Glucocerebrosidase mutations in diffuse Lewy body disease✩
Identifieur interne : 000D61 ( Ncbi/Merge ); précédent : 000D60; suivant : 000D62Glucocerebrosidase mutations in diffuse Lewy body disease✩
Auteurs : Kenya Nishioka [États-Unis] ; Owen A. Ross [États-Unis] ; Carles Vilari O-Güell [États-Unis, Canada] ; Stephanie A. Cobb [États-Unis] ; Jennifer M. Kachergus [États-Unis] ; David M. A. Mann [Royaume-Uni] ; Julie Snowden [Royaume-Uni] ; Anna M. T. Richardson [Royaume-Uni] ; David Neary [Royaume-Uni] ; Christopher A. Robinson [Canada] ; Alex Rajput [Canada] ; Spiridon Papapetropoulos [États-Unis] ; Deborah C. Mash [États-Unis] ; Rajesh Pahwa [États-Unis] ; Kelly E. Lyons [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Dennis W. Dickson [États-Unis] ; Matthew J. Farrer [États-Unis, Canada]Source :
- Parkinsonism & related disorders [ 1353-8020 ] ; 2011.
Abstract
Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (
Url:
DOI: 10.1016/j.parkreldis.2010.09.009
PubMed: 20971030
PubMed Central: 4721925
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000893
- to stream Pmc, to step Curation: 000893
- to stream Pmc, to step Checkpoint: 000947
Links to Exploration step
PMC:4721925Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Glucocerebrosidase mutations in diffuse Lewy body disease<sup><xref ref-type="fn" rid="FN2">✩</xref></sup></title><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</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"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></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"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Richardson, Anna M T" sort="Richardson, Anna M T" uniqKey="Richardson A" first="Anna M. T." last="Richardson">Anna M. T. Richardson</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Neary, David" sort="Neary, David" uniqKey="Neary D" first="David" last="Neary">David Neary</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name><affiliation wicri:level="1"><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</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:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A4">Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name><affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea><wicri:noRegion>KS</wicri:noRegion></affiliation></author><author><name sortKey="Lyons, Kelly E" sort="Lyons, Kelly E" uniqKey="Lyons K" first="Kelly E." last="Lyons">Kelly E. Lyons</name><affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea><wicri:noRegion>KS</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></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:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20971030</idno><idno type="pmc">4721925</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721925</idno><idno type="RBID">PMC:4721925</idno><idno type="doi">10.1016/j.parkreldis.2010.09.009</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000893</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000893</idno><idno type="wicri:Area/Pmc/Curation">000893</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000893</idno><idno type="wicri:Area/Pmc/Checkpoint">000947</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000947</idno><idno type="wicri:Area/Ncbi/Merge">000D61</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Glucocerebrosidase mutations in diffuse Lewy body disease<sup><xref ref-type="fn" rid="FN2">✩</xref></sup></title><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</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"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></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"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Richardson, Anna M T" sort="Richardson, Anna M T" uniqKey="Richardson A" first="Anna M. T." last="Richardson">Anna M. T. Richardson</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Neary, David" sort="Neary, David" uniqKey="Neary D" first="David" last="Neary">David Neary</name><affiliation wicri:level="4"><nlm:aff id="A2">Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD</wicri:regionArea><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name><affiliation wicri:level="1"><nlm:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</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:aff id="A3">Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A4">Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name><affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea><wicri:noRegion>KS</wicri:noRegion></affiliation></author><author><name sortKey="Lyons, Kelly E" sort="Lyons, Kelly E" uniqKey="Lyons K" first="Kelly E." last="Lyons">Kelly E. Lyons</name><affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kansas Medical Center, Kansas City, KS</wicri:regionArea><wicri:noRegion>KS</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></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:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><wicri:noRegion>FL</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A8">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="ISSN">1353-8020</idno><idno type="eISSN">1873-5126</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (<italic>GBA</italic>) are a risk factor for Parkinson’s disease and Lewy body disorders. In the present study, we have identified <italic>GBA</italic> mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that <italic>GBA</italic> mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson’s disease.</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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9513583</journal-id><journal-id journal-id-type="pubmed-jr-id">21522</journal-id><journal-id journal-id-type="nlm-ta">Parkinsonism Relat Disord</journal-id><journal-id journal-id-type="iso-abbrev">Parkinsonism Relat. Disord.</journal-id><journal-title-group><journal-title>Parkinsonism & related disorders</journal-title></journal-title-group><issn pub-type="ppub">1353-8020</issn><issn pub-type="epub">1873-5126</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20971030</article-id><article-id pub-id-type="pmc">4721925</article-id><article-id pub-id-type="doi">10.1016/j.parkreldis.2010.09.009</article-id><article-id pub-id-type="manuscript">NIHMS751643</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Glucocerebrosidase mutations in diffuse Lewy body disease<sup><xref ref-type="fn" rid="FN2">✩</xref></sup></article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Nishioka</surname><given-names>Kenya</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Vilariño-Güell</surname><given-names>Carles</given-names></name><xref ref-type="aff" rid="A1">a</xref><xref ref-type="aff" rid="A8">h</xref></contrib><contrib contrib-type="author"><name><surname>Cobb</surname><given-names>Stephanie A.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Kachergus</surname><given-names>Jennifer M.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>David M.A.</given-names></name><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Snowden</surname><given-names>Julie</given-names></name><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Richardson</surname><given-names>Anna M.T.</given-names></name><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Neary</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Robinson</surname><given-names>Christopher A.</given-names></name><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Rajput</surname><given-names>Alex</given-names></name><xref ref-type="aff" rid="A3">c</xref><xref ref-type="aff" rid="A4">d</xref></contrib><contrib contrib-type="author"><name><surname>Papapetropoulos</surname><given-names>Spiridon</given-names></name><xref ref-type="aff" rid="A5">e</xref></contrib><contrib contrib-type="author"><name><surname>Mash</surname><given-names>Deborah C.</given-names></name><xref ref-type="aff" rid="A5">e</xref></contrib><contrib contrib-type="author"><name><surname>Pahwa</surname><given-names>Rajesh</given-names></name><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>Lyons</surname><given-names>Kelly E.</given-names></name><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><xref ref-type="aff" rid="A7">g</xref></contrib><contrib contrib-type="author"><name><surname>Dickson</surname><given-names>Dennis W.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><xref ref-type="aff" rid="A1">a</xref><xref ref-type="aff" rid="A8">h</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib></contrib-group><aff id="A1"><label>a</label>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</aff><aff id="A2"><label>b</label>Neurodegeneration and Mental Health Research Group, School of Community Based Medicine, University of Manchester, Hope Hospital, Salford, M6 8HD, UK</aff><aff id="A3"><label>c</label>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada</aff><aff id="A4"><label>d</label>Saskatchewan Center for Parkinson’s disease and Movement Disorders, Royal University Hospital, Saskatoon, Saskatchewan, Canada</aff><aff id="A5"><label>e</label>Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL, USA</aff><aff id="A6"><label>f</label>Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA</aff><aff id="A7"><label>g</label>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</aff><aff id="A8"><label>h</label>Department of Medical Genetics, University of British Columbia, Vancouver, Canada</aff><author-notes><corresp id="FN1"><label>*</label>Corresponding author. Department of Medical Genetics, University of British Columbia, 950 West 28th Ave., Vancouver, BC, Canada V5Z 4H4. Tel.: +1 604 875 3859; fax: 1 604 875 3840. <email>mfarrer@can.ubc.ca</email> (M.J. Farrer)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>16</day><month>1</month><year>2016</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>21</day><month>1</month><year>2016</year></pub-date><volume>17</volume><issue>1</issue><fpage>55</fpage><lpage>57</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.parkreldis.2010.09.009</pmc-comment>
<abstract><p id="P1">Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (<italic>GBA</italic>) are a risk factor for Parkinson’s disease and Lewy body disorders. In the present study, we have identified <italic>GBA</italic> mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that <italic>GBA</italic> mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson’s disease.</p></abstract><kwd-group><kwd>DLBD</kwd><kwd>Gaucher</kwd><kwd>disease</kwd><kwd>GBA</kwd><kwd>genetics</kwd></kwd-group></article-meta></front></pmc><affiliations><list><country><li>Canada</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Manchester</li></region><settlement><li>Manchester</li></settlement><orgName><li>Université de Manchester</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name></noRegion><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="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name><name sortKey="Lyons, Kelly E" sort="Lyons, Kelly E" uniqKey="Lyons K" first="Kelly E." last="Lyons">Kelly E. Lyons</name><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></country><country name="Canada"><noRegion><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></noRegion><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name></region><name sortKey="Neary, David" sort="Neary, David" uniqKey="Neary D" first="David" last="Neary">David Neary</name><name sortKey="Richardson, Anna M T" sort="Richardson, Anna M T" uniqKey="Richardson A" first="Anna M. T." last="Richardson">Anna M. T. Richardson</name><name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000D61 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 000D61 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Ncbi
|étape= Merge
|type= RBID
|clé= PMC:4721925
|texte= Glucocerebrosidase mutations in diffuse Lewy body disease✩
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:20971030" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |