Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Identifieur interne : 001876 ( Ncbi/Curation ); précédent : 001875; suivant : 001877Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Auteurs : Philippa B. Mills [Royaume-Uni] ; Stephane S. M. Camuzeaux [Royaume-Uni] ; Emma J. Footitt [Royaume-Uni] ; Kevin A. Mills [Royaume-Uni] ; Paul Gissen [Royaume-Uni] ; Laura Fisher [Royaume-Uni] ; Krishna B. Das [Royaume-Uni] ; Sophia M. Varadkar [Royaume-Uni] ; Sameer Zuberi [Royaume-Uni] ; Robert Mcwilliam [Royaume-Uni] ; Tommy Stödberg [Suède] ; Barbara Plecko [Suisse] ; Matthias R. Baumgartner [Suisse] ; Oliver Maier [Suisse] ; Sophie Calvert [Australie] ; Kate Riney [Australie] ; Nicole I. Wolf [Pays-Bas] ; John H. Livingston [Royaume-Uni] ; Pronab Bala [Royaume-Uni] ; Chantal F. Morel [Canada] ; François Feillet [France] ; Francesco Raimondi [Italie] ; Ennio Del Giudice [Italie] ; W. Kling Chong [Royaume-Uni] ; Matthew Pitt [Royaume-Uni] ; Peter T. Clayton [Royaume-Uni]Source :
- Brain [ 0006-8950 ] ; 2014.
Abstract
Mutations in
Url:
DOI: 10.1093/brain/awu051
PubMed: 24645144
PubMed Central: 3999720
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PMC:3999720Le document en format XML
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</affiliation>
</author>
<author><name sortKey="Fisher, Laura" sort="Fisher, Laura" uniqKey="Fisher L" first="Laura" last="Fisher">Laura Fisher</name>
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</affiliation>
</author>
<author><name sortKey="Das, Krishna B" sort="Das, Krishna B" uniqKey="Das K" first="Krishna B." last="Das">Krishna B. Das</name>
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</affiliation>
</author>
<author><name sortKey="Varadkar, Sophia M" sort="Varadkar, Sophia M" uniqKey="Varadkar S" first="Sophia M." last="Varadkar">Sophia M. Varadkar</name>
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</affiliation>
</author>
<author><name sortKey="Zuberi, Sameer" sort="Zuberi, Sameer" uniqKey="Zuberi S" first="Sameer" last="Zuberi">Sameer Zuberi</name>
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</affiliation>
</author>
<author><name sortKey="Mcwilliam, Robert" sort="Mcwilliam, Robert" uniqKey="Mcwilliam R" first="Robert" last="Mcwilliam">Robert Mcwilliam</name>
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<country xml:lang="fr">Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Stodberg, Tommy" sort="Stodberg, Tommy" uniqKey="Stodberg T" first="Tommy" last="Stödberg">Tommy Stödberg</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF5">5 Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, 17176 Solna, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
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</affiliation>
</author>
<author><name sortKey="Plecko, Barbara" sort="Plecko, Barbara" uniqKey="Plecko B" first="Barbara" last="Plecko">Barbara Plecko</name>
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<country xml:lang="fr">Suisse</country>
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</affiliation>
</author>
<author><name sortKey="Baumgartner, Matthias R" sort="Baumgartner, Matthias R" uniqKey="Baumgartner M" first="Matthias R." last="Baumgartner">Matthias R. Baumgartner</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF7">7 Division of Metabolic Diseases, University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>7 Division of Metabolic Diseases, University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich</wicri:regionArea>
<wicri:noRegion>Zurich</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maier, Oliver" sort="Maier, Oliver" uniqKey="Maier O" first="Oliver" last="Maier">Oliver Maier</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF8">8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen, Switzerland</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen</wicri:regionArea>
<wicri:noRegion>St. Gallen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Calvert, Sophie" sort="Calvert, Sophie" uniqKey="Calvert S" first="Sophie" last="Calvert">Sophie Calvert</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF9">9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Riney, Kate" sort="Riney, Kate" uniqKey="Riney K" first="Kate" last="Riney">Kate Riney</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF9">9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I." last="Wolf">Nicole I. Wolf</name>
<affiliation wicri:level="3"><nlm:aff id="awu051-AFF10">10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H." last="Livingston">John H. Livingston</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF11">11 Leeds Children’s Hospital, Clarendon Wing, Leeds General Infirmary, Leeds West Yorkshire LS1 3EX, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
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<wicri:noRegion>Leeds West Yorkshire LS1 3EX</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bala, Pronab" sort="Bala, Pronab" uniqKey="Bala P" first="Pronab" last="Bala">Pronab Bala</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF12">12 Airedale NHS Foundation Trust, Skipton Road, Steeton, BD20 6TD, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
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<wicri:noRegion>BD20 6TD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Morel, Chantal F" sort="Morel, Chantal F" uniqKey="Morel C" first="Chantal F." last="Morel">Chantal F. Morel</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF13">13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9</wicri:regionArea>
<wicri:noRegion>M5T 3L9</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF14">14 Reference Centre for Inborn Errors of Metabolism, INSERM U954, Department of Paediatrics, Children’s Hospital of Nancy, Allée du Morvan, Vandoeuvre les Nancy 54500, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>14 Reference Centre for Inborn Errors of Metabolism, INSERM U954, Department of Paediatrics, Children’s Hospital of Nancy, Allée du Morvan, Vandoeuvre les Nancy 54500</wicri:regionArea>
<wicri:noRegion>54500</wicri:noRegion>
<wicri:noRegion>54500</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Raimondi, Francesco" sort="Raimondi, Francesco" uniqKey="Raimondi F" first="Francesco" last="Raimondi">Francesco Raimondi</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF15">15 Department of Medical Translational Sciences, Section of Paediatrics, Università “Federico II” di Napoli, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>15 Department of Medical Translational Sciences, Section of Paediatrics, Università “Federico II” di Napoli</wicri:regionArea>
<wicri:noRegion>Università “Federico II” di Napoli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Del Giudice, Ennio" sort="Del Giudice, Ennio" uniqKey="Del Giudice E" first="Ennio" last="Del Giudice">Ennio Del Giudice</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF16">16 Department of Paediatrics, University of Naples Federico II, Naples, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>16 Department of Paediatrics, University of Naples Federico II, Naples</wicri:regionArea>
<wicri:noRegion>Naples</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chong, W Kling" sort="Chong, W Kling" uniqKey="Chong W" first="W. Kling" last="Chong">W. Kling Chong</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF17">17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH</wicri:regionArea>
<wicri:noRegion>WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pitt, Matthew" sort="Pitt, Matthew" uniqKey="Pitt M" first="Matthew" last="Pitt">Matthew Pitt</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF18">18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH</wicri:regionArea>
<wicri:noRegion>WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T." last="Clayton">Peter T. Clayton</name>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea>
<wicri:noRegion>London WC1N 1EH</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awu051-AFF2">2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea>
<wicri:noRegion>London WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Brain</title>
<idno type="ISSN">0006-8950</idno>
<idno type="eISSN">1460-2156</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Mutations in <italic>PNPO</italic>
are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills <italic>et al</italic>
. show that <italic>PNPO</italic>
mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen with PLP, as well as PLP-responsive infantile spasms.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Albersen, M" uniqKey="Albersen M">M Albersen</name>
</author>
<author><name sortKey="Groenendaal, F" uniqKey="Groenendaal F">F Groenendaal</name>
</author>
<author><name sortKey="Van Der Ham, M" uniqKey="Van Der Ham M">M van der Ham</name>
</author>
<author><name sortKey="De Koning, Tj" uniqKey="De Koning T">TJ de Koning</name>
</author>
<author><name sortKey="Bosma, M" uniqKey="Bosma M">M Bosma</name>
</author>
<author><name sortKey="Visser, Wf" uniqKey="Visser W">WF Visser</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Anderson, Bb" uniqKey="Anderson B">BB Anderson</name>
</author>
<author><name sortKey="Giuberti, M" uniqKey="Giuberti M">M Giuberti</name>
</author>
<author><name sortKey="Perry, Gm" uniqKey="Perry G">GM Perry</name>
</author>
<author><name sortKey="Salsini, G" uniqKey="Salsini G">G Salsini</name>
</author>
<author><name sortKey="Casadio, I" uniqKey="Casadio I">I Casadio</name>
</author>
<author><name sortKey="Vullo, C" uniqKey="Vullo C">C Vullo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bagci, S" uniqKey="Bagci S">S Bagci</name>
</author>
<author><name sortKey="Zschocke, J" uniqKey="Zschocke J">J Zschocke</name>
</author>
<author><name sortKey="Hoffmann, Gf" uniqKey="Hoffmann G">GF Hoffmann</name>
</author>
<author><name sortKey="Bast, T" uniqKey="Bast T">T Bast</name>
</author>
<author><name sortKey="Klepper, J" uniqKey="Klepper J">J Klepper</name>
</author>
<author><name sortKey="Muller, A" uniqKey="Muller A">A Müller</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bitonti, Aj" uniqKey="Bitonti A">AJ Bitonti</name>
</author>
<author><name sortKey="Mccann, Pp" uniqKey="Mccann P">PP McCann</name>
</author>
<author><name sortKey="Sjoerdsma, A" uniqKey="Sjoerdsma A">A Sjoerdsma</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Chern, Cj" uniqKey="Chern C">CJ Chern</name>
</author>
<author><name sortKey="Beutler, E" uniqKey="Beutler E">E Beutler</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Steffens, M" uniqKey="Steffens M">M Steffens</name>
</author>
<author><name sortKey="Leu, C" uniqKey="Leu C">C Leu</name>
</author>
<author><name sortKey="Ruppert, Ak" uniqKey="Ruppert A">AK Ruppert</name>
</author>
<author><name sortKey="Zara, F" uniqKey="Zara F">F Zara</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Flanagan, Jm" uniqKey="Flanagan J">JM Flanagan</name>
</author>
<author><name sortKey="Beutler, E" uniqKey="Beutler E">E Beutler</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Footitt, Ej" uniqKey="Footitt E">EJ Footitt</name>
</author>
<author><name sortKey="Clayton, Pt" uniqKey="Clayton P">PT Clayton</name>
</author>
<author><name sortKey="Mills, K" uniqKey="Mills K">K Mills</name>
</author>
<author><name sortKey="Heales, Sj" uniqKey="Heales S">SJ Heales</name>
</author>
<author><name sortKey="Neergheen, V" uniqKey="Neergheen V">V Neergheen</name>
</author>
<author><name sortKey="Oppenheim, M" uniqKey="Oppenheim M">M Oppenheim</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Footitt, Ej" uniqKey="Footitt E">EJ Footitt</name>
</author>
<author><name sortKey="Heales, Sj" uniqKey="Heales S">SJ Heales</name>
</author>
<author><name sortKey="Mills, Pb" uniqKey="Mills P">PB Mills</name>
</author>
<author><name sortKey="Allen, Gf" uniqKey="Allen G">GF Allen</name>
</author>
<author><name sortKey="Oppenheim, M" uniqKey="Oppenheim M">M Oppenheim</name>
</author>
<author><name sortKey="Clayton, Pt" uniqKey="Clayton P">PT Clayton</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Garcia Cazorla, A" uniqKey="Garcia Cazorla A">A Garcia-Cazorla</name>
</author>
<author><name sortKey="Gibson, Km" uniqKey="Gibson K">KM Gibson</name>
</author>
<author><name sortKey="Clayton, Pt" uniqKey="Clayton P">PT Clayton</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Goyal, M" uniqKey="Goyal M">M Goyal</name>
</author>
<author><name sortKey="Fequiere, Pr" uniqKey="Fequiere P">PR Fequiere</name>
</author>
<author><name sortKey="Mcgrath, Tm" uniqKey="Mcgrath T">TM McGrath</name>
</author>
<author><name sortKey="Hyland, K" uniqKey="Hyland K">K Hyland</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hammen, A" uniqKey="Hammen A">A Hammen</name>
</author>
<author><name sortKey="Wagner, B" uniqKey="Wagner B">B Wagner</name>
</author>
<author><name sortKey="Berkhoff, M" uniqKey="Berkhoff M">M Berkhoff</name>
</author>
<author><name sortKey="Donati, F" uniqKey="Donati F">F Donati</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hazra, A" uniqKey="Hazra A">A Hazra</name>
</author>
<author><name sortKey="Kraft, P" uniqKey="Kraft P">P Kraft</name>
</author>
<author><name sortKey="Lazarus, R" uniqKey="Lazarus R">R Lazarus</name>
</author>
<author><name sortKey="Chen, C" uniqKey="Chen C">C Chen</name>
</author>
<author><name sortKey="Chanock, Sj" uniqKey="Chanock S">SJ Chanock</name>
</author>
<author><name sortKey="Jacques, P" uniqKey="Jacques P">P Jacques</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hoffmann, Gf" uniqKey="Hoffmann G">GF Hoffmann</name>
</author>
<author><name sortKey="Schmitt, B" uniqKey="Schmitt B">B Schmitt</name>
</author>
<author><name sortKey="Windfuhr, M" uniqKey="Windfuhr M">M Windfuhr</name>
</author>
<author><name sortKey="Wagner, N" uniqKey="Wagner N">N Wagner</name>
</author>
<author><name sortKey="Strehl, H" uniqKey="Strehl H">H Strehl</name>
</author>
<author><name sortKey="Bagci, S" uniqKey="Bagci S">S Bagci</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hovi, L" uniqKey="Hovi L">L Hovi</name>
</author>
<author><name sortKey="Hekali, R" uniqKey="Hekali R">R Hekali</name>
</author>
<author><name sortKey="Siimes, Ma" uniqKey="Siimes M">MA Siimes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Iqbal, Mp" uniqKey="Iqbal M">MP Iqbal</name>
</author>
<author><name sortKey="Lindblad, Bs" uniqKey="Lindblad B">BS Lindblad</name>
</author>
<author><name sortKey="Mehboobali, N" uniqKey="Mehboobali N">N Mehboobali</name>
</author>
<author><name sortKey="Yusuf, Fa" uniqKey="Yusuf F">FA Yusuf</name>
</author>
<author><name sortKey="Khan, Ah" uniqKey="Khan A">AH Khan</name>
</author>
<author><name sortKey="Iqbal, Sp" uniqKey="Iqbal S">SP Iqbal</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ishioka, N" uniqKey="Ishioka N">N Ishioka</name>
</author>
<author><name sortKey="Sato, J" uniqKey="Sato J">J Sato</name>
</author>
<author><name sortKey="Nakamura, J" uniqKey="Nakamura J">J Nakamura</name>
</author>
<author><name sortKey="Ohkubo, T" uniqKey="Ohkubo T">T Ohkubo</name>
</author>
<author><name sortKey="Takeda, A" uniqKey="Takeda A">A Takeda</name>
</author>
<author><name sortKey="Kurioka, S" uniqKey="Kurioka S">S Kurioka</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Jonas, R" uniqKey="Jonas R">R Jonas</name>
</author>
<author><name sortKey="Asarnow, Rf" uniqKey="Asarnow R">RF Asarnow</name>
</author>
<author><name sortKey="Lopresti, C" uniqKey="Lopresti C">C LoPresti</name>
</author>
<author><name sortKey="Yudovin, S" uniqKey="Yudovin S">S Yudovin</name>
</author>
<author><name sortKey="Koh, S" uniqKey="Koh S">S Koh</name>
</author>
<author><name sortKey="Wu, Jy" uniqKey="Wu J">JY Wu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kang, Jh" uniqKey="Kang J">JH Kang</name>
</author>
<author><name sortKey="Hong, Ml" uniqKey="Hong M">ML Hong</name>
</author>
<author><name sortKey="Kim, Dw" uniqKey="Kim D">DW Kim</name>
</author>
<author><name sortKey="Park, J" uniqKey="Park J">J Park</name>
</author>
<author><name sortKey="Kang, Tc" uniqKey="Kang T">TC Kang</name>
</author>
<author><name sortKey="Won, Mh" uniqKey="Won M">MH Won</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Khayat, M" uniqKey="Khayat M">M Khayat</name>
</author>
<author><name sortKey="Korman, Sh" uniqKey="Korman S">SH Korman</name>
</author>
<author><name sortKey="Frankel, P" uniqKey="Frankel P">P Frankel</name>
</author>
<author><name sortKey="Weintraub, Z" uniqKey="Weintraub Z">Z Weintraub</name>
</author>
<author><name sortKey="Hershckowitz, S" uniqKey="Hershckowitz S">S Hershckowitz</name>
</author>
<author><name sortKey="Sheffer, Vf" uniqKey="Sheffer V">VF Sheffer</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Levine, S" uniqKey="Levine S">S Levine</name>
</author>
<author><name sortKey="Saltzman, A" uniqKey="Saltzman A">A Saltzman</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Martin, Sk" uniqKey="Martin S">SK Martin</name>
</author>
<author><name sortKey="Miller, Lh" uniqKey="Miller L">LH Miller</name>
</author>
<author><name sortKey="Kark, Ja" uniqKey="Kark J">JA Kark</name>
</author>
<author><name sortKey="Hicks, Cu" uniqKey="Hicks C">CU Hicks</name>
</author>
<author><name sortKey="Haut, Mj" uniqKey="Haut M">MJ Haut</name>
</author>
<author><name sortKey="Okoye, Vc" uniqKey="Okoye V">VC Okoye</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mills, Pb" uniqKey="Mills P">PB Mills</name>
</author>
<author><name sortKey="Footitt, Ej" uniqKey="Footitt E">EJ Footitt</name>
</author>
<author><name sortKey="Clayton, Pt" uniqKey="Clayton P">PT Clayton</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mills, Pb" uniqKey="Mills P">PB Mills</name>
</author>
<author><name sortKey="Footitt, Ej" uniqKey="Footitt E">EJ Footitt</name>
</author>
<author><name sortKey="Mills, Ka" uniqKey="Mills K">KA Mills</name>
</author>
<author><name sortKey="Tuschl, K" uniqKey="Tuschl K">K Tuschl</name>
</author>
<author><name sortKey="Aylett, S" uniqKey="Aylett S">S Aylett</name>
</author>
<author><name sortKey="Varadkar, S" uniqKey="Varadkar S">S Varadkar</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mills, Pb" uniqKey="Mills P">PB Mills</name>
</author>
<author><name sortKey="Surtees, Rah" uniqKey="Surtees R">RAH Surtees</name>
</author>
<author><name sortKey="Champion, Mp" uniqKey="Champion M">MP Champion</name>
</author>
<author><name sortKey="Beesley, Ce" uniqKey="Beesley C">CE Beesley</name>
</author>
<author><name sortKey="Dalton, N" uniqKey="Dalton N">N Dalton</name>
</author>
<author><name sortKey="Scambler, Pj" uniqKey="Scambler P">PJ Scambler</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Muller, S" uniqKey="Muller S">S Müller</name>
</author>
<author><name sortKey="Kappes, B" uniqKey="Kappes B">B Kappes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Musayev, Fn" uniqKey="Musayev F">FN Musayev</name>
</author>
<author><name sortKey="Di Salvo, Ml" uniqKey="Di Salvo M">ML Di Salvo</name>
</author>
<author><name sortKey="Ko, T P" uniqKey="Ko T">T-P Ko</name>
</author>
<author><name sortKey="Schirch, V" uniqKey="Schirch V">V Schirch</name>
</author>
<author><name sortKey="Safo, Mk" uniqKey="Safo M">MK Safo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Musayev, Fn" uniqKey="Musayev F">FN Musayev</name>
</author>
<author><name sortKey="Di Salvo, Ml" uniqKey="Di Salvo M">ML Di Salvo</name>
</author>
<author><name sortKey="Saavedra, Ma" uniqKey="Saavedra M">MA Saavedra</name>
</author>
<author><name sortKey="Contestabile, R" uniqKey="Contestabile R">R Contestabile</name>
</author>
<author><name sortKey="Ghatge, Ms" uniqKey="Ghatge M">MS Ghatge</name>
</author>
<author><name sortKey="Haynes, A" uniqKey="Haynes A">A Haynes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ngo, Eo" uniqKey="Ngo E">EO Ngo</name>
</author>
<author><name sortKey="Lepage, Gr" uniqKey="Lepage G">GR LePage</name>
</author>
<author><name sortKey="Thanassi, Jw" uniqKey="Thanassi J">JW Thanassi</name>
</author>
<author><name sortKey="Meisler, N" uniqKey="Meisler N">N Meisler</name>
</author>
<author><name sortKey="Nutter, Lm" uniqKey="Nutter L">LM Nutter</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ormazabal, A" uniqKey="Ormazabal A">A Ormazabal</name>
</author>
<author><name sortKey="Oppenheim, M" uniqKey="Oppenheim M">M Oppenheim</name>
</author>
<author><name sortKey="Serrano, M" uniqKey="Serrano M">M Serrano</name>
</author>
<author><name sortKey="Garcia Cazorla, A" uniqKey="Garcia Cazorla A">A García-Cazorla</name>
</author>
<author><name sortKey="Campistol, J" uniqKey="Campistol J">J Campistol</name>
</author>
<author><name sortKey="Ribes, A" uniqKey="Ribes A">A Ribes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pearl, Pl" uniqKey="Pearl P">PL Pearl</name>
</author>
<author><name sortKey="Hyland, K" uniqKey="Hyland K">K Hyland</name>
</author>
<author><name sortKey="Chiles, J" uniqKey="Chiles J">J Chiles</name>
</author>
<author><name sortKey="Mcgavin, Cl" uniqKey="Mcgavin C">CL McGavin</name>
</author>
<author><name sortKey="Yu, Y" uniqKey="Yu Y">Y Yu</name>
</author>
<author><name sortKey="Taylor, D" uniqKey="Taylor D">D Taylor</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Polizzi, A" uniqKey="Polizzi A">A Polizzi</name>
</author>
<author><name sortKey="Tesse, R" uniqKey="Tesse R">R Tesse</name>
</author>
<author><name sortKey="Santostasi, T" uniqKey="Santostasi T">T Santostasi</name>
</author>
<author><name sortKey="Diana, A" uniqKey="Diana A">A Diana</name>
</author>
<author><name sortKey="Manca, A" uniqKey="Manca A">A Manca</name>
</author>
<author><name sortKey="Logrillo, Vp" uniqKey="Logrillo V">VP Logrillo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ramensky, V" uniqKey="Ramensky V">V Ramensky</name>
</author>
<author><name sortKey="Bork, P" uniqKey="Bork P">P Bork</name>
</author>
<author><name sortKey="Sunyaev, S" uniqKey="Sunyaev S">S Sunyaev</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ruiz, A" uniqKey="Ruiz A">A Ruiz</name>
</author>
<author><name sortKey="Garcia Villoria, J" uniqKey="Garcia Villoria J">J Garcia-Villoria</name>
</author>
<author><name sortKey="Ormazabal, A" uniqKey="Ormazabal A">A Ormazabal</name>
</author>
<author><name sortKey="Zschocke, J" uniqKey="Zschocke J">J Zschocke</name>
</author>
<author><name sortKey="Fiol, M" uniqKey="Fiol M">M Fiol</name>
</author>
<author><name sortKey="Navarro Sastre, A" uniqKey="Navarro Sastre A">A Navarro-Sastre</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Safo, Mk" uniqKey="Safo M">MK Safo</name>
</author>
<author><name sortKey="Musayev, Fn" uniqKey="Musayev F">FN Musayev</name>
</author>
<author><name sortKey="Schirch, V" uniqKey="Schirch V">V Schirch</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schenker, S" uniqKey="Schenker S">S Schenker</name>
</author>
<author><name sortKey="Johnson, Rf" uniqKey="Johnson R">RF Johnson</name>
</author>
<author><name sortKey="Mahuren, Jd" uniqKey="Mahuren J">JD Mahuren</name>
</author>
<author><name sortKey="Henderson, Gi" uniqKey="Henderson G">GI Henderson</name>
</author>
<author><name sortKey="Coburn, Sp" uniqKey="Coburn S">SP Coburn</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sim, Nl" uniqKey="Sim N">NL Sim</name>
</author>
<author><name sortKey="Kumar, P" uniqKey="Kumar P">P Kumar</name>
</author>
<author><name sortKey="Hu, J" uniqKey="Hu J">J Hu</name>
</author>
<author><name sortKey="Henikoff, S" uniqKey="Henikoff S">S Henikoff</name>
</author>
<author><name sortKey="Schneider, G" uniqKey="Schneider G">G Schneider</name>
</author>
<author><name sortKey="Ng, Pc" uniqKey="Ng P">PC Ng</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Takeuchi, F" uniqKey="Takeuchi F">F Takeuchi</name>
</author>
<author><name sortKey="Tsubouchi, R" uniqKey="Tsubouchi R">R Tsubouchi</name>
</author>
<author><name sortKey="Shibata, Y" uniqKey="Shibata Y">Y Shibata</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tanaka, T" uniqKey="Tanaka T">T Tanaka</name>
</author>
<author><name sortKey="Scheet, P" uniqKey="Scheet P">P Scheet</name>
</author>
<author><name sortKey="Giusti, B" uniqKey="Giusti B">B Giusti</name>
</author>
<author><name sortKey="Bandinelli, S" uniqKey="Bandinelli S">S Bandinelli</name>
</author>
<author><name sortKey="Piras, Mg" uniqKey="Piras M">MG Piras</name>
</author>
<author><name sortKey="Usala, G" uniqKey="Usala G">G Usala</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Veerapandiyan, A" uniqKey="Veerapandiyan A">A Veerapandiyan</name>
</author>
<author><name sortKey="Winchester, Sa" uniqKey="Winchester S">SA Winchester</name>
</author>
<author><name sortKey="Gallentine, Wb" uniqKey="Gallentine W">WB Gallentine</name>
</author>
<author><name sortKey="Smith, Ec" uniqKey="Smith E">EC Smith</name>
</author>
<author><name sortKey="Kansagra, S" uniqKey="Kansagra S">S Kansagra</name>
</author>
<author><name sortKey="Hyland, K" uniqKey="Hyland K">K Hyland</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wang, Hs" uniqKey="Wang H">HS Wang</name>
</author>
<author><name sortKey="Kuo, Mf" uniqKey="Kuo M">MF Kuo</name>
</author>
<author><name sortKey="Chou, Ml" uniqKey="Chou M">ML Chou</name>
</author>
<author><name sortKey="Hung, Pc" uniqKey="Hung P">PC Hung</name>
</author>
<author><name sortKey="Lin, Kl" uniqKey="Lin K">KL Lin</name>
</author>
<author><name sortKey="Hsieh, My" uniqKey="Hsieh M">MY Hsieh</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yoshida, I" uniqKey="Yoshida I">I Yoshida</name>
</author>
<author><name sortKey="Sakaguchi, Y" uniqKey="Sakaguchi Y">Y Sakaguchi</name>
</author>
<author><name sortKey="Nakano, M" uniqKey="Nakano M">M Nakano</name>
</author>
<author><name sortKey="Yamashita, F" uniqKey="Yamashita F">F Yamashita</name>
</author>
<author><name sortKey="Hitoshi, T" uniqKey="Hitoshi T">T Hitoshi</name>
</author>
</analytic>
</biblStruct>
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