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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
    Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation
    Evie Alexandra Robson, Luke Dixon, Liam Causon, et al.
    July 13, 2020
  • Clinical/Scientific Notes
    Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations
    Edoardo Monfrini, Dario Ronchi, Giulia Franco, et al.
    July 13, 2020
  • Clinical/Scientific Notes
    SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
    Martin Paucar, Tobias Granberg, Kristina Lagerstedt-Robinson, et al.
    July 07, 2020
  • Article
    APOE ϵ4 modifies the relationship between infectious burden and poor cognition
    Chen Zhao, Kevin Strobino, Yeseon Park Moon, et al.
    July 07, 2020
  • Editorial
    What does a defect in N-glycosylation mean for neuronal migration and function?
    Alica M. Goldman
    July 07, 2020
  • Article
    SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
    Tommy Stödberg, Måns Magnusson, Nicole Lesko, et al.
    July 02, 2020
  • Article
    Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort
    Julia Pytte, Loren L. Flynn, Ryan S. Anderton, et al.
    July 01, 2020
  • Article
    Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
    Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
    June 30, 2020
  • Clinical/Scientific Notes
    Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
    Mohamed Kazamel, Michael A. Lopez, Martina Bebin, et al.
    June 25, 2020
  • Clinical/Scientific Notes
    GLUT1 deficiencyRetinal detrimental effects of gliovascular modulation
    Matt Henry, John Kitchens, Juan M. Pascual, et al.
    June 25, 2020

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Neurology Genetics: 7 (2)

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Neurology: Genetics | Online ISSN: 2376-7839

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