FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

  title={FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.},
  author={Ewout J N Groen and Michael A van Es and Paul W. J. van Vught and Wim G. M. Spliet and Jooyeon van Engelen-Lee and Marianne de Visser and John H. J. Wokke and Helenius Jurgen Schelhaas and Roel A. Ophoff and Katsumi Fumoto and R Jeroen Pasterkamp and Dennis Dooijes and Edwin Cuppen and Jan H Veldink and Leonard H van den Berg},
  journal={Archives of neurology},
  volume={67 2},
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. SETTING Three university hospitals in the Netherlands (referral centers for… CONTINUE READING

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