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FUS mutations in sporadic amyotrophic lateral sclerosis

FUS mutations in sporadic amyotrophic lateral sclerosis,10.1016/j.neurobiolaging.2009.12.020,Neurobiology of Aging,Shiao-Lin Lai,Yevgeniya Abramzon,Je

FUS mutations in sporadic amyotrophic lateral sclerosis   (Citations: 6)
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Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.
Journal: Neurobiology of Aging - NEUROBIOL AGING , vol. 32, no. 3, pp. 550.e1-550.e4, 2011
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    • ...although some specific missense mutations carry a consistently worse (ie, A4V, G41S) or better (ie, H46R, G93C) prognosis. Patients with FUS mutations are also quite heterogeneous but some mutations seem to carry more defined phenotypes: the R514S and R521C missense mutations are characterised by a predominantly proximal and axial phenotype ...

    Adriano Chiòet al. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a populatio...

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