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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2003-7-17
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pubmed:abstractText |
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in approximately 10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for approximately 25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-11015796,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-11586297,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-11586298,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-11706389,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-11717358,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-11818550,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-12627231,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-2929597,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-3957003,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-6587361,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-7605627,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-7807156,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-7846037,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-8209258,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-8446170,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12858291-8651310
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0002-9297
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pubmed:author |
pubmed-author:BrownRobert HRHJr,
pubmed-author:ChinWendyW,
pubmed-author:GannAmityA,
pubmed-author:GeniseHilaryH,
pubmed-author:GorensteinJulieJ,
pubmed-author:HainesJonathan LJL,
pubmed-author:HorvitzH RobertHR,
pubmed-author:HoslerBetsy ABA,
pubmed-author:HuangMichaelM,
pubmed-author:McKenna-YasekDianeD,
pubmed-author:Pericak-VanceMargaretM,
pubmed-author:SalinoRR,
pubmed-author:SappPeter CPC,
pubmed-author:SchefflerMegM,
pubmed-author:SiddiqueTeepuT,
pubmed-author:ValeskyMarianneM
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pubmed:issnType |
Print
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
397-403
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:12858291-Adult,
pubmed-meshheading:12858291-Aged,
pubmed-meshheading:12858291-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:12858291-Chromosome Mapping,
pubmed-meshheading:12858291-Chromosomes, Human, Pair 16,
pubmed-meshheading:12858291-Chromosomes, Human, Pair 20,
pubmed-meshheading:12858291-Female,
pubmed-meshheading:12858291-Genes, Dominant,
pubmed-meshheading:12858291-Haplotypes,
pubmed-meshheading:12858291-Humans,
pubmed-meshheading:12858291-Lod Score,
pubmed-meshheading:12858291-Male,
pubmed-meshheading:12858291-Middle Aged,
pubmed-meshheading:12858291-Pedigree,
pubmed-meshheading:12858291-Superoxide Dismutase
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pubmed:year |
2003
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pubmed:articleTitle |
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
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pubmed:affiliation |
Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA 02129, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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