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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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Latest Articles

  • Article
    Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
    Dona Aboud Syriani, Darice Wong, Sameer Andani, et al.
    May 20, 2020
  • Article
    Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
    Majida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
    May 20, 2020
  • Editorial
    Intronic pentanucleotide expansion in the replication factor 1 gene (RFC1) is a major cause of adult-onset ataxia
    Sylvia M. Boesch, Martha A. Nance
    May 20, 2020
  • Clinical/Scientific Notes
    Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation
    Rei Yasuda, Tomokatsu Yoshida, Ikuko Mizuta, et al.
    May 19, 2020
  • Article
    Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease
    Daniel O. Claassen, Jody Corey-Bloom, E. Ray Dorsey, et al.
    May 14, 2020
  • Article
    Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy
    Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
    May 11, 2020
  • Views and Reviews
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisitedGenotype-phenotype correlations of all published cases
    Georgia Xiromerisiou, Chrysoula Marogianni, Katerina Dadouli, et al.
    May 11, 2020
  • Clinical/Scientific Notes
    Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome
    Anasofia Elizondo-Plazas, Marisol Ibarra-Ramírez, Azalea Garza-Báez, et al.
    May 07, 2020
  • Article
    Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
    Valter Niemelä, Ammar Salih, Daniela Solea, et al.
    April 28, 2020
  • Article
    TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35
    Yanxing Chen, Dengchang Wu, Benyan Luo, et al.
    April 22, 2020

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Neurology Genetics: 7 (1)

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Neurology: Genetics | Online ISSN: 2376-7839

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