T J Kwiatkowski

Summary

Affiliation: Massachusetts General Hospital
Country: USA

Publications

  1. doi Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    T J Kwiatkowski
    Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
    Science 323:1205-8. 2009
  2. pmc Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
    N Ticozzi
    Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA
    Neurology 73:1180-5. 2009
  3. doi New VAPB deletion variant and exclusion of VAPB mutations in familial ALS
    J E Landers
    Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA, USA
    Neurology 70:1179-85. 2008

Collaborators

Detail Information

Publications3

  1. doi Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    T 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...
  2. pmc Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
    N 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...
  3. doi New VAPB deletion variant and exclusion of VAPB mutations in familial ALS
    J 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...