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Thomas J. Kwiatkowski | Researchclopedia

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Thomas J. Kwiatkowski

Massachusetts General Hospital

17

Works

5,757

Citations

13

h-index

13

i10-index

Research Topics

Amyotrophic Lateral Sclerosis Research Neurogenetic and Muscular Disorders Research Genetic Neurodegenerative Diseases

Affiliations

Howard Hughes Medical Institute1990–1990

Emory University2008–2008

University of Massachusetts Chan Medical School2009–2009

Baylor College of Medicine1990–1994

King's College London2008–2008

Top Works

Mutations in the <i>FUS/TLS</i> Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Thomas J. Kwiatkowski,Daryl A. Bosco,et al.

20092,542 citations

Mitochondrial Function and Pathology

Chromosomal and Genetic Variations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Harry T. Orr,Ming‐Yi Chung,et al.

19931,651 citations

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

Daryl A. Bosco,Nathan Lemay,et al.

2010514 citations

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

Sandro Banfi,Antonio Servadio,et al.

1994376 citations

Reduced expression of the <i>Kinesin-Associated Protein 3</i> ( <i>KIFAP3</i> ) gene increases survival in sporadic amyotrophic lateral sclerosis

John E. Landers,Judith Melki,et al.

2009185 citations

Analysis of <i>FUS</i> gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

Nicola Ticozzi,Vincenzo Silani,et al.

2009159 citations

Rapid identification of yeast artificial chromosome clones by matrix pooling and crude Iysate PCR

Thomas J. Kwiatkowski,Huda Y. Zoghbi,et al.

199077 citations

Erratum: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Shinji Hadano,Collette K. Hand,et al.

200175 citations

New <i>VAPB</i> deletion variant and exclusion of <i>VAPB</i> mutations in familial ALS

John E. Landers,Aurélie Leclerc,et al.

200862 citations