Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ‐1 (T497C) genes in familial Parkinson's disease from the GenePD study
Identifieur interne : 002A88 ( Main/Exploration ); précédent : 002A87; suivant : 002A89Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ‐1 (T497C) genes in familial Parkinson's disease from the GenePD study
Auteurs : Samer Karamohamed [États-Unis] ; L. I. Golbe [États-Unis] ; M. H. Mark [États-Unis] ; A. M. Lazzarini [États-Unis] ; O. Suchowersky [Canada] ; N. Labelle [Canada] ; Mark Guttman [Canada] ; L. J. Currie [États-Unis] ; G. F. Wooten [États-Unis] ; M. Stacy [États-Unis] ; M. Saint-Hilaire [États-Unis] ; R. G. Feldman [États-Unis] ; J. Liu [États-Unis] ; C. M. Shoemaker [États-Unis] ; J. B. Wilk [États-Unis] ; A. L. Destefano [États-Unis] ; J. C. Latourelle [États-Unis] ; G. Xu [États-Unis] ; R. Watts [États-Unis] ; J. Growdon [États-Unis] ; M. Lew [États-Unis] ; C. Waters [États-Unis] ; P. Vieregge [Allemagne] ; P. P. Pramstaller [Italie] ; C. Klein [Allemagne] ; B. A. Racette [États-Unis] ; J. S. Perlmutter [États-Unis] ; A. Parsian [États-Unis] ; Carlos Singer [États-Unis] ; E. Montgomery [États-Unis] ; K. Baker [États-Unis] ; J. F. Gusella [États-Unis] ; A. Herbert [États-Unis] ; R. H. Myers [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-09.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ‐1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20515
Affiliations:
- Allemagne, Canada, Italie, États-Unis
- Alberta, Arizona, Californie, Floride, Géorgie (États-Unis), Kentucky, Massachusetts, Missouri (État), New Jersey, Ohio, Ontario, Virginie
- Calgary, Los Angeles, Saint-Louis (Missouri), Toronto
- Université de Calgary, Université de Californie du Sud, Université de Toronto, École de médecine (Université Washington de Saint-Louis)
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001136
- to stream Istex, to step Curation: 001136
- to stream Istex, to step Checkpoint: 000D16
- to stream Main, to step Merge: 002E20
- to stream PascalFrancis, to step Corpus: 000877
- to stream PascalFrancis, to step Curation: 000446
- to stream PascalFrancis, to step Checkpoint: 000825
- to stream Main, to step Merge: 002E93
- to stream Main, to step Curation: 002A88
Le document en format XML
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Labelle</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary, Calgary, Alberta</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></affiliation></author><author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Department of Medicine, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Currie, L J" sort="Currie, L J" uniqKey="Currie L" first="L. J." last="Currie">L. J. Currie</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author><author><name sortKey="Wooten, G F" sort="Wooten, G F" uniqKey="Wooten G" first="G. F." last="Wooten">G. F. Wooten</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author><author><name sortKey="Stacy, M" sort="Stacy, M" uniqKey="Stacy M" first="M." last="Stacy">M. Stacy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Barrow Clinic, Phoenix, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Saint Ilaire, M" sort="Saint Ilaire, M" uniqKey="Saint Ilaire M" first="M." last="Saint-Hilaire">M. Saint-Hilaire</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Feldman, R G" sort="Feldman, R G" uniqKey="Feldman R" first="R. G." last="Feldman">R. G. Feldman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Liu, J" sort="Liu, J" uniqKey="Liu J" first="J." last="Liu">J. Liu</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Shoemaker, C M" sort="Shoemaker, C M" uniqKey="Shoemaker C" first="C. M." last="Shoemaker">C. M. Shoemaker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Wilk, J B" sort="Wilk, J B" uniqKey="Wilk J" first="J. B." last="Wilk">J. B. Wilk</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Destefano, A L" sort="Destefano, A L" uniqKey="Destefano A" first="A. L." last="Destefano">A. L. Destefano</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Latourelle, J C" sort="Latourelle, J C" uniqKey="Latourelle J" first="J. C." last="Latourelle">J. C. Latourelle</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Xu, G" sort="Xu, G" uniqKey="Xu G" first="G." last="Xu">G. Xu</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Watts, R" sort="Watts, R" uniqKey="Watts R" first="R." last="Watts">R. Watts</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Emory University, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Growdon, J" sort="Growdon, J" uniqKey="Growdon J" first="J." last="Growdon">J. Growdon</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M." last="Lew">M. Lew</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Southern California, Los Angeles, California</wicri:regionArea><placeName><region type="state">Californie</region><settlement type="city">Los Angeles</settlement></placeName><orgName type="university">Université de Californie du Sud</orgName></affiliation></author><author><name sortKey="Waters, C" sort="Waters, C" uniqKey="Waters C" first="C." last="Waters">C. Waters</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Southern California, Los Angeles, California</wicri:regionArea><placeName><region type="state">Californie</region><settlement type="city">Los Angeles</settlement></placeName><orgName type="university">Université de Californie du Sud</orgName></affiliation></author><author><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, General Regional Hospital Bolzano, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Racette, B A" sort="Racette, B A" uniqKey="Racette B" first="B. A." last="Racette">B. A. Racette</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Perlmutter, J S" sort="Perlmutter, J S" uniqKey="Perlmutter J" first="J. S." last="Perlmutter">J. S. Perlmutter</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center, Louisville, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Montgomery, E" sort="Montgomery, E" uniqKey="Montgomery E" first="E." last="Montgomery">E. Montgomery</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Baker, K" sort="Baker, K" uniqKey="Baker K" first="K." last="Baker">K. Baker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J. F." last="Gusella">J. F. Gusella</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A." last="Herbert">A. Herbert</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R. H." last="Myers">R. H. Myers</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-09">2005-09</date><biblScope unit="volume">20</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1188">1188</biblScope><biblScope unit="page" to="1191">1191</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0E9235FEA12FFB840C7F40DFADC1912B8D698C29</idno><idno type="DOI">10.1002/mds.20515</idno><idno type="ArticleID">MDS20515</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Familial disease</term><term>GenePD study</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Risk factor</term><term>genetic risk factors</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Facteur risque</term><term>Maladie familiale</term><term>Parkinson maladie</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ‐1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>Italie</li><li>États-Unis</li></country><region><li>Alberta</li><li>Arizona</li><li>Californie</li><li>Floride</li><li>Géorgie (États-Unis)</li><li>Kentucky</li><li>Massachusetts</li><li>Missouri (État)</li><li>New Jersey</li><li>Ohio</li><li>Ontario</li><li>Virginie</li></region><settlement><li>Calgary</li><li>Los Angeles</li><li>Saint-Louis (Missouri)</li><li>Toronto</li></settlement><orgName><li>Université de Calgary</li><li>Université de Californie du Sud</li><li>Université de Toronto</li><li>École de médecine (Université Washington de Saint-Louis)</li></orgName></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Karamohamed, Samer" sort="Karamohamed, Samer" uniqKey="Karamohamed S" first="Samer" last="Karamohamed">Samer Karamohamed</name></region><name sortKey="Baker, K" sort="Baker, K" uniqKey="Baker K" first="K." last="Baker">K. Baker</name><name sortKey="Currie, L J" sort="Currie, L J" uniqKey="Currie L" first="L. J." last="Currie">L. J. Currie</name><name sortKey="Destefano, A L" sort="Destefano, A L" uniqKey="Destefano A" first="A. L." last="Destefano">A. L. Destefano</name><name sortKey="Feldman, R G" sort="Feldman, R G" uniqKey="Feldman R" first="R. G." last="Feldman">R. G. Feldman</name><name sortKey="Golbe, L I" sort="Golbe, L I" uniqKey="Golbe L" first="L. I." last="Golbe">L. I. Golbe</name><name sortKey="Growdon, J" sort="Growdon, J" uniqKey="Growdon J" first="J." last="Growdon">J. Growdon</name><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J. F." last="Gusella">J. F. Gusella</name><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A." last="Herbert">A. Herbert</name><name sortKey="Latourelle, J C" sort="Latourelle, J C" uniqKey="Latourelle J" first="J. C." last="Latourelle">J. C. Latourelle</name><name sortKey="Lazzarini, A M" sort="Lazzarini, A M" uniqKey="Lazzarini A" first="A. M." last="Lazzarini">A. M. Lazzarini</name><name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M." last="Lew">M. Lew</name><name sortKey="Liu, J" sort="Liu, J" uniqKey="Liu J" first="J." last="Liu">J. Liu</name><name sortKey="Mark, M H" sort="Mark, M H" uniqKey="Mark M" first="M. H." last="Mark">M. H. Mark</name><name sortKey="Montgomery, E" sort="Montgomery, E" uniqKey="Montgomery E" first="E." last="Montgomery">E. Montgomery</name><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R. H." last="Myers">R. H. Myers</name><name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name><name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name><name sortKey="Perlmutter, J S" sort="Perlmutter, J S" uniqKey="Perlmutter J" first="J. S." last="Perlmutter">J. S. Perlmutter</name><name sortKey="Racette, B A" sort="Racette, B A" uniqKey="Racette B" first="B. A." last="Racette">B. A. Racette</name><name sortKey="Saint Ilaire, M" sort="Saint Ilaire, M" uniqKey="Saint Ilaire M" first="M." last="Saint-Hilaire">M. Saint-Hilaire</name><name sortKey="Shoemaker, C M" sort="Shoemaker, C M" uniqKey="Shoemaker C" first="C. M." last="Shoemaker">C. M. Shoemaker</name><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name><name sortKey="Stacy, M" sort="Stacy, M" uniqKey="Stacy M" first="M." last="Stacy">M. Stacy</name><name sortKey="Waters, C" sort="Waters, C" uniqKey="Waters C" first="C." last="Waters">C. Waters</name><name sortKey="Watts, R" sort="Watts, R" uniqKey="Watts R" first="R." last="Watts">R. Watts</name><name sortKey="Wilk, J B" sort="Wilk, J B" uniqKey="Wilk J" first="J. B." last="Wilk">J. B. Wilk</name><name sortKey="Wooten, G F" sort="Wooten, G F" uniqKey="Wooten G" first="G. F." last="Wooten">G. F. Wooten</name><name sortKey="Xu, G" sort="Xu, G" uniqKey="Xu G" first="G." last="Xu">G. Xu</name></country><country name="Canada"><region name="Alberta"><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O." last="Suchowersky">O. Suchowersky</name></region><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name><name sortKey="Labelle, N" sort="Labelle, N" uniqKey="Labelle N" first="N." last="Labelle">N. Labelle</name></country><country name="Allemagne"><noRegion><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name></noRegion><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name></country><country name="Italie"><noRegion><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ‐1 (T497C) genes in familial Parkinson's disease from the GenePD study
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