The Clinical Outcome Study for dysferlinopathy
Identifieur interne : 002645 ( Pmc/Curation ); précédent : 002644; suivant : 002646The Clinical Outcome Study for dysferlinopathy
Auteurs : Elizabeth Harris ; Catherine L. Bladen ; Anna Mayhew ; Meredith James ; Karen Bettinson ; Ursula Moore ; Fiona E. Smith ; Laura Rufibach ; Avital Cnaan ; Diana X. Bharucha-Goebel ; Andrew M. Blamire ; Elena Bravver ; Pierre G. Carlier ; John W. Day ; Jordi Díaz-Manera ; Michelle Eagle ; Ulrike Grieben ; Matthew Harms ; Kristi J. Jones ; Hanns Lochmüller ; Jerry R. Mendell ; Madoka Mori-Yoshimura ; Carmen Paradas ; Elena Pegoraro ; Alan Pestronk ; Emmanuelle Salort-Campana ; Olivia Schreiber-Katz ; Claudio Semplicini ; Simone Spuler ; Tanya Stojkovic ; Volker Straub ; Shin'Ich Takeda ; Carolina Tesi Rocha ; M. C. Walter ; Kate BushbySource :
- Neurology: Genetics [ 2376-7839 ] ; 2016.
Abstract
To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.
The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.
There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies.
These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.
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DOI: 10.1212/NXG.0000000000000089
PubMed: 27602406
PubMed Central: 4994875
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Bladen</name></author><author><name sortKey="Mayhew, Anna" sort="Mayhew, Anna" uniqKey="Mayhew A" first="Anna" last="Mayhew">Anna Mayhew</name></author><author><name sortKey="James, Meredith" sort="James, Meredith" uniqKey="James M" first="Meredith" last="James">Meredith James</name></author><author><name sortKey="Bettinson, Karen" sort="Bettinson, Karen" uniqKey="Bettinson K" first="Karen" last="Bettinson">Karen Bettinson</name></author><author><name sortKey="Moore, Ursula" sort="Moore, Ursula" uniqKey="Moore U" first="Ursula" last="Moore">Ursula Moore</name></author><author><name sortKey="Smith, Fiona E" sort="Smith, Fiona E" uniqKey="Smith F" first="Fiona E." last="Smith">Fiona E. 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Carlier</name></author><author><name sortKey="Day, John W" sort="Day, John W" uniqKey="Day J" first="John W." last="Day">John W. Day</name></author><author><name sortKey="Diaz Manera, Jordi" sort="Diaz Manera, Jordi" uniqKey="Diaz Manera J" first="Jordi" last="Díaz-Manera">Jordi Díaz-Manera</name></author><author><name sortKey="Eagle, Michelle" sort="Eagle, Michelle" uniqKey="Eagle M" first="Michelle" last="Eagle">Michelle Eagle</name></author><author><name sortKey="Grieben, Ulrike" sort="Grieben, Ulrike" uniqKey="Grieben U" first="Ulrike" last="Grieben">Ulrike Grieben</name></author><author><name sortKey="Harms, Matthew" sort="Harms, Matthew" uniqKey="Harms M" first="Matthew" last="Harms">Matthew Harms</name></author><author><name sortKey="Jones, Kristi J" sort="Jones, Kristi J" uniqKey="Jones K" first="Kristi J." last="Jones">Kristi J. 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Mendell</name></author><author><name sortKey="Mori Yoshimura, Madoka" sort="Mori Yoshimura, Madoka" uniqKey="Mori Yoshimura M" first="Madoka" last="Mori-Yoshimura">Madoka Mori-Yoshimura</name></author><author><name sortKey="Paradas, Carmen" sort="Paradas, Carmen" uniqKey="Paradas C" first="Carmen" last="Paradas">Carmen Paradas</name></author><author><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name></author><author><name sortKey="Pestronk, Alan" sort="Pestronk, Alan" uniqKey="Pestronk A" first="Alan" last="Pestronk">Alan Pestronk</name></author><author><name sortKey="Salort Campana, Emmanuelle" sort="Salort Campana, Emmanuelle" uniqKey="Salort Campana E" first="Emmanuelle" last="Salort-Campana">Emmanuelle Salort-Campana</name></author><author><name sortKey="Schreiber Katz, Olivia" sort="Schreiber Katz, Olivia" uniqKey="Schreiber Katz O" first="Olivia" last="Schreiber-Katz">Olivia Schreiber-Katz</name></author><author><name sortKey="Semplicini, Claudio" sort="Semplicini, Claudio" uniqKey="Semplicini C" first="Claudio" last="Semplicini">Claudio Semplicini</name></author><author><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name></author><author><name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name></author><author><name sortKey="Takeda, Shin Ich" sort="Takeda, Shin Ich" uniqKey="Takeda S" first="Shin'Ich" last="Takeda">Shin'Ich Takeda</name></author><author><name sortKey="Rocha, Carolina Tesi" sort="Rocha, Carolina Tesi" uniqKey="Rocha C" first="Carolina Tesi" last="Rocha">Carolina Tesi Rocha</name></author><author><name sortKey="Walter, M C" sort="Walter, M C" uniqKey="Walter M" first="M. C." last="Walter">M. C. Walter</name></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27602406</idno><idno type="pmc">4994875</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994875</idno><idno type="RBID">PMC:4994875</idno><idno type="doi">10.1212/NXG.0000000000000089</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002795</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002795</idno><idno type="wicri:Area/Pmc/Curation">002645</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002645</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Clinical Outcome Study for dysferlinopathy</title><author><name sortKey="Harris, Elizabeth" sort="Harris, Elizabeth" uniqKey="Harris E" first="Elizabeth" last="Harris">Elizabeth Harris</name></author><author><name sortKey="Bladen, Catherine L" sort="Bladen, Catherine L" uniqKey="Bladen C" first="Catherine L." last="Bladen">Catherine L. Bladen</name></author><author><name sortKey="Mayhew, Anna" sort="Mayhew, Anna" uniqKey="Mayhew A" first="Anna" last="Mayhew">Anna Mayhew</name></author><author><name sortKey="James, Meredith" sort="James, Meredith" uniqKey="James M" first="Meredith" last="James">Meredith James</name></author><author><name sortKey="Bettinson, Karen" sort="Bettinson, Karen" uniqKey="Bettinson K" first="Karen" last="Bettinson">Karen Bettinson</name></author><author><name sortKey="Moore, Ursula" sort="Moore, Ursula" uniqKey="Moore U" first="Ursula" last="Moore">Ursula Moore</name></author><author><name sortKey="Smith, Fiona E" sort="Smith, Fiona E" uniqKey="Smith F" first="Fiona E." last="Smith">Fiona E. Smith</name></author><author><name sortKey="Rufibach, Laura" sort="Rufibach, Laura" uniqKey="Rufibach L" first="Laura" last="Rufibach">Laura Rufibach</name></author><author><name sortKey="Cnaan, Avital" sort="Cnaan, Avital" uniqKey="Cnaan A" first="Avital" last="Cnaan">Avital Cnaan</name></author><author><name sortKey="Bharucha Goebel, Diana X" sort="Bharucha Goebel, Diana X" uniqKey="Bharucha Goebel D" first="Diana X." last="Bharucha-Goebel">Diana X. Bharucha-Goebel</name></author><author><name sortKey="Blamire, Andrew M" sort="Blamire, Andrew M" uniqKey="Blamire A" first="Andrew M." last="Blamire">Andrew M. Blamire</name></author><author><name sortKey="Bravver, Elena" sort="Bravver, Elena" uniqKey="Bravver E" first="Elena" last="Bravver">Elena Bravver</name></author><author><name sortKey="Carlier, Pierre G" sort="Carlier, Pierre G" uniqKey="Carlier P" first="Pierre G." last="Carlier">Pierre G. Carlier</name></author><author><name sortKey="Day, John W" sort="Day, John W" uniqKey="Day J" first="John W." last="Day">John W. Day</name></author><author><name sortKey="Diaz Manera, Jordi" sort="Diaz Manera, Jordi" uniqKey="Diaz Manera J" first="Jordi" last="Díaz-Manera">Jordi Díaz-Manera</name></author><author><name sortKey="Eagle, Michelle" sort="Eagle, Michelle" uniqKey="Eagle M" first="Michelle" last="Eagle">Michelle Eagle</name></author><author><name sortKey="Grieben, Ulrike" sort="Grieben, Ulrike" uniqKey="Grieben U" first="Ulrike" last="Grieben">Ulrike Grieben</name></author><author><name sortKey="Harms, Matthew" sort="Harms, Matthew" uniqKey="Harms M" first="Matthew" last="Harms">Matthew Harms</name></author><author><name sortKey="Jones, Kristi J" sort="Jones, Kristi J" uniqKey="Jones K" first="Kristi J." last="Jones">Kristi J. Jones</name></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name></author><author><name sortKey="Mendell, Jerry R" sort="Mendell, Jerry R" uniqKey="Mendell J" first="Jerry R." last="Mendell">Jerry R. Mendell</name></author><author><name sortKey="Mori Yoshimura, Madoka" sort="Mori Yoshimura, Madoka" uniqKey="Mori Yoshimura M" first="Madoka" last="Mori-Yoshimura">Madoka Mori-Yoshimura</name></author><author><name sortKey="Paradas, Carmen" sort="Paradas, Carmen" uniqKey="Paradas C" first="Carmen" last="Paradas">Carmen Paradas</name></author><author><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name></author><author><name sortKey="Pestronk, Alan" sort="Pestronk, Alan" uniqKey="Pestronk A" first="Alan" last="Pestronk">Alan Pestronk</name></author><author><name sortKey="Salort Campana, Emmanuelle" sort="Salort Campana, Emmanuelle" uniqKey="Salort Campana E" first="Emmanuelle" last="Salort-Campana">Emmanuelle Salort-Campana</name></author><author><name sortKey="Schreiber Katz, Olivia" sort="Schreiber Katz, Olivia" uniqKey="Schreiber Katz O" first="Olivia" last="Schreiber-Katz">Olivia Schreiber-Katz</name></author><author><name sortKey="Semplicini, Claudio" sort="Semplicini, Claudio" uniqKey="Semplicini C" first="Claudio" last="Semplicini">Claudio Semplicini</name></author><author><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name></author><author><name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name></author><author><name sortKey="Takeda, Shin Ich" sort="Takeda, Shin Ich" uniqKey="Takeda S" first="Shin'Ich" last="Takeda">Shin'Ich Takeda</name></author><author><name sortKey="Rocha, Carolina Tesi" sort="Rocha, Carolina Tesi" uniqKey="Rocha C" first="Carolina Tesi" last="Rocha">Carolina Tesi Rocha</name></author><author><name sortKey="Walter, M C" sort="Walter, M C" uniqKey="Walter M" first="M. C." last="Walter">M. C. Walter</name></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name></author></analytic><series><title level="j">Neurology: Genetics</title><idno type="eISSN">2376-7839</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.</p></sec><sec><title>Methods:</title><p>The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.</p></sec><sec><title>Results:</title><p>There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies.</p></sec><sec><title>Conclusions:</title><p>These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Bushby, K" uniqKey="Bushby K">K Bushby</name></author><author><name sortKey="Straub, V" uniqKey="Straub V">V Straub</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nguyen, K" uniqKey="Nguyen K">K Nguyen</name></author><author><name sortKey="Bassez, G" uniqKey="Bassez G">G Bassez</name></author><author><name sortKey="Bernard, R" uniqKey="Bernard R">R Bernard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Miyoshi, K" uniqKey="Miyoshi K">K Miyoshi</name></author><author><name sortKey="Kawai, H" uniqKey="Kawai H">H Kawai</name></author><author><name sortKey="Iwasa, M" uniqKey="Iwasa M">M Iwasa</name></author><author><name sortKey="Kusaka, K" 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Cacciottolo</name></author><author><name sortKey="Numitone, G" uniqKey="Numitone G">G Numitone</name></author><author><name sortKey="Aurino, S" uniqKey="Aurino S">S Aurino</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Weiler, T" uniqKey="Weiler T">T Weiler</name></author><author><name sortKey="Bashir, R" uniqKey="Bashir R">R Bashir</name></author><author><name sortKey="Anderson, Lv" uniqKey="Anderson L">LV Anderson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Illarioshkin, Sn" uniqKey="Illarioshkin S">SN Illarioshkin</name></author><author><name sortKey="Ivanova Smolenskaya, Ia" uniqKey="Ivanova Smolenskaya I">IA Ivanova-Smolenskaya</name></author><author><name sortKey="Greenberg, Cr" uniqKey="Greenberg C">CR Greenberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nishikawa, A" uniqKey="Nishikawa A">A Nishikawa</name></author><author><name sortKey="Mori Yoshimura, M" uniqKey="Mori Yoshimura M">M Mori-Yoshimura</name></author><author><name sortKey="Segawa, K" uniqKey="Segawa K">K Segawa</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Takahashi, T" uniqKey="Takahashi T">T Takahashi</name></author><author><name sortKey="Aoki, M" uniqKey="Aoki M">M Aoki</name></author><author><name sortKey="Suzuki, N" uniqKey="Suzuki N">N Suzuki</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Choi, Er" uniqKey="Choi E">ER Choi</name></author><author><name sortKey="Park, Sj" uniqKey="Park S">SJ Park</name></author><author><name sortKey="Choe, Yh" uniqKey="Choe Y">YH Choe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wenzel, K" uniqKey="Wenzel K">K Wenzel</name></author><author><name sortKey="Geier, C" uniqKey="Geier C">C Geier</name></author><author><name sortKey="Qadri, F" uniqKey="Qadri F">F Qadri</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Braat, E" uniqKey="Braat E">E Braat</name></author><author><name sortKey="Hoste, L" uniqKey="Hoste L">L Hoste</name></author><author><name sortKey="De Waele, L" uniqKey="De Waele L">L De Waele</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Neurol Genet</journal-id><journal-id journal-id-type="iso-abbrev">Neurol Genet</journal-id><journal-id journal-id-type="hwp">nng</journal-id><journal-id journal-id-type="publisher-id">NNG</journal-id><journal-title-group><journal-title>Neurology: Genetics</journal-title></journal-title-group><issn pub-type="epub">2376-7839</issn><publisher><publisher-name>Wolters Kluwer</publisher-name><publisher-loc>Baltimore</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27602406</article-id><article-id pub-id-type="pmc">4994875</article-id><article-id pub-id-type="publisher-id">NG2016002162</article-id><article-id pub-id-type="doi">10.1212/NXG.0000000000000089</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>58</subject><subject>95</subject><subject>176</subject></subj-group><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The Clinical Outcome Study for dysferlinopathy</article-title><subtitle>An international multicenter study</subtitle></title-group><contrib-group><contrib contrib-type="author"><name><surname>Harris</surname><given-names>Elizabeth</given-names></name><degrees>MBBS</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bladen</surname><given-names>Catherine L.</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Mayhew</surname><given-names>Anna</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Biomarin Advisory Board - one off meeting</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1. BioMarin 2. Pfizer Inca 3. Sarepta Therapeutics 4. PTC Therapeutics 5. Summit Therapeutics plc 6. Eli Lilly 7. Amicus</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical procedures or imaging studies:</title><list-item><p>1. John Walton MD Centre, Clinical Evaluator for Dysferlinopathy Outcome Study, 5%</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>James</surname><given-names>Meredith</given-names></name><degrees>PT</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1. BioMarin 2. Pfizer Inc 3. Sarepta Therapeutics 4. PTC Therapeutics 5. Summit Therapeutics plc 6. Eli Lilly 7. FibroGen 8. Amicus Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bettinson</surname><given-names>Karen</given-names></name><degrees>MSc</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Ursula</given-names></name><degrees>MBBChir</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Fiona E.</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Rufibach</surname><given-names>Laura</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1. Neuromuscular Disease Foundation (NDF)</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>(1) Neuromuscular Disease Foundation - payment for travel to the HIBM patient and board meeting</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Jain Foundation - I am a direct employee (VP of Clinical Strategies) of the Jain Foundation who is the funder of the study attributed in the manuscript</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Cnaan</surname><given-names>Avital</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1. Member, External Adviosry Committee (EAC), NIH/NIDDK, Chronic Kidney Disease in Children, 2. Member, Pediatric Advisory Committee, FDA (end date 6/30/2017).</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>1. Department of Defense/USAMRAMC,W81XWH-04-1-0851, Dir Coord Ctr, 2008-2016 2. NIH/NINDS -NS045911, Statistician,2008- 2016 3. Dept of Defense/USAMRAA W81XWH-09-1-0592, Principal Investigator,2009 ? 2016 4. Dept of Education,H133B090001, Dir, Coord Ctr, 2009- 2016 5. NIH/NCATS-UL1RR031988 /UL1TR000075, Director of DEB Component, 2010-2015 6. NIH/NIAMS- AR061875, Dir. Coord Ctr 2011-2016 7. NIH/NIAMS - AR0623805, Dr. Coord Ctr 2011-2016 8. NIH/NICHD - HD040677, Core Assoc Dir, 2011-2016 9. NIH/NICHD - HD058567, Dir Coord Ctr, 2012-2017 10. Dept of Defense/USAMRAA, W81XWH-12-1-0417, 2012-2016, Principal Investigator 11. PCORI, 0057, 2013-2015. 12. Dept of Defense/USAMRAA, W81XWH-15-1-0508, 2015-2018, Dir of Coord Ctr.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>1. Jain Foundation 2. Foundation to Eradicate Duchenne</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bharucha-Goebel</surname><given-names>Diana X.</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>T32 AR 56993-4 (2013-2016)</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Blamire</surname><given-names>Andrew M.</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) European Commission, 602485, PI, 2013-2017 (2) EPSRC, EP/L012189/1, PI, 2014-2017 (3) European Commission, 667078, co-I, 2016-2019</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) UK Academy of Medical Sciences, 2012-2014 (2) Arthritis Research UK, 2012-2015 (3) Alzheimer's Society UK, 2014-2016</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bravver</surname><given-names>Elena</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Carlier</surname><given-names>Pierre G.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1_ non profit_ Chairman of the EU FP7 BIOIMAGE project.</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>Journal of Neuromuscular Diseases, editorial advisory board member since 2014</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>Commercial, ProSensa, Leiden, The Netherlands</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>EU FP7 SCOPE NMD - work package leader - 2013-2015 EU FP7 BIOMIMAGE - work package leader - 2013-2016 EU FP7 SKIP NMD - participant - 2012-2015 France Life Imaging, 2013, grant for equipement</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Day</surname><given-names>John W.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1 - Combined commercial and non-profit, 2012-2016; FOR-DMD evaluation of steroid dosing in Duchenne muscular dystrophy, Funded by NIH, PPMD, Marathon Pharmaceuticals; role: DSMB- chair.</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>1) Non-profit for myotonic dystrophy cognitive function in adolescents; from family benefactor 2) Non-profit for myotonic dystrophy genotype-phenotype correlations; from family benefactor</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>1) Cytokinetics, Inc. travel to NY, advisory meeting (2015) 2) Biogen, Inc. travel to Boston, advisory meeting (2015, 2016) 3) Roche, Inc. travel to Istanbul, investigators? meeting (2015) 4) Isis Pharamceuticals, travel to San Diego and Miami, investigators? meetings (2015) 5) Spinal Muscular Atrophy Foundation, travel to NY for annual conference (2015) 6) Parent's Project Muscular Dystrophy, travel to Washington, DC for advisory committee (2015) 7) Myotonic Dystrophy Foundation, travel to Washington, DC for advisory committee (2014, 2015, 2016) 8) American Association of Pediatrics, travel to conference and presentation honorarium (2014) 9) Myotonic Dystrophy Foundation, travel to Miami, FL (2016) 10) Biogen, SMA Advisory committee, travel to Rome, Italy (2015) 11) PPMD, DMD Scientific Advisory Committee, Tampa, FL (2016) 12) Carrel-Krusen Organization, Honoraria and Travel, Dallas, TX (2016)</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) Patent on Myotonic Dystrophy type 2 genetic testing, licensed to Athena Diagnostics (2) Patent on Spinocerebellar Ataxia type 5 genetic testing, licensed to Athena Diagnostics</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>Stanford University, Departments of Neurology and Neuroscience, Pediatrics</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1) Isis Pharmaceuticals ? Myotonic Dystrophy Advisor 2) Biogen, Inc. ? SMA Advisory Board 3) Cytokinetics, Inc. ? SMA Advisor 4) Sarepta Therapeutics ? Duchenne Advisor 5) PTC Therapeutics - Duchenne Advisor</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Genzyme Corporation, Site PI, 2008-2014 (2) Isis Pharmaceuticals ? SMA and myotonic dystrophy research, Site PI, 2013-2015 (3) Sarepta Pharmaceuticals? Duchenne muscular dystrophy research, Site PI, 2015 (4) Cytokinetics, Inc - SMA research, Overall PI, 2016 (5) Genzyme, Inc - Pompe research, Site PI, 2016 (6) BioMarin Pharma - Pompe research, Site PI, 2016</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(3) NIH/NINDS, NS058901, Project PI, 2008-2015</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Muscular Dystrophy Association, PI, 2011-2015 (2) Myotonic Dystrophy Foundation, PI, 2014-2015 (3) Spinal Muscular Atrophy Foundation, PI, 2015</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>(1) DM2 genetic testing, Athena Diagnostics, 2002-2015 (2) SCA5 genetic testing, Athena Diagnostics, 2007-2015</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Díaz-Manera</surname><given-names>Jordi</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>Genzyme, speaker honoraria and travel grant</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Eagle</surname><given-names>Michelle</given-names></name><degrees>PT, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) PTC advisory board (2) Biomarin advisory board (3) Catabasis advisory board</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>PTC Therapeutics Master Class in DMD</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>ATOM International Ltd Managing Director One year</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>Consultancy agreements with: (1) Pfizer (2) PTC (3) Acceleron (4) BMS (5) Biomarin (6) Fibrogen (7) Capricor (8) Catabasis</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Grieben</surname><given-names>Ulrike</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Harms</surname><given-names>Matthew</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>Biogen Idec Merck Pharmaceuticals Ultragenyx Pharmaceuticals</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NIH/NINDS PI 2009-2016</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Columbia University</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Hope Center for Neurological Disorders ALS Association</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Kristi J.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>BioMarin Drisapersen Scientific Advisory Board London, 2015 Biogen SMA Australian Scientific Advisory Board Sydney, 2015</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Lochmüller</surname><given-names>Hanns</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) German Duchenne parents project (2)IRDiRC Interdisciplinary Scientific Committee (3)German Muscular Dystrophy Network (4) Myotubular Trust Patient Registry (5) Action Duchenne Patient Registry (6) German Patient Registries on DMD and SMA</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>(1)PTC Therapeutics Inc, honorarium for lecture at satellite symposium ICNMD Nice 2014 and travel paid to Newcastle University (2)Ultragenyx Pharmaceutical Inc., travel</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>(1) Journal of Neuromuscular Diseases, Editor in Chief, 2014-current (2)Journal of Neurology, Editorial Board Member, 2007-current</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1)Roche Pharmaceuticals (paid to Newcastle University) (2)ASD Therapeutics Partners LLC (paid to Newcastle University) (3)IOS Press (paid to Newcastle University) (4)Alexion Pharmaceuticals Inc.(paid to Newcastle University) (5)Ultragenyx Pharmaceutical Inc.(paid to Newcastle University) (6) Fondazione Cariplo (paid to Newcastle University)</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Marigold Foundation Ltd (2)Ultragenyx Pharmaceutical Inc (3)PTC Therapeutics Inc (4)Eli Lilly and co (5)Action Benni & Co e.v (6)GSK (GlaxoSmithKline) (7)Trophos SA</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1)European Commission (RD-Connect), 305444, Coordinator, 2012-2018 (2) European Commission (OPTIMISTIC), 305697, co-investigator, 2012-2016 (3)European Commission (NeurOmics), 305121, co-investigator, 2012-2017 (4)Medical Research Council (MRC) G1002274, 98482, co-investigator, 2015-2016 (5)Medical Research Council (MRC), co-investigator, 2013-2018 (6)National Institute for Health Research (NIHR)PD00402, 2015-2017</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1)Action Duchenne, (2) Association Francaise Contre les Myopathies (3)British Heart Foundation (4)Muscular Dytrophy UK (5)National Cancer Institute (6) Spinal Muscular Atrophy Support UK (7)Wellcome Trust (8)Jennifer Trust (9)Duchenne Parent Project</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Mendell</surname><given-names>Jerry R.</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1) Consultant to AveXis Therapeutics 2) Consultant to Serapta Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1) Consultant to AveXis Therapeutics 2) Consultant to Serapta Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>1) Support for clinical trial sponsored by AveXis Therapeutics 2)Support for clinical trial sponsored bySerapta Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Nationwide Children's Hosptial Foundation</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>MDA Clinical Research Network (MDA259206) Jesse's Journey</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Mori-Yoshimura</surname><given-names>Madoka</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Paradas</surname><given-names>Carmen</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) Computerized image analysis method for the diagnosis of neuromuscular diseases</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) Andalusia Government (Consejeria de Salud,Spain),DP- 0039-2011, as a support for a fellowship during 1 year</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Pegoraro</surname><given-names>Elena</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>PTC Pharmaceuticals, commercial entity</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>Received funding for travel and educational support from Genzyme</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Received institutional support from the University of Padova for genetic research (1998-present)</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Funded by Italian Telethon (2008-present) e by Italian Ministry of Health</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Pestronk</surname><given-names>Alan</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Myositis Association, scientific advisory board</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>Myositis Association: Travel reimbursement for visiting talks at University medical center Grand Rounds</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) TS-HDS antibody 7,175,989, issued 2007; (2) GALOP antibody 6,121,004, issued 2000; (3) GM1 ganglioside antibody 6,077,681, issued 2000; (4) Sulfatide antibody 6,020,140, issued 1995</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>Athena, speaker honoraria 2007-2009 The Myositis Association 2014-2016</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Genzyme, (2) Insmed, (3) Knopp, (4) Ultragenyx, (5) Ionis, (6) Sanofi, (7) Cytokinetics, (8) GSK, (9) Biogen, (10) CSL Behring (11) Biomarin</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NIH</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Washington University Neuromuscular Research Fund</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) CINRG Children's Hospital Washington DC, Investigator 2007-2009; (2) Muscular Dystrophy Association, Investigator 2007-2009</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>Johnson & Johnson, hold stock</p></list-item></list></p><p><list list-type="order"><title>License fee payments, Technology or Inventions:</title><list-item><p>Antibody testing, Athena</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>(1) GALOP antibody 6,121,004, issued 2000; (2) GM1 ganglioside antibody 6,077,681, issued 2000; (3) Sulfatide antibody 6,020,140; issued 1995</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Salort-Campana</surname><given-names>Emmanuelle</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Schreiber-Katz</surname><given-names>Olivia</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>Deutsche Gesellschaft f?r Muskelkranke (DGM e.V), funding to speak at conference; Novartis, funding of travel expenses (study PI meeting)</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Semplicini</surname><given-names>Claudio</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Spuler</surname><given-names>Simone</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>German Research Foundation (DFG, KFO192, SP1152/8-1)</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Jain Foundation</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Stojkovic</surname><given-names>Tanya</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>I received honororia from the laboratory</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Straub</surname><given-names>Volker</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1)Pfizer, advisory board, for past 2 years (2)Italfarmaco S.p.A., advisory board, for past year (3)Audentes Therapeutics, advisory board, for past 2 years (4)Bristol-Myer Squibb, advisory board, for past year (5)Summit Therapeutics, advisory board, for past year (6)Tivorsan, advisory board, for past year (7)Gene therapy trial at Nationwide Children's Hospital, Ohio, US; Data Safety Monitoring Board</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>(1) Sanofi Genzyme, travel expenses and/or honoraria for lectures or educational activities related to Pompe disease and next generation sequencing.</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>(1) Neuromuscular Disorders, editorial board member, 6 years (2) Journal of Neuromuscular Diseases, editorial board, second year (3) PLOS Currents Muscular Dystrophy, Board of Reviewers, 3 year</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1) Sanofi Genzyme</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1)Sanofi Genzyme, clinical trial funding as UK chief investigator (2)BioMarin, clinic trial funding as UK chief investigator (3)Ionis Pharmceuticals, clinic trial funding as a principal investigator (4) Sarepta Therapeutics, clinical trial funding as a principal investigator (5) I have a research collaboration on a sequencing project funded by Ultragenyx and Sanofi Genzyme.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) Funding from the European Commission (2) Funding from the UK Medical Research Council</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>(1) funding from Newcastle University</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) funding from the Parent Project Muscular Dystrophy (2) funding from Association Francaise Contre les Myopathies (3) funding from the LGMD2I Research Fund (4) funding from the Wellcome Trust (5) funding from the Sylvia Aitken Charitable Trust (6) funding from Muscular Dystrophy UK (7) funding from Action Medical Research</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Takeda</surname><given-names>Shin'ich</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) Myology Institute in Paris (2) National Center for Child Health and Development, Japan</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>(1) Japanese Society of Neurology, speaker honoraria (2) Pharmaceutical and Medical Device Regulatory Science Society of Japan, speaker honoraria (3) International Collaboration Forum of Human Gene Therapy for Genetic Disease, speaker honoraria (4) Japan Health Sciences Foundation, speaker honoraria (5) Jichi Medical University, speaker honoraria (6) MSD K.K., speaker honoraria (7) The Japan Society of Human Genetics, speaker honoraria (8) Chugai Pharmaceutical Co. Ltd., speaker honoraria (9) Eisai Co. Ltd, speaker honoraria</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>(1) J. Neuromuscular Diseases, Associate editor for reviews, 2013- (2) Am. J. Pathology, Associate editor, 2014- (3) Neuromuscular Disorders, Editorial board member, 2015-</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) Antisense nucleic acid, sequence for exon 53 skip (2) Antisense nucleic acid, sequence for exon 44 skip (3) Antisense nucleic acid, sequence for exon 51 skip (4) Antisense nucleic acid, sequence for block skip</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>(1) Translational Research in Muscular Dystrophy, Springer, 2016</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1) Ono Pharmaceutical Co. Ltd. (2) Chugai Pharmaceutical Co. Ltd. (3) Taiho Pharma (4) Daiichisankyo Co. Ltd. (5) Takeda Pharmaceutical Co. Ltd.</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Taiho Pharma (2) GlaxoSmithKline K.K. (3) Nippon Shinyaku Co. Ltd. (4) TAKARA BIO INC. (5) JCR Pharmaceuticals Co., Ltd.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) Japan Agency for Medical Research and development (AMED), Practical Research Project for Rare /Intractable Diseases, #16ek0109154h0002, Principal Investigator, 2015-2018. (2) AMED, Practical Research Project for Rare/Intractable Diseases, #16ek0109169h0003, Principal Investigator, 2014-2017. (3) AMED, Promoting Clinical Trails for Development of New Drugs and Medical Devices, #16lk0201006h0005, Principal Investigator, 2012- 2017. (4) AMED, Research Center Network for Realization of Regenerative Medicine, Project for Technological Development, #16bm0404001h0004, Principal Investigator, 2013-2019. (5) AMED, Research Center Network for Realization of Regenerative Medicine, The Program for Intractable Diseases research utilizing Disease-specific iPS cells, 16bm0609005h0005, Site Investigator, 2013- 2018 (6) Ministry of Education, Sports, Science and Technology (MEXT), Grants-in-AId for Scientific Research (B), Principal Investigator, 2013- 2016.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>(1) National Center of Neurology and Psychiatry (NCNP), Intramural Research Grant, #28-06, Principal Investigator, 2016-2019. (2) NCNP, Intramural Research Grant, #25-05, Principal Investigator, 2013-2016. (3) National Cerebral and Cardiovascular Center (4) National Center for Child Health and Development</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Rocha</surname><given-names>Carolina Tesi</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Advisory Board Sarepta and Marathon.</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1)Advance Medical</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Walter</surname><given-names>M.C.</given-names></name><degrees>MD, MA</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) Novartis Pharma GmbH EU Local Advisory Board Meeting on April 15, 2013 on the topic of Sporadic Inclusion Body Myositis (sIBM), (2) Steering Committee for a Prospective Observational Study in Sporadic Inclusion Body Myositis (sIBM), RTI HS, July 2014, (3) Ataluren (Translarna?) Advisory Board Meeting, PTC Therapeutics, November 2014, (4) National Advisory Board Olesoxime ? SMA, Roche Pharma AG, December 2015, (5) Advisory Board Meeting sIBM, Novartis Pharma GmbH, February 2016, (6) Advisory Board Meeting Clinical Research in DMD, Gr?nenthal Pharma AG, February 2016 (7) SMA Advisory Board Meeting AveXIS, April 2016</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>(1) EMG Seminar, Vienna, Krankenhaus Hietzing mit NZ-Rosenhuegel, travel and speaker honoraria, April 2014 (2) BYM338B2203 EU Investigator Meeting, Novartis Pharma GmbH, travel and accommodation, February 2013 (3) Talk ?Update Muskeldystrophien?, Biogen Pharma GmbH, speaker honoraria, October 2013 (4) Talk ?Update sIBM?, Novartis Pharma GmbH, speaker honoraria</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>Consultancies from (1) Guidepoint Global, (2) GLG Consult and (3) Olson Research on the topic of muscular dystrophies, spinal muscular atrophy, myasthenia, LEMS and from (4) Novartis on the topic of IBM</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Glaxo Smith Kline GmbH, DMD BOI (2) Trophos AG (now Roche Pharma AG), SMA-TRO19622CLEQ1275-1 (3) Grifols GmbH, Gamedis Study (4) Novartis Pharma GmbH, IBM registry</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>Federal Ministry of Education and Research, Bonn, Germany, MD-NET 01GM0601, 2009-2013, and CMT-NET 01GM1511B, 2016-2019</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Jain Foundation, Dysferlinopathy Natural History Study, ongoing (2) Deutsche Gesellschaft f?r Muskelkranke, MFM patient registry, 04-2014 (2) Association contre les Myopathies (AFM) DdT2 2010 Funding Rech Translat ARD/SS/2010/2077/Following number 15037/CA 15/07/10 DRD10/PHYLO/DEPRE/MNCMT/ALLEM, CMT registry (3) Friedrich-Baur-GmbH, Burgkunstadt, ?Oberfrankenprojekte?, 12/11 - 12/16</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Bushby</surname><given-names>Kate</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Acceleron, AVI Biopharma, GSK, Genzyme, Prosensa, PTC, Santhera, ELIXER, BioMarin Pharmaceuticals (all moneys payable to Newcastle University).</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>Neuromuscular Disorders Member of Editorial Board to 2011.</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>Disorders of Voluntary Muscle 2010, Cambridge University Press. Ed Karpati, Hilton Jones, Bushby and Griggs</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>Newcastle University, Action Research Professor of Neuromuscular Genetics</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>See above (SABs) also Debiopharm, Lilly Pharmaceuticals, Summit Corporation, Insight Research Group, Galapagos SASU, Shire Human Genetics Therapies Inc., Amsterdam Molecular Therapeutics, European Neuromuscular Centre, Bristol-Meyers Squibb Company, Solid Ventures LLC</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>Trial support from PTC, AVI and Pfizer Global Research and Development</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>Grant support from Medical Research Council UK, The European Union, NIH, NHS England, US Department of Defence</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Muscular Dystrophy Campaign, Association Francaise contre les myopathies, INC Research, Duchenne Children's Trust, British Heart Foundation, Duchenne Parent Support, Wellcome Trust, Muscular Dystrophy Group of GB, Parent Project Muscular Dystrophy</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><collab>For the Jain COS Consortium</collab></contrib><aff>From The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital, Aix-Marseille Université, France; Department of Neurology (O.S.-K., M.C.W.), Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany; and Institut de Myologie (T.S.), AP-HP, G.H. Pitié-Salpêtrière, Boulevard de l'Hôpital, Paris, France.</aff></contrib-group><author-notes><corresp id="cor1">Correspondence to Dr. Bushby: <email>kate.bushby@newcastle.ac.uk</email></corresp><fn fn-type="financial-disclosure"><p>Funding information and disclosures are provided at the end of the article. Go to <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000089">Neurology.org/ng</ext-link> for full disclosure forms. The Article Processing Charge was paid by the University of Newcastle.</p></fn><fn fn-type="other"><p>Coinvestigators are listed at <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000089">Neurology.org/ng</ext-link>.</p></fn></author-notes><pub-date pub-type="epub"><day>04</day><month>8</month><year>2016</year></pub-date><pub-date pub-type="collection"><month>8</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>8</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>2</volume><issue>4</issue><elocation-id>e89</elocation-id><history><date date-type="received"><day>18</day><month>3</month><year>2016</year></date><date date-type="accepted"><day>16</day><month>6</month><year>2016</year></date></history><permissions><copyright-statement>© 2016 American Academy of Neurology</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>American Academy of Neurology</copyright-holder><license license-type="open-access"><license-p>This is an open access article distributed under the terms of the <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">Creative Commons Attribution License 4.0 (CC BY)</ext-link>, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xlink:title="pdf" xlink:href="NG2016002162.pdf"></self-uri><abstract><sec><title>Objective:</title><p>To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.</p></sec><sec><title>Methods:</title><p>The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.</p></sec><sec><title>Results:</title><p>There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies.</p></sec><sec><title>Conclusions:</title><p>These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.</p></sec></abstract><funding-group><award-group><funding-source>Medical Research council</funding-source><award-id>Grant number MR/K000608/1</award-id></award-group><award-group><funding-source>NIH/National Institute of Neurological Disorders and Stroke</funding-source></award-group><award-group><funding-source>European Commission</funding-source></award-group><award-group><funding-source>Medical Research Council</funding-source></award-group><award-group><funding-source>Wellcome Trust</funding-source></award-group></funding-group><custom-meta-group><custom-meta><meta-name>OPEN-ACCESS</meta-name><meta-value>TRUE</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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