Thomas J. Kwiatkowski

机构：Massachusetts General Hospital

发表论文 15 篇 · 总被引 5864 次 · h-index 13

代表论文

• Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis (2009 · Science · 被引 2598)
• Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 (1993 · Nature Genetics · 被引 1663)
• Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules (2010 · Human Molecular Genetics · 被引 531)
• Identification and characterization of the gene causing type 1 spinocerebellar ataxia (1994 · Nature Genetics · 被引 378)
• Reduced expression of the Kinesin-Associated Protein 3 ( KIFAP3 ) gene increases survival in sporadic amyotrophic lateral sclerosis (2009 · Proceedings of the National Academy of Sciences · 被引 187)
• Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort (2009 · Neurology · 被引 161)