Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
Identifieur interne : 001236 ( Main/Exploration ); précédent : 001235; suivant : 001237Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
Auteurs : Nancy D. Merner [Canada] ; Simon L. Girard [Canada] ; Hélène Catoire [Canada] ; Cynthia V. Bourassa [Canada] ; Véronique V. Belzil [Canada] ; Jean-Baptiste Rivière [Canada] ; Pascale Hince [Canada] ; Annie Levert [Canada] ; Alexandre Dionne-Laporte [Canada] ; Dan Spiegelman [Canada] ; Anne Noreau [Canada] ; Sabrina Diab [Canada] ; Anna Szuto [Canada] ; Hélène Fournier [Canada] ; John Raelson [Canada] ; Majid Belouchi [Canada] ; Michel Panisset [Canada] ; Patrick Cossette [Canada] ; Nicolas Dupré [Canada] ; Geneviève Bernard [Canada] ; Sylvain Chouinard [Canada] ; Patrick A. Dion [Canada] ; Guy A. Rouleau [Canada]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
Essential tremor (ET) is a common neurodegenerative disorder that is characterized by a postural or motion tremor. Despite a strong genetic basis, a gene with rare pathogenic mutations that cause ET has not yet been reported. We used exome sequencing to implement a simple approach to control for misdiagnosis of ET, as well as phenocopies involving sporadic and senile ET cases. We studied a large ET-affected family and identified a
Url:
DOI: 10.1016/j.ajhg.2012.07.002
PubMed: 22863194
PubMed Central: 3415547
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000513
- to stream Pmc, to step Curation: 000513
- to stream Pmc, to step Checkpoint: 000833
- to stream Ncbi, to step Merge: 001215
- to stream Ncbi, to step Curation: 001215
- to stream Ncbi, to step Checkpoint: 001215
- to stream Main, to step Merge: 001262
- to stream Main, to step Curation: 001236
Le document en format XML
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Mutations as a Cause of Essential Tremor</title>
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<author><name sortKey="Szuto, Anna" sort="Szuto, Anna" uniqKey="Szuto A" first="Anna" last="Szuto">Anna Szuto</name>
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<author><name sortKey="Fournier, Helene" sort="Fournier, Helene" uniqKey="Fournier H" first="Hélène" last="Fournier">Hélène Fournier</name>
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<author><name sortKey="Raelson, John" sort="Raelson, John" uniqKey="Raelson J" first="John" last="Raelson">John Raelson</name>
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<author><name sortKey="Belouchi, Majid" sort="Belouchi, Majid" uniqKey="Belouchi M" first="Majid" last="Belouchi">Majid Belouchi</name>
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<author><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name>
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<author><name sortKey="Cossette, Patrick" sort="Cossette, Patrick" uniqKey="Cossette P" first="Patrick" last="Cossette">Patrick Cossette</name>
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<author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name>
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<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
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<author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name>
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<author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Exome Sequencing Identifies <italic>FUS</italic>
Mutations as a Cause of Essential Tremor</title>
<author><name sortKey="Merner, Nancy D" sort="Merner, Nancy D" uniqKey="Merner N" first="Nancy D." last="Merner">Nancy D. Merner</name>
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<country xml:lang="fr">Canada</country>
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<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
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<author><name sortKey="Girard, Simon L" sort="Girard, Simon L" uniqKey="Girard S" first="Simon L." last="Girard">Simon L. Girard</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Catoire, Helene" sort="Catoire, Helene" uniqKey="Catoire H" first="Hélène" last="Catoire">Hélène Catoire</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Bourassa, Cynthia V" sort="Bourassa, Cynthia V" uniqKey="Bourassa C" first="Cynthia V." last="Bourassa">Cynthia V. Bourassa</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Belzil, Veronique V" sort="Belzil, Veronique V" uniqKey="Belzil V" first="Véronique V." last="Belzil">Véronique V. Belzil</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hince, Pascale" sort="Hince, Pascale" uniqKey="Hince P" first="Pascale" last="Hince">Pascale Hince</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Levert, Annie" sort="Levert, Annie" uniqKey="Levert A" first="Annie" last="Levert">Annie Levert</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Spiegelman, Dan" sort="Spiegelman, Dan" uniqKey="Spiegelman D" first="Dan" last="Spiegelman">Dan Spiegelman</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Diab, Sabrina" sort="Diab, Sabrina" uniqKey="Diab S" first="Sabrina" last="Diab">Sabrina Diab</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Szuto, Anna" sort="Szuto, Anna" uniqKey="Szuto A" first="Anna" last="Szuto">Anna Szuto</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fournier, Helene" sort="Fournier, Helene" uniqKey="Fournier H" first="Hélène" last="Fournier">Hélène Fournier</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genizon BioSciences, Saint-Laurent, QC H4T 1N3</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Raelson, John" sort="Raelson, John" uniqKey="Raelson J" first="John" last="Raelson">John Raelson</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genizon BioSciences, Saint-Laurent, QC H4T 1N3</wicri:regionArea>
<wicri:noRegion>QC H4T 1N3</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Belouchi, Majid" sort="Belouchi, Majid" uniqKey="Belouchi M" first="Majid" last="Belouchi">Majid Belouchi</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genizon BioSciences, Saint-Laurent, QC H4T 1N3</wicri:regionArea>
<wicri:noRegion>QC H4T 1N3</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cossette, Patrick" sort="Cossette, Patrick" uniqKey="Cossette P" first="Patrick" last="Cossette">Patrick Cossette</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Faculty of Medicine, Université Laval, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec-Enfant-Jésus, Québec City, QC G1J 1Z4</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name>
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<country xml:lang="fr">Canada</country>
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<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5</wicri:regionArea>
<wicri:noRegion>QC H2L 2W5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1</wicri:regionArea>
<wicri:noRegion>QC H2L 4M1</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7">Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC H3T 1C5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC H3T 1C5</wicri:regionArea>
<wicri:noRegion>QC H3T 1C5</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Essential tremor (ET) is a common neurodegenerative disorder that is characterized by a postural or motion tremor. Despite a strong genetic basis, a gene with rare pathogenic mutations that cause ET has not yet been reported. We used exome sequencing to implement a simple approach to control for misdiagnosis of ET, as well as phenocopies involving sporadic and senile ET cases. We studied a large ET-affected family and identified a <italic>FUS</italic>
p.Gln290<sup>∗</sup>
mutation as the cause of ET in this family. Further screening of 270 ET cases identified two additional rare missense <italic>FUS</italic>
variants. Functional considerations suggest that the pathogenic effects of ET-specific <italic>FUS</italic>
mutations are different from the effects observed when <italic>FUS</italic>
is mutated in amyotrophic lateral sclerosis cases; we have shown that the ET <italic>FUS</italic>
nonsense mutation is degraded by the nonsense-mediated-decay pathway, whereas amyotrophic lateral sclerosis <italic>FUS</italic>
mutant transcripts are not.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
</country>
</list>
<tree><country name="Canada"><noRegion><name sortKey="Merner, Nancy D" sort="Merner, Nancy D" uniqKey="Merner N" first="Nancy D." last="Merner">Nancy D. Merner</name>
</noRegion>
<name sortKey="Belouchi, Majid" sort="Belouchi, Majid" uniqKey="Belouchi M" first="Majid" last="Belouchi">Majid Belouchi</name>
<name sortKey="Belzil, Veronique V" sort="Belzil, Veronique V" uniqKey="Belzil V" first="Véronique V." last="Belzil">Véronique V. Belzil</name>
<name sortKey="Belzil, Veronique V" sort="Belzil, Veronique V" uniqKey="Belzil V" first="Véronique V." last="Belzil">Véronique V. Belzil</name>
<name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
<name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
<name sortKey="Bourassa, Cynthia V" sort="Bourassa, Cynthia V" uniqKey="Bourassa C" first="Cynthia V." last="Bourassa">Cynthia V. Bourassa</name>
<name sortKey="Bourassa, Cynthia V" sort="Bourassa, Cynthia V" uniqKey="Bourassa C" first="Cynthia V." last="Bourassa">Cynthia V. Bourassa</name>
<name sortKey="Catoire, Helene" sort="Catoire, Helene" uniqKey="Catoire H" first="Hélène" last="Catoire">Hélène Catoire</name>
<name sortKey="Catoire, Helene" sort="Catoire, Helene" uniqKey="Catoire H" first="Hélène" last="Catoire">Hélène Catoire</name>
<name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name>
<name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name>
<name sortKey="Cossette, Patrick" sort="Cossette, Patrick" uniqKey="Cossette P" first="Patrick" last="Cossette">Patrick Cossette</name>
<name sortKey="Cossette, Patrick" sort="Cossette, Patrick" uniqKey="Cossette P" first="Patrick" last="Cossette">Patrick Cossette</name>
<name sortKey="Diab, Sabrina" sort="Diab, Sabrina" uniqKey="Diab S" first="Sabrina" last="Diab">Sabrina Diab</name>
<name sortKey="Diab, Sabrina" sort="Diab, Sabrina" uniqKey="Diab S" first="Sabrina" last="Diab">Sabrina Diab</name>
<name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name>
<name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name>
<name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name>
<name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name>
<name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name>
<name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name>
<name sortKey="Fournier, Helene" sort="Fournier, Helene" uniqKey="Fournier H" first="Hélène" last="Fournier">Hélène Fournier</name>
<name sortKey="Girard, Simon L" sort="Girard, Simon L" uniqKey="Girard S" first="Simon L." last="Girard">Simon L. Girard</name>
<name sortKey="Girard, Simon L" sort="Girard, Simon L" uniqKey="Girard S" first="Simon L." last="Girard">Simon L. Girard</name>
<name sortKey="Hince, Pascale" sort="Hince, Pascale" uniqKey="Hince P" first="Pascale" last="Hince">Pascale Hince</name>
<name sortKey="Hince, Pascale" sort="Hince, Pascale" uniqKey="Hince P" first="Pascale" last="Hince">Pascale Hince</name>
<name sortKey="Levert, Annie" sort="Levert, Annie" uniqKey="Levert A" first="Annie" last="Levert">Annie Levert</name>
<name sortKey="Levert, Annie" sort="Levert, Annie" uniqKey="Levert A" first="Annie" last="Levert">Annie Levert</name>
<name sortKey="Merner, Nancy D" sort="Merner, Nancy D" uniqKey="Merner N" first="Nancy D." last="Merner">Nancy D. Merner</name>
<name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name>
<name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name>
<name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name>
<name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name>
<name sortKey="Raelson, John" sort="Raelson, John" uniqKey="Raelson J" first="John" last="Raelson">John Raelson</name>
<name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name>
<name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Spiegelman, Dan" sort="Spiegelman, Dan" uniqKey="Spiegelman D" first="Dan" last="Spiegelman">Dan Spiegelman</name>
<name sortKey="Spiegelman, Dan" sort="Spiegelman, Dan" uniqKey="Spiegelman D" first="Dan" last="Spiegelman">Dan Spiegelman</name>
<name sortKey="Szuto, Anna" sort="Szuto, Anna" uniqKey="Szuto A" first="Anna" last="Szuto">Anna Szuto</name>
<name sortKey="Szuto, Anna" sort="Szuto, Anna" uniqKey="Szuto A" first="Anna" last="Szuto">Anna Szuto</name>
</country>
</tree>
</affiliations>
</record>
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