|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0009968,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0038838,
umls-concept:C0043481,
umls-concept:C0205210,
umls-concept:C0205314,
umls-concept:C0547040,
umls-concept:C0679622,
umls-concept:C1862939,
umls-concept:C2348519,
umls-concept:C2678064
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2001-5-10
|
|
pubmed:abstractText |
Mutations in the SOD1 gene are responsible for approximately 25% of all familial amyotrophic lateral sclerosis (ALS) cases. However, the correlation between the clinical and pathological features and the various SOD1 gene mutations has not been well characterized.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0003-9942
|
|
pubmed:author |
pubmed-author:HaraguchiTT,
pubmed-author:HayabaraTT,
pubmed-author:IharaYY,
pubmed-author:IshizuHH,
pubmed-author:KurodaSS,
pubmed-author:NambaRR,
pubmed-author:NishiboriMM,
pubmed-author:NishinakaTT,
pubmed-author:NobukuniKK,
pubmed-author:TakehisaYY,
pubmed-author:TanakaYY,
pubmed-author:TeradaSS,
pubmed-author:UjikeHH,
pubmed-author:YasudaTT
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
58
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
736-40
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:11346368-Adult,
pubmed-meshheading:11346368-Aged,
pubmed-meshheading:11346368-Amino Acid Substitution,
pubmed-meshheading:11346368-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:11346368-Brain,
pubmed-meshheading:11346368-Female,
pubmed-meshheading:11346368-Humans,
pubmed-meshheading:11346368-Hyalin,
pubmed-meshheading:11346368-Inclusion Bodies,
pubmed-meshheading:11346368-Lewy Bodies,
pubmed-meshheading:11346368-Male,
pubmed-meshheading:11346368-Middle Aged,
pubmed-meshheading:11346368-Point Mutation,
pubmed-meshheading:11346368-Superoxide Dismutase
|
|
pubmed:year |
2001
|
|
pubmed:articleTitle |
Familial amyotrophic lateral sclerosis with a novel Leu126Ser mutation in the copper/zinc superoxide dismutase gene showing mild clinical features and lewy body-like hyaline inclusions.
|
|
pubmed:affiliation |
Department of Neuropsychiatry, Okayama University Medical School, 2-5-1 Shikata-cho, Okayama 700-8558, Japan.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
