ParkinsonCanadaV1, France, Analysis, bibRecord, 000170

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

Identifieur interne : 000170 ( France/Analysis ); précédent : 000169; suivant : 000171

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

Auteurs : Marie-Christine Chartier-Harlin [France] ; Justus C. Dachsel [États-Unis] ; Carles Vilarino-Güell [Canada] ; Sarah J. Lincoln [États-Unis] ; Frédéric Lepretre [France] ; Mary M. Hulihan [États-Unis] ; Jennifer Kachergus [États-Unis] ; Austen J. Milnerwood [Canada] ; Lucia Tapia [Canada] ; Mee-Sook Song [Canada] ; Emilie Le Rhun [France] ; Eugénie Mutez [France] ; Lydie Larvor [France] ; Aurélie Duflot [France] ; Christel Vanbesien-Mailliot [France] ; Alexandre Kreisler [France] ; Owen A. Ross [États-Unis] ; Kenya Nishioka [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Heather L. Melrose [États-Unis] ; Bahareh Behrouz [États-Unis] ; Brett H. Keeling [États-Unis] ; Justin A. Bacon [États-Unis] ; Emna Hentati [États-Unis] ; Lindsey Williams [États-Unis] ; Akiko Yanagiya [Canada] ; Nahum Sonenberg [Canada] ; Paul J. Lockhart [Australie] ; Abba C. Zubair [États-Unis] ; Ryan J. Uitti [États-Unis] ; Jan O. Aasly [Norvège] ; Anna Krygowska-Wajs [Pologne] ; Grzegorz Opala [Pologne] ; Zbigniew K. Wszolek [États-Unis] ; Roberta Frigerio ; Demetrius M. Maraganore ; David Gosal ; Tim Lynch ; Michael Hutchinson ; Anna Rita Bentivoglio ; Enza Maria Valente ; William C. Nichols ; Nathan Pankratz ; Tatiana Foroud ; Rachel A. Gibson ; Faycal Hentati ; Dennis W. Dickson [États-Unis] ; Alain Destée [France] ; Matthew J. Farrer [États-Unis, Canada]

Source :

American journal of human genetics [ 0002-9297 ] ; 2011.

RBID : Pascal:11-0441104

Descripteurs français

Pascal (Inist)
- Maladie familiale, Maladie de Parkinson, Amorceur, Mutation, Génétique, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Familial disease, Genetics, Human, Initiator, Mutation, Parkinson disease.

Abstract

Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.

Affiliations:

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Pascal:11-0441104

Le document en format XML

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<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1>
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<country>France</country>
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<country>France</country>
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<country>France</country>
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<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1>
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<country>France</country>
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<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences</s1>
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<country>France</country>
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<country>France</country>
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<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1>
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<country>France</country>
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</placeName>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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</affiliation>
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<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
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<country>États-Unis</country>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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<author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name>
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<author><name sortKey="Keeling, Brett H" sort="Keeling, Brett H" uniqKey="Keeling B" first="Brett H." last="Keeling">Brett H. Keeling</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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</affiliation>
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<author><name sortKey="Williams, Lindsey" sort="Williams, Lindsey" uniqKey="Williams L" first="Lindsey" last="Williams">Lindsey Williams</name>
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<author><name sortKey="Yanagiya, Akiko" sort="Yanagiya, Akiko" uniqKey="Yanagiya A" first="Akiko" last="Yanagiya">Akiko Yanagiya</name>
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<country>Canada</country>
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</affiliation>
</author>
<author><name sortKey="Sonenberg, Nahum" sort="Sonenberg, Nahum" uniqKey="Sonenberg N" first="Nahum" last="Sonenberg">Nahum Sonenberg</name>
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<s3>CAN</s3>
<sZ>27 aut.</sZ>
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</inist:fA14>
<country>Canada</country>
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</placeName>
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</affiliation>
</author>
<author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name>
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</inist:fA14>
<country>Australie</country>
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</affiliation>
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<author><name sortKey="Zubair, Abba C" sort="Zubair, Abba C" uniqKey="Zubair A" first="Abba C." last="Zubair">Abba C. Zubair</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Laboratory Medicine and Pathology, Mayo Clinic</s1>
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<s3>USA</s3>
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</inist:fA14>
<country>États-Unis</country>
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</affiliation>
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<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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</inist:fA14>
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</affiliation>
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<author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name>
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</inist:fA14>
<country>Norvège</country>
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<country>France</country>
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<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1>
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<country>France</country>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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</inist:fA14>
<country>États-Unis</country>
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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1>
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<country>Canada</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease</title>
<author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1>
<s2>59000 Lille</s2>
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<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1>
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<country>France</country>
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</affiliation>
</author>
<author><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C." last="Dachsel">Justus C. Dachsel</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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</inist:fA14>
<country>États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name>
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</inist:fA14>
<country>Canada</country>
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</affiliation>
</author>
<author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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</inist:fA14>
<country>États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Lepretre">Frédéric Lepretre</name>
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<country>France</country>
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</affiliation>
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<country>France</country>
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<wicri:noRegion>Place de Verdun</wicri:noRegion>
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<country>France</country>
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<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name>
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<country>États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
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<author><name sortKey="Milnerwood, Austen J" sort="Milnerwood, Austen J" uniqKey="Milnerwood A" first="Austen J." last="Milnerwood">Austen J. Milnerwood</name>
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<country>Canada</country>
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</affiliation>
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<author><name sortKey="Tapia, Lucia" sort="Tapia, Lucia" uniqKey="Tapia L" first="Lucia" last="Tapia">Lucia Tapia</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1>
<s2>Vancouver, British Columbia V6T 2B5</s2>
<s3>CAN</s3>
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<country>Canada</country>
<wicri:noRegion>Vancouver, British Columbia V6T 2B5</wicri:noRegion>
</affiliation>
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<author><name sortKey="Song, Mee Sook" sort="Song, Mee Sook" uniqKey="Song M" first="Mee-Sook" last="Song">Mee-Sook Song</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1>
<s2>Vancouver, British Columbia V6T 2B5</s2>
<s3>CAN</s3>
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<country>Canada</country>
<wicri:noRegion>Vancouver, British Columbia V6T 2B5</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Le Rhun, Emilie" sort="Le Rhun, Emilie" uniqKey="Le Rhun E" first="Emilie" last="Le Rhun">Emilie Le Rhun</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1>
<s2>59000 Lille</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>16 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Department of Neurology and Movement Disorders</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1>
<s2>59000 Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1>
<s2>59045 Lille</s2>
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<country>France</country>
<wicri:noRegion>59045 Lille</wicri:noRegion>
<wicri:noRegion>Place de Verdun</wicri:noRegion>
<wicri:noRegion>59045 Lille</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1>
<s2>59000 Lille</s2>
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<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1>
<s2>59000 Lille</s2>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>16 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Department of Neurology and Movement Disorders</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1>
<s2>59000 Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<sZ>16 aut.</sZ>
<sZ>49 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1>
<s2>59045 Lille</s2>
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<country>France</country>
<wicri:noRegion>59045 Lille</wicri:noRegion>
<wicri:noRegion>Place de Verdun</wicri:noRegion>
<wicri:noRegion>59045 Lille</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1>
<s2>59000 Lille</s2>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1>
<s2>59000 Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1>
<s2>59045 Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59045 Lille</wicri:noRegion>
<wicri:noRegion>Place de Verdun</wicri:noRegion>
<wicri:noRegion>59045 Lille</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1>
<s2>59000 Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1>
<s2>59000 Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1>
<s2>59045 Lille</s2>
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<country>France</country>
<wicri:noRegion>59045 Lille</wicri:noRegion>
<wicri:noRegion>Place de Verdun</wicri:noRegion>
<wicri:noRegion>59045 Lille</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1>
<s2>59000 Lille</s2>
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<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences</s1>
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<s3>FRA</s3>
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<country>France</country>
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</affiliation>
</author>
<author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1>
<s2>59000 Lille</s2>
<s3>FRA</s3>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
<wicri:noRegion>Université Lille Nord de France</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1>
<s2>59045 Lille</s2>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59045 Lille</wicri:noRegion>
<wicri:noRegion>Place de Verdun</wicri:noRegion>
<wicri:noRegion>59045 Lille</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1>
<s2>59000 Lille</s2>
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<country>France</country>
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<wicri:noRegion>IFR114 IMPRT</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1>
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<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>16 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
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<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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</inist:fA14>
<country>États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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</affiliation>
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<author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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</affiliation>
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<author><name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L." last="Melrose">Heather L. Melrose</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>États-Unis</country>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<s3>CAN</s3>
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<country>Canada</country>
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<orgName type="university">Université McGill</orgName>
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</inist:fA14>
<country>Australie</country>
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<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Laboratory Medicine and Pathology, Mayo Clinic</s1>
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<s3>USA</s3>
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</inist:fA14>
<country>États-Unis</country>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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<country>Norvège</country>
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</inist:fA14>
<country>Pologne</country>
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<s3>POL</s3>
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<country>Pologne</country>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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</author>
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</author>
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<country>France</country>
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<orgName type="university" n="3">Université Lille 2</orgName>
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<country>France</country>
<wicri:noRegion>59045 Lille</wicri:noRegion>
<wicri:noRegion>Place de Verdun</wicri:noRegion>
<wicri:noRegion>59045 Lille</wicri:noRegion>
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<country>France</country>
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<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1>
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<country>France</country>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>Department of Neurology and Movement Disorders</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<placeName><settlement type="city">Lille</settlement>
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</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL 32224</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1>
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<s3>CAN</s3>
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<country>Canada</country>
<wicri:noRegion>Vancouver, British Columbia V6T 2B5</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Familial disease</term>
<term>Genetics</term>
<term>Human</term>
<term>Initiator</term>
<term>Mutation</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie familiale</term>
<term>Maladie de Parkinson</term>
<term>Amorceur</term>
<term>Mutation</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>Norvège</li>
<li>Pologne</li>
<li>États-Unis</li>
</country>
<region><li>Hauts-de-France</li>
<li>Nord-Pas-de-Calais</li>
<li>Québec</li>
<li>Trøndelag</li>
</region>
<settlement><li>Lille</li>
<li>Montréal</li>
<li>Trondheim</li>
</settlement>
<orgName><li>Université Lille 2</li>
<li>Université Lille Nord de France</li>
<li>Université McGill</li>
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<tree><noCountry><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
<name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<name sortKey="Frigerio, Roberta" sort="Frigerio, Roberta" uniqKey="Frigerio R" first="Roberta" last="Frigerio">Roberta Frigerio</name>
<name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name>
<name sortKey="Gosal, David" sort="Gosal, David" uniqKey="Gosal D" first="David" last="Gosal">David Gosal</name>
<name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
<name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name>
<name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name>
<name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<country name="France"><region name="Hauts-de-France"><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
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<name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
<name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
<name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name>
<name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name>
<name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name>
<name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
<name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
<name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
<name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
<name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name>
<name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name>
<name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name>
<name sortKey="Le Rhun, Emilie" sort="Le Rhun, Emilie" uniqKey="Le Rhun E" first="Emilie" last="Le Rhun">Emilie Le Rhun</name>
<name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Lepretre">Frédéric Lepretre</name>
<name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Lepretre">Frédéric Lepretre</name>
<name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Lepretre">Frédéric Lepretre</name>
<name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name>
<name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name>
<name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name>
<name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name>
<name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name>
<name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name>
<name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name>
<name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name>
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<country name="États-Unis"><noRegion><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C." last="Dachsel">Justus C. Dachsel</name>
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<name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name>
<name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name>
<name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name>
<name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
<name sortKey="Keeling, Brett H" sort="Keeling, Brett H" uniqKey="Keeling B" first="Brett H." last="Keeling">Brett H. Keeling</name>
<name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name>
<name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L." last="Melrose">Heather L. Melrose</name>
<name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<name sortKey="Williams, Lindsey" sort="Williams, Lindsey" uniqKey="Williams L" first="Lindsey" last="Williams">Lindsey Williams</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<name sortKey="Zubair, Abba C" sort="Zubair, Abba C" uniqKey="Zubair A" first="Abba C." last="Zubair">Abba C. Zubair</name>
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<country name="Canada"><noRegion><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name>
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<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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<name sortKey="Sonenberg, Nahum" sort="Sonenberg, Nahum" uniqKey="Sonenberg N" first="Nahum" last="Sonenberg">Nahum Sonenberg</name>
<name sortKey="Song, Mee Sook" sort="Song, Mee Sook" uniqKey="Song M" first="Mee-Sook" last="Song">Mee-Sook Song</name>
<name sortKey="Tapia, Lucia" sort="Tapia, Lucia" uniqKey="Tapia L" first="Lucia" last="Tapia">Lucia Tapia</name>
<name sortKey="Yanagiya, Akiko" sort="Yanagiya, Akiko" uniqKey="Yanagiya A" first="Akiko" last="Yanagiya">Akiko Yanagiya</name>
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<country name="Australie"><noRegion><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name>
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</country>
<country name="Norvège"><region name="Trøndelag"><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name>
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</country>
<country name="Pologne"><noRegion><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name>
</noRegion>
<name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name>
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</affiliations>
</record>

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   |wiki=    Wicri/Canada
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   |texte=   Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
}}

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	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

La maladie de Parkinson au Canada (serveur d'exploration)

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

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