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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

  • Clinical/Scientific Notes
    Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
    Rubina Dad, Susan Walker, Stephen W. Scherer, et al.
    September 22, 2017
  • Clinical/Scientific Notes
    ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion
    Sali M.K. Farhan, Tania F. Gendron, Leonard Petrucelli, et al.
    September 22, 2017
  • Article
    De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities
    Ewen W. Sommerville, Charlotte L. Alston, Angela Pyle, et al.
    September 22, 2017
  • Article
    Children with 5′-end NF1 gene mutations are more likely to have glioma
    Corina Anastasaki, Stephanie M. Morris, Feng Gao, et al.
    September 22, 2017
  • Clinical/Scientific Notes
    Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
    David S. Lynch, Samantha H.Y. Loh, Jasmine Harley, et al.
    September 22, 2017
  • Article
    IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy
    Akihiko Ishiyama, Chika Sakai, Yuichi Matsushima, et al.
    September 08, 2017
  • Clinical/Scientific Notes
    Novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy
    Aqeela Al-Hashim, Hernan D. Gonorazky, Kimberly Amburgey, et al.
    August 24, 2017
  • Article
    Ataxia-pancytopenia syndrome with SAMD9L mutations
    Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, et al.
    August 24, 2017
  • Article
    Design and rationale for examining neuroimaging genetics in ischemic strokeThe MRI-GENIE study
    Anne-Katrin Giese, Markus D. Schirmer, Kathleen L. Donahue, et al.
    August 24, 2017
  • Article
    Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease
    Badri N. Vardarajan, Giuseppe Tosto, Roger Lefort, et al.
    August 24, 2017

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Neurology Genetics: 8 (4)

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Neurology: Genetics | Online ISSN: 2376-7839

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