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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
    Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
    Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.
    October 31, 2016
  • Clinical/Scientific Notes
    Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia
    Wei Wang, Yanhong Wu, Chen Wang, et al.
    October 31, 2016
  • Article
    Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
    D.J. Lewis-Smith, J. Duff, A. Pyle, et al.
    October 31, 2016
  • Clinical/Scientific Notes
    FHF1 (FGF12) epileptic encephalopathy
    Sameer Al-Mehmadi, Miranda Splitt, For DDD Study group*, et al.
    October 28, 2016
  • Article
    SORL1 mutations in early- and late-onset Alzheimer disease
    Michael L. Cuccaro, Regina M. Carney, Yalun Zhang, et al.
    October 26, 2016
  • The Helix
    Helix: October 2016 issue
    Stefan M. Pulst
    October 20, 2016
  • Article
    Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions
    Diana Lehmann, Malte E. Kornhuber, Carolina Clajus, et al.
    October 19, 2016
  • Article
    Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
    David J. Amor, Ashley P.L. Marsh, Elsdon Storey, et al.
    October 18, 2016
  • Clinical/Scientific Notes
    Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation
    Valeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, et al.
    October 11, 2016
  • Article
    Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
    S.T. Oestergaard, T. Stojkovic, J.R. Dahlqvist, et al.
    October 11, 2016

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Neurology: Genetics | Online ISSN: 2376-7839

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