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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Girard, Simon L" sort="Girard, Simon L" uniqKey="Girard S" first="Simon L." last="Girard">Simon L. Girard</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Catoire, Helene" sort="Catoire, Helene" uniqKey="Catoire H" first="Hélène" last="Catoire">Hélène Catoire</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Bourassa, Cynthia V" sort="Bourassa, Cynthia V" uniqKey="Bourassa C" first="Cynthia V." last="Bourassa">Cynthia V. Bourassa</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Belzil, Veronique V" sort="Belzil, Veronique V" uniqKey="Belzil V" first="Véronique V." last="Belzil">Véronique V. Belzil</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Hince, Pascale" sort="Hince, Pascale" uniqKey="Hince P" first="Pascale" last="Hince">Pascale Hince</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Levert, Annie" sort="Levert, Annie" uniqKey="Levert A" first="Annie" last="Levert">Annie Levert</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></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><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Spiegelman, Dan" sort="Spiegelman, Dan" uniqKey="Spiegelman D" first="Dan" last="Spiegelman">Dan Spiegelman</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Diab, Sabrina" sort="Diab, Sabrina" uniqKey="Diab S" first="Sabrina" last="Diab">Sabrina Diab</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Szuto, Anna" sort="Szuto, Anna" uniqKey="Szuto A" first="Anna" last="Szuto">Anna Szuto</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Fournier, Helene" sort="Fournier, Helene" uniqKey="Fournier H" first="Hélène" last="Fournier">Hélène Fournier</name><affiliation><nlm:aff id="aff3">Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</nlm:aff></affiliation></author><author><name sortKey="Raelson, John" sort="Raelson, John" uniqKey="Raelson J" first="John" last="Raelson">John Raelson</name><affiliation><nlm:aff id="aff3">Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</nlm:aff></affiliation></author><author><name sortKey="Belouchi, Majid" sort="Belouchi, Majid" uniqKey="Belouchi M" first="Majid" last="Belouchi">Majid Belouchi</name><affiliation><nlm:aff id="aff3">Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</nlm:aff></affiliation></author><author><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Cossette, Patrick" sort="Cossette, Patrick" uniqKey="Cossette P" first="Patrick" last="Cossette">Patrick Cossette</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name><affiliation><nlm:aff id="aff5">Faculty of Medicine, Université Laval, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec-Enfant-Jésus, Québec City, QC G1J 1Z4, Canada</nlm:aff></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff></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><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC H3T 1C5, Canada</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22863194</idno><idno type="pmc">3415547</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415547</idno><idno type="RBID">PMC:3415547</idno><idno type="doi">10.1016/j.ajhg.2012.07.002</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000513</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000513</idno></publicationStmt><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><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Girard, Simon L" sort="Girard, Simon L" uniqKey="Girard S" first="Simon L." last="Girard">Simon L. Girard</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Catoire, Helene" sort="Catoire, Helene" uniqKey="Catoire H" first="Hélène" last="Catoire">Hélène Catoire</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Bourassa, Cynthia V" sort="Bourassa, Cynthia V" uniqKey="Bourassa C" first="Cynthia V." last="Bourassa">Cynthia V. Bourassa</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Belzil, Veronique V" sort="Belzil, Veronique V" uniqKey="Belzil V" first="Véronique V." last="Belzil">Véronique V. Belzil</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Hince, Pascale" sort="Hince, Pascale" uniqKey="Hince P" first="Pascale" last="Hince">Pascale Hince</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Levert, Annie" sort="Levert, Annie" uniqKey="Levert A" first="Annie" last="Levert">Annie Levert</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></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><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Spiegelman, Dan" sort="Spiegelman, Dan" uniqKey="Spiegelman D" first="Dan" last="Spiegelman">Dan Spiegelman</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Diab, Sabrina" sort="Diab, Sabrina" uniqKey="Diab S" first="Sabrina" last="Diab">Sabrina Diab</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Szuto, Anna" sort="Szuto, Anna" uniqKey="Szuto A" first="Anna" last="Szuto">Anna Szuto</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Fournier, Helene" sort="Fournier, Helene" uniqKey="Fournier H" first="Hélène" last="Fournier">Hélène Fournier</name><affiliation><nlm:aff id="aff3">Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</nlm:aff></affiliation></author><author><name sortKey="Raelson, John" sort="Raelson, John" uniqKey="Raelson J" first="John" last="Raelson">John Raelson</name><affiliation><nlm:aff id="aff3">Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</nlm:aff></affiliation></author><author><name sortKey="Belouchi, Majid" sort="Belouchi, Majid" uniqKey="Belouchi M" first="Majid" last="Belouchi">Majid Belouchi</name><affiliation><nlm:aff id="aff3">Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</nlm:aff></affiliation></author><author><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Cossette, Patrick" sort="Cossette, Patrick" uniqKey="Cossette P" first="Patrick" last="Cossette">Patrick Cossette</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name><affiliation><nlm:aff id="aff5">Faculty of Medicine, Université Laval, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec-Enfant-Jésus, Québec City, QC G1J 1Z4, Canada</nlm:aff></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name><affiliation><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC H2L 2W5, Canada</nlm:aff></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><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></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC H3T 1C5, Canada</nlm:aff></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><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22863194</article-id><article-id pub-id-type="pmc">3415547</article-id><article-id pub-id-type="publisher-id">AJHG1201</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2012.07.002</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Exome Sequencing Identifies <italic>FUS</italic> Mutations as a Cause of Essential Tremor</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Merner</surname><given-names>Nancy D.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Girard</surname><given-names>Simon L.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Catoire</surname><given-names>Hélène</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Bourassa</surname><given-names>Cynthia V.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Belzil</surname><given-names>Véronique V.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Rivière</surname><given-names>Jean-Baptiste</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Hince</surname><given-names>Pascale</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Levert</surname><given-names>Annie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Dionne-Laporte</surname><given-names>Alexandre</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Spiegelman</surname><given-names>Dan</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Noreau</surname><given-names>Anne</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Diab</surname><given-names>Sabrina</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Szuto</surname><given-names>Anna</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Fournier</surname><given-names>Hélène</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Raelson</surname><given-names>John</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Belouchi</surname><given-names>Majid</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Panisset</surname><given-names>Michel</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Cossette</surname><given-names>Patrick</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Dupré</surname><given-names>Nicolas</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Bernard</surname><given-names>Geneviève</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Chouinard</surname><given-names>Sylvain</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Dion</surname><given-names>Patrick A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Rouleau</surname><given-names>Guy A.</given-names></name><email>guy.rouleau@umontreal.ca</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff7" ref-type="aff">7</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Centre of Excellence in Neurosciences, Centre Hospitalier de l’Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada</aff><aff id="aff2"><label>2</label>Department of Medicine, Université de Montréal, Montréal, QC H2L 4M1, Canada</aff><aff id="aff3"><label>3</label>Genizon BioSciences, Saint-Laurent, QC H4T 1N3, Canada</aff><aff id="aff4"><label>4</label>Centre Hospitalier de l’Université de Montréal, Université de Montréal, Montréal, QC H2L 4M1, Canada</aff><aff id="aff5"><label>5</label>Faculty of Medicine, Université Laval, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec-Enfant-Jésus, Québec City, QC G1J 1Z4, Canada</aff><aff id="aff6"><label>6</label>Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC H2L 2W5, Canada</aff><aff id="aff7"><label>7</label>Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC H3T 1C5, Canada</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>guy.rouleau@umontreal.ca</email></corresp></author-notes><pub-date pub-type="ppub"><day>10</day><month>8</month><year>2012</year></pub-date><volume>91</volume><issue>2</issue><fpage>313</fpage><lpage>319</lpage><history><date date-type="received"><day>6</day><month>2</month><year>2012</year></date><date date-type="rev-recd"><day>23</day><month>5</month><year>2012</year></date><date date-type="accepted"><day>6</day><month>7</month><year>2012</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><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></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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