DCTN1 p.K56R in progressive supranuclear palsy.
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Auteurs : Emil K. Gustavsson [Norvège] ; Joanne Trinh [Canada] ; Ilaria Guella [Canada] ; Chelsea Szu-Tu [Canada] ; Jaskaran Khinda [Canada] ; Chin-Hsien Lin [Taïwan] ; Ruey-Meei Wu [Taïwan] ; Jon Stoessl [Canada] ; Silke Appel-Cresswell [Canada] ; Martin Mckeown [Canada] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; Maria Skaalum Petersen ; Beom S. Jeon [Corée du Sud] ; Jan O. Aasly [Norvège] ; Matthew J. Farrer [Canada]Source :
- Parkinsonism & related disorders [ 1873-5126 ] ; 2016.
Abstract
Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation.
DOI: 10.1016/j.parkreldis.2016.04.025
PubMed: 27132499
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Maria Skaalum Petersen<affiliation><nlm:affiliation>Department of Occupational Medicine and Public Health, The Faroese Hospital System, Torshavn, Faroe Islands.</nlm:affiliation><wicri:noCountry code="subField">Faroe Islands</wicri:noCountry></affiliation>Le document en format XML
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Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" 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University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK</wicri:regionArea><wicri:noRegion>SK</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. 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Jeon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul, South Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. 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Electronic address: mfarrer@can.ubc.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27132499</idno><idno type="pmid">27132499</idno><idno type="doi">10.1016/j.parkreldis.2016.04.025</idno><idno type="wicri:Area/PubMed/Corpus">000214</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000214</idno><idno type="wicri:Area/PubMed/Curation">000214</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000214</idno><idno type="wicri:Area/PubMed/Checkpoint">000214</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000214</idno><idno type="wicri:Area/Ncbi/Merge">001F61</idno><idno type="wicri:Area/Ncbi/Curation">001F61</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">DCTN1 p.K56R in progressive supranuclear palsy.</title><author><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Khinda, Jaskaran" sort="Khinda, Jaskaran" uniqKey="Khinda J" first="Jaskaran" last="Khinda">Jaskaran Khinda</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</nlm:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</nlm:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, Jon" sort="Stoessl, Jon" uniqKey="Stoessl J" first="Jon" last="Stoessl">Jon Stoessl</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK</wicri:regionArea><wicri:noRegion>SK</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK</wicri:regionArea><wicri:noRegion>SK</wicri:noRegion></affiliation></author><author><name sortKey="Petersen, Maria Skaalum" sort="Petersen, Maria Skaalum" uniqKey="Petersen M" first="Maria Skaalum" last="Petersen">Maria Skaalum Petersen</name><affiliation><nlm:affiliation>Department of Occupational Medicine and Public Health, The Faroese Hospital System, Torshavn, Faroe Islands.</nlm:affiliation><wicri:noCountry code="subField">Faroe Islands</wicri:noCountry></affiliation></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul, South Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></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"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: mfarrer@can.ubc.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="eISSN">1873-5126</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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