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  1. No Access

    Article

    NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 var...

    Kevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, Nicola Ticozzi… in Nature Genetics (2016)

  2. Article

    Open Access

    Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

    Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35 D4Z4 macrosatellite array. Molecular diagnostic criteria for FSHD are complex and involve a...

    Takako I Jones, Chi Yan, Peter C Sapp, Diane McKenna-Yasek… in Clinical Epigenetics (2014)

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  3. No Access

    Article

    Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

    Mutations in the profilin 1 (PFN1) gene, which is crucial for the conversion of monomeric to filamentous actin, can cause familial amyotrophic lateral sclerosis, suggesting that alterations in cytoskeletal pathwa...

    Chi-Hong Wu, Claudia Fallini, Nicola Ticozzi, Pamela J. Keagle, Peter C. Sapp… in Nature (2012)

  4. No Access

    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)