Emerging topics in FXTAS
Identifieur interne : 003991 ( Main/Exploration ); précédent : 003990; suivant : 003992Emerging topics in FXTAS
Auteurs : Deborah A. Hall [États-Unis] ; Rachael C. Birch [Australie] ; Mathieu Anheim [France] ; Aia E. J Nch [Danemark] ; Elizabeth Pintado [Espagne] ; Joanne O Eefe [États-Unis] ; Julian N. Trollor [Australie] ; Glenn T. Stebbins [États-Unis] ; Randi J. Hagerman [États-Unis] ; Stanley Fahn [États-Unis] ; Elizabeth Berry-Kravis [États-Unis] ; Maureen A. Leehey [États-Unis]Source :
- Journal of Neurodevelopmental Disorders [ 1866-1947 ] ; 2014.
Abstract
This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the
Url:
DOI: 10.1186/1866-1955-6-31
PubMed: 25642984
PubMed Central: 4141265
Affiliations:
- Australie, Danemark, Espagne, France, États-Unis
- Alsace (région administrative), Californie, Colorado, Grand Est, Hovedstaden, Illinois, Nouvelle-Galles du Sud, État de New York
- Copenhague, New York, Strasbourg, Sydney
- Université Columbia, Université de Strasbourg
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Hall</name><affiliation wicri:level="2"><nlm:aff id="I1">Department of Neurological Sciences, Rush University, Chicago, IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurological Sciences, Rush University, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Birch, Rachael C" sort="Birch, Rachael C" uniqKey="Birch R" first="Rachael C" last="Birch">Rachael C. Birch</name><affiliation wicri:level="3"><nlm:aff id="I2">Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation wicri:level="1"><nlm:aff id="I3">Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, Cedex</wicri:regionArea><wicri:noRegion>Cedex</wicri:noRegion><wicri:noRegion>Cedex</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="I4">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea><wicri:noRegion>67404 Illkirch</wicri:noRegion><orgName type="university">Université de Strasbourg</orgName><placeName><settlement type="city">Strasbourg</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="I5">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement><settlement type="city">Strasbourg</settlement></placeName><orgName type="university">Université de Strasbourg</orgName></affiliation></author><author><name sortKey="J Nch, Aia E" sort="J Nch, Aia E" uniqKey="J Nch A" first="Aia E" last="J Nch">Aia E. J Nch</name><affiliation wicri:level="3"><nlm:aff id="I6">Department of clinical Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of clinical Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Pintado, Elizabeth" sort="Pintado, Elizabeth" uniqKey="Pintado E" first="Elizabeth" last="Pintado">Elizabeth Pintado</name><affiliation wicri:level="1"><nlm:aff id="I7">Department of Medical Biochemistry and Molecular Biology, University of Seville, Sevilla, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Medical Biochemistry and Molecular Biology, University of Seville, Sevilla</wicri:regionArea><wicri:noRegion>Sevilla</wicri:noRegion></affiliation></author><author><name sortKey="O Eefe, Joanne" sort="O Eefe, Joanne" uniqKey="O Eefe J" first="Joanne" last="O Eefe">Joanne O Eefe</name><affiliation wicri:level="2"><nlm:aff id="I8">Department of Anatomy & Cell Biology, Rush University, Chicago, IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Anatomy & Cell Biology, Rush University, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Trollor, Julian N" sort="Trollor, Julian N" uniqKey="Trollor J" first="Julian N" last="Trollor">Julian N. Trollor</name><affiliation wicri:level="3"><nlm:aff id="I2">Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="I13">Centre for Healthy Brain Ageing, University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Healthy Brain Ageing, University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Stebbins, Glenn T" sort="Stebbins, Glenn T" uniqKey="Stebbins G" first="Glenn T" last="Stebbins">Glenn T. Stebbins</name><affiliation wicri:level="2"><nlm:aff id="I1">Department of Neurological Sciences, Rush University, Chicago, IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurological Sciences, Rush University, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J" last="Hagerman">Randi J. Hagerman</name><affiliation wicri:level="2"><nlm:aff id="I9">Department of Pediatrics & M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics & M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="4"><nlm:aff id="I10">Department of Neurology, Columbia University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Columbia University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name><affiliation wicri:level="2"><nlm:aff id="I1">Department of Neurological Sciences, Rush University, Chicago, IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurological Sciences, Rush University, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="I11">Departments of Pediatrics and Biochemistry, Rush University, Chicago, IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Biochemistry, Rush University, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A" last="Leehey">Maureen A. Leehey</name><affiliation wicri:level="2"><nlm:aff id="I12">Department of Neurology, University of Colorado at Denver, Denver, CO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Colorado at Denver, Denver, CO</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author></analytic><series><title level="j">Journal of Neurodevelopmental Disorders</title><idno type="ISSN">1866-1947</idno><idno type="eISSN">1866-1955</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>This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the <italic>FMR1</italic> Premutation: Basic Mechanisms & Clinical Involvement in 2013.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hagerman, Rj" uniqKey="Hagerman R">RJ Hagerman</name></author><author><name sortKey="Leehey, Ma" uniqKey="Leehey M">MA Leehey</name></author><author><name sortKey="Heinrichs, W" uniqKey="Heinrichs W">W Heinrichs</name></author><author><name sortKey="Tassone, F" uniqKey="Tassone F">F Tassone</name></author><author><name sortKey="Wilson, R" uniqKey="Wilson R">R Wilson</name></author><author><name sortKey="Hills, J" uniqKey="Hills J">J Hills</name></author><author><name sortKey="Grigsby, J" uniqKey="Grigsby J">J Grigsby</name></author><author><name sortKey="Gage, B" uniqKey="Gage B">B Gage</name></author><author><name sortKey="Hagerman, Pj" uniqKey="Hagerman P">PJ Hagerman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Leehey, M" uniqKey="Leehey M">M Leehey</name></author><author><name sortKey="Hagerman, Rj" uniqKey="Hagerman R">RJ Hagerman</name></author><author><name 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uniqKey="Trouillas P">P Trouillas</name></author><author><name sortKey="Takayanagi, T" uniqKey="Takayanagi T">T Takayanagi</name></author><author><name sortKey="Hallett, M" uniqKey="Hallett M">M Hallett</name></author><author><name sortKey="Currier, R" uniqKey="Currier R">R Currier</name></author><author><name sortKey="Subramony, S" uniqKey="Subramony S">S Subramony</name></author><author><name sortKey="Wessel, K" uniqKey="Wessel K">K Wessel</name></author><author><name sortKey="Bryer, A" uniqKey="Bryer A">A Bryer</name></author><author><name sortKey="Diener, Hc" uniqKey="Diener H">HC Diener</name></author><author><name sortKey="Hassaquoi, S" uniqKey="Hassaquoi S">S Hassaquoi</name></author><author><name sortKey="Gomez, Cm" uniqKey="Gomez C">CM Gomez</name></author><author><name sortKey="Coutinho, P" uniqKey="Coutinho P">P Coutinho</name></author><author><name sortKey="Ben Hamida, M" uniqKey="Ben Hamida M">M Ben Hamida</name></author><author><name sortKey="Campanella, G" 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Berry-Kravis</name></author><author><name sortKey="Ouyang, B" uniqKey="Ouyang B">B Ouyang</name></author><author><name sortKey="Hall, Da" uniqKey="Hall D">DA Hall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lipton, Sa" uniqKey="Lipton S">SA Lipton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ortigas, Mc" uniqKey="Ortigas M">MC Ortigas</name></author><author><name sortKey="Bourgeois, Ja" uniqKey="Bourgeois J">JA Bourgeois</name></author><author><name sortKey="Schneider, A" uniqKey="Schneider A">A Schneider</name></author><author><name sortKey="Olichney, J" uniqKey="Olichney J">J Olichney</name></author><author><name sortKey="Nguyen, Dv" uniqKey="Nguyen D">DV Nguyen</name></author><author><name sortKey="Cogswell, Jb" uniqKey="Cogswell J">JB Cogswell</name></author><author><name sortKey="Hall, Da" uniqKey="Hall D">DA Hall</name></author><author><name sortKey="Hagerman, Rj" uniqKey="Hagerman R">RJ Hagerman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cao, Z" uniqKey="Cao Z">Z Cao</name></author><author><name sortKey="Hulsizer, S" uniqKey="Hulsizer S">S Hulsizer</name></author><author><name sortKey="Tassone, F" uniqKey="Tassone F">F Tassone</name></author><author><name sortKey="Tang, Ht" uniqKey="Tang H">HT Tang</name></author><author><name sortKey="Hagerman, Rj" uniqKey="Hagerman R">RJ Hagerman</name></author><author><name sortKey="Rogawski, Ma" uniqKey="Rogawski M">MA Rogawski</name></author><author><name sortKey="Hagerman, Pj" uniqKey="Hagerman P">PJ Hagerman</name></author><author><name sortKey="Pessah, In" uniqKey="Pessah I">IN Pessah</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li><li>Danemark</li><li>Espagne</li><li>France</li><li>États-Unis</li></country><region><li>Alsace (région administrative)</li><li>Californie</li><li>Colorado</li><li>Grand Est</li><li>Hovedstaden</li><li>Illinois</li><li>Nouvelle-Galles du Sud</li><li>État de New York</li></region><settlement><li>Copenhague</li><li>New York</li><li>Strasbourg</li><li>Sydney</li></settlement><orgName><li>Université Columbia</li><li>Université de Strasbourg</li></orgName></list><tree><country name="États-Unis"><region name="Illinois"><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A" last="Hall">Deborah A. Hall</name></region><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J" last="Hagerman">Randi J. Hagerman</name><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A" last="Leehey">Maureen A. Leehey</name><name sortKey="O Eefe, Joanne" sort="O Eefe, Joanne" uniqKey="O Eefe J" first="Joanne" last="O Eefe">Joanne O Eefe</name><name sortKey="Stebbins, Glenn T" sort="Stebbins, Glenn T" uniqKey="Stebbins G" first="Glenn T" last="Stebbins">Glenn T. Stebbins</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Birch, Rachael C" sort="Birch, Rachael C" uniqKey="Birch R" first="Rachael C" last="Birch">Rachael C. Birch</name></region><name sortKey="Trollor, Julian N" sort="Trollor, Julian N" uniqKey="Trollor J" first="Julian N" last="Trollor">Julian N. Trollor</name><name sortKey="Trollor, Julian N" sort="Trollor, Julian N" uniqKey="Trollor J" first="Julian N" last="Trollor">Julian N. Trollor</name></country><country name="France"><noRegion><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name></noRegion><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="J Nch, Aia E" sort="J Nch, Aia E" uniqKey="J Nch A" first="Aia E" last="J Nch">Aia E. J Nch</name></region></country><country name="Espagne"><noRegion><name sortKey="Pintado, Elizabeth" sort="Pintado, Elizabeth" uniqKey="Pintado E" first="Elizabeth" last="Pintado">Elizabeth Pintado</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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