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Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.

Publication ,  Journal Article
Sapp, PC; Hosler, BA; McKenna-Yasek, D; Chin, W; Gann, A; Genise, H; Gorenstein, J; Huang, M; Sailer, W; Scheffler, M; Valesky, M; Haines, JL ...
Published in: Am J Hum Genet
August 2003

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in approximately 10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for approximately 25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.

Duke Scholars

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2003

Volume

73

Issue

2

Start / End Page

397 / 403

Location

United States

Related Subject Headings

  • Superoxide Dismutase-1
  • Superoxide Dismutase
  • Pedigree
  • Middle Aged
  • Male
  • Lod Score
  • Humans
  • Haplotypes
  • Genetics & Heredity
  • Genes, Dominant
 

Citation

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Sapp, P. C., Hosler, B. A., McKenna-Yasek, D., Chin, W., Gann, A., Genise, H., … Brown, R. H. (2003). Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet, 73(2), 397–403. https://doi.org/10.1086/377158
Sapp, Peter C., Betsy A. Hosler, Diane McKenna-Yasek, Wendy Chin, Amity Gann, Hilary Genise, Julie Gorenstein, et al. “Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.Am J Hum Genet 73, no. 2 (August 2003): 397–403. https://doi.org/10.1086/377158.
Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet. 2003 Aug;73(2):397–403.
Sapp, Peter C., et al. “Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.Am J Hum Genet, vol. 73, no. 2, Aug. 2003, pp. 397–403. Pubmed, doi:10.1086/377158.
Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown RH. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet. 2003 Aug;73(2):397–403.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2003

Volume

73

Issue

2

Start / End Page

397 / 403

Location

United States

Related Subject Headings

  • Superoxide Dismutase-1
  • Superoxide Dismutase
  • Pedigree
  • Middle Aged
  • Male
  • Lod Score
  • Humans
  • Haplotypes
  • Genetics & Heredity
  • Genes, Dominant