Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family
Identifieur interne : 000F80 ( Main/Merge ); précédent : 000F79; suivant : 000F81Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family
Auteurs : Maja Kojovic [Royaume-Uni] ; Una-Marie Sheerin [Royaume-Uni] ; Ignacio Rubio-Agusti [Royaume-Uni] ; Anirban Saha [Royaume-Uni] ; Jose Bras [Royaume-Uni] ; Vaneesha Gibbons [Royaume-Uni] ; Rodger Palmer [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
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- Pascal (Inist)
English descriptors
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Pascal:13-0063593Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family</title><author><name sortKey="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Saha, Anirban" sort="Saha, Anirban" uniqKey="Saha A" first="Anirban" last="Saha">Anirban Saha</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Hurstwood Park Neurological Centre, Haywards Heath</s1><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hurstwood Park Neurological Centre, Haywards Heath</wicri:noRegion></affiliation></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gibbons, Vaneesha" sort="Gibbons, Vaneesha" uniqKey="Gibbons V" first="Vaneesha" last="Gibbons">Vaneesha Gibbons</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Palmer, Rodger" sort="Palmer, Rodger" uniqKey="Palmer R" first="Rodger" last="Palmer">Rodger Palmer</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Regional Cytogenetics Laboratory, North East Thames Regional Genetics Service, Great Ormond Street Hospital National Health Service (NHS) Trust, London</s1><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Molecular Neuroscience, and Reta Lila Weston Trust for Medical Research, UCL Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>UCL Genetics Institute, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">13-0063593</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 13-0063593 INIST</idno><idno type="RBID">Pascal:13-0063593</idno><idno type="wicri:Area/PascalFrancis/Corpus">000009</idno><idno type="wicri:Area/PascalFrancis/Curation">002D05</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000001</idno><idno type="wicri:doubleKey">0885-3185:2012:Kojovic M:young:onset:parkinsonism</idno><idno type="wicri:Area/Main/Merge">000F80</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family</title><author><name sortKey="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Saha, Anirban" sort="Saha, Anirban" uniqKey="Saha A" first="Anirban" last="Saha">Anirban Saha</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Hurstwood Park Neurological Centre, Haywards Heath</s1><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hurstwood Park Neurological Centre, Haywards Heath</wicri:noRegion></affiliation></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gibbons, Vaneesha" sort="Gibbons, Vaneesha" uniqKey="Gibbons V" first="Vaneesha" last="Gibbons">Vaneesha Gibbons</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Palmer, Rodger" sort="Palmer, Rodger" uniqKey="Palmer R" first="Rodger" last="Palmer">Rodger Palmer</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Regional Cytogenetics Laboratory, North East Thames Regional Genetics Service, Great Ormond Street Hospital National Health Service (NHS) Trust, London</s1><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Molecular Neuroscience, and Reta Lila Weston Trust for Medical Research, UCL Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>UCL Genetics Institute, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Duplication</term><term>Homozygosity</term><term>Nervous system diseases</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Homozygotie</term><term>Duplication</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><name sortKey="Gibbons, Vaneesha" sort="Gibbons, Vaneesha" uniqKey="Gibbons V" first="Vaneesha" last="Gibbons">Vaneesha Gibbons</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><name sortKey="Palmer, Rodger" sort="Palmer, Rodger" uniqKey="Palmer R" first="Rodger" last="Palmer">Rodger Palmer</name><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name><name sortKey="Saha, Anirban" sort="Saha, Anirban" uniqKey="Saha A" first="Anirban" last="Saha">Anirban Saha</name><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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