Article
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.
Archives of neurology - 1 Feb 2010
Groen Ewout J N, van Es Michael A, van Vught Paul W J, Spliet Wim G M, van Engelen-Lee Jooyeon, de Visser Marianne, Wokke John H J, Schelhaas Helenius J, Ophoff Roel A, Fumoto Katsumi, Pasterkamp R Jeroen, Dooijes Dennis, Cuppen Edwin, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
OBJECTIVES: To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics. DESIGN: FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS. The clinical characteristics of patients carrying FUS mutations were described in detail....
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