Linked Life Data

20176600

Source:http://linkedlifedata.com/resource/pubmed/id/20176600

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2010-6-28
pubmed:abstractText
Transgenic mouse models of human SOD1 mutations have opened up an area of intense investigation into the pathogenesis of familial and sporadic amyotrophic lateral sclerosis (ALS). However, the human phenotype of the G93A SOD1 mutation-the most commonly studied mutation in rodent models-has remained essentially unknown. This complicates the interpretation and transfer of results from animal models. Here clinical, electrophysiological and genealogical data are presented from a large German pedigree with a G93A mutation in the SOD1 gene. This pedigree shows a highly homogenous phenotype which closely resembles the typical phenotype of sporadic ALS, thus implicating comparable disease pathology of G93A SOD1 ALS and sporadic ALS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1468-330X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
81
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
764-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis.
pubmed:affiliation
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Hoppe-Seyler-Str 3, University of Tübingen, Tübingen 72076, Germany. matthis.synofzik@uni-tuebingen.de
pubmed:publicationType
Journal Article, Case Reports