T J Kwiatkowski
Affiliation: Massachusetts General Hospital
- Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosisT J Kwiatkowski
Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
Science 323:1205-8. 2009..Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders...
- Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohortN Ticozzi
Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA
Neurology 73:1180-5. 2009..This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS...
- New VAPB deletion variant and exclusion of VAPB mutations in familial ALSJ E Landers
Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA, USA
Neurology 70:1179-85. 2008..No additional mutations have been identified...