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  1. No Access

    Article

    SPTLC1 is mutated in hereditary sensory neuropathy, type 1

    Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2–4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located wit...

    Khemissa Bejaoui, Chenyan Wu, Margaret D. Scheffler, Geoffry Haan… in Nature Genetics (2001)

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    Article

    Refined map** and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

    Amyotrophic lateral sclerosis (ALS) is a progressive degenerative neuromuscular disease that shows familial, autosomal dominant inheritance in 10%–15% of cases. Previous genetic analysis of one large family l...

    Betsy A. Hosler, Peter C. Sapp, Ralph Berger, Gilmore O'Neill… in Neurogenetics (1998)

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    Article

    Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

    Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome (PAC) contig...

    **g Liu, Masashi Aoki, Isabel Illa, Chenyan Wu, Michel Fardeau… in Nature Genetics (1998)

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    Article

    Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35

    Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described — autosomal dominant forms (ALS1, ALS3), clinically indistinguis...

    Afif Hentati, Khemissa Bejaoui, Margaret A. Pericak-Vance… in Nature Genetics (1994)