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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
    Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability
    Peter Balicza, Renata Bencsik, Andras Lengyel, et al.
    September 08, 2020
  • Article
    Manifesting carriers of X-linked myotubular myopathyGenetic modifiers modulating the phenotype
    Lucas Santos Souza, Camila Freitas Almeida, Guilherme Lopes Yamamoto, et al.
    September 04, 2020
  • Article
    Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke
    Xing-Bo Mo, Huan Zhang, Ai-Li Wang, et al.
    September 01, 2020
  • Article
    Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
    Rodrigo de Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido, et al.
    September 01, 2020
  • Article
    Disease duration in autosomal dominant familial Alzheimer diseaseA survival analysis
    Ivanna M. Pavisic, Jennifer M. Nicholas, Antoinette O'Connor, et al.
    August 18, 2020
  • Article
    Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
    Jacob N. Miller, Ellen van der Plas, Mark Hamilton, et al.
    August 12, 2020
  • Clinical/Scientific Notes
    Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
    Kang-Yang Jih, Pei-Chien Tsai, Yu-Shuen Tsai, et al.
    August 06, 2020
  • Article
    D-DEMØ, a distinct phenotype caused by ATP1A3 mutations
    Lyndsey Prange, Milton Pratt, Kristin Herman, et al.
    August 04, 2020
  • Article
    LINS1-associated neurodevelopmental disorderFamily with novel mutation expands the phenotypic spectrum
    Christiane M. Neuhofer, Claudia B. Catarino, Heinrich Schmidt, et al.
    August 04, 2020
  • Article
    Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
    William W. Motley, Stephan Züchner, Steven S. Scherer
    July 31, 2020

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Neurology: Genetics | Online ISSN: 2376-7839

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