Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

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Published in Neuromuscul Disord on October 01, 1996

Authors

B A Hosler1, G A Nicholson, P C Sapp, W Chin, R W Orrell, J S de Belleroche, J Esteban, L J Hayward, D Mckenna-Yasek, L Yeung, A K Cherryson, J E Dench, S D Wilton, N G Laing, H R Horvitz, R H Brown

Author Affiliations

1: Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Charlestown 02129, USA.

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Tumoricidal activity of tumor necrosis factor-related apoptosis-inducing ligand in vivo. Nat Med (1999) 9.78

Mechanisms and functions of cell death. Annu Rev Cell Biol (1991) 7.76

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Odorant-selective genes and neurons mediate olfaction in C. elegans. Cell (1993) 6.30

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Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med (1988) 5.84

Identification and characterization of 22 genes that affect the vulval cell lineages of the nematode Caenorhabditis elegans. Genetics (1985) 5.83

C. elegans cell-signalling gene sem-5 encodes a protein with SH2 and SH3 domains. Nature (1992) 5.59

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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology (2006) 5.29

unc-93(e1500): A behavioral mutant of Caenorhabditis elegans that defines a gene with a wild-type null phenotype. Genetics (1980) 4.93

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Isolation and genetic characterization of cell-lineage mutants of the nematode Caenorhabditis elegans. Genetics (1980) 4.78

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Biochemical components of the photosynthetic CO2 compensation point of higher plants. Biochem Biophys Res Commun (1975) 3.25

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Child abuse by burning. Surg Clin North Am (1970) 2.46

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Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA (2001) 2.36

Increased 3-nitrotyrosine in both sporadic and familial amyotrophic lateral sclerosis. Ann Neurol (1997) 2.35

Intramitochondrial localisation of glycine decarboxylase in spinach leaves. Biochem Biophys Res Commun (1977) 2.34

Separation of mitochondria from contaminating subcellular structures utilizing silica sol gradient centrifugation. Plant Physiol (1979) 2.32

Chemosensory cell function in the behavior and development of Caenorhabditis elegans. Cold Spring Harb Symp Quant Biol (1990) 2.28

Mutations in the alpha1 subunit of an L-type voltage-activated Ca2+ channel cause myotonia in Caenorhabditis elegans. EMBO J (1997) 2.27

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27

Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J Cell Biol (2000) 2.24

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