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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
    Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report
    Elaine Choi, Breanne Dale, Rajesh RamachandranNair, et al.
    August 10, 2021
  • Article
    Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
    Marco Savarese, Anna Vihola, Manu E. Jokela, et al.
    August 10, 2021
  • Article
    Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
    Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, et al.
    August 10, 2021
  • Article
    Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
    Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, et al.
    August 06, 2021
  • Article
    Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability
    Sara A. Lewis, Somayeh Bakhtiari, Jennifer Heim, et al.
    July 29, 2021
  • Article
    Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
    Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, et al.
    July 28, 2021
  • Article
    Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia
    Catherine Jordan, Gregory Geisel, Julian E. Alecu, et al.
    July 20, 2021
  • Article
    Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia
    Aziz Shaibani, Shaida Khan, Marwan Shinawi
    July 16, 2021
  • Clinical/Scientific Notes
    PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
    Changrui Xiao, Thomas Markello, Wadih M. Zein, et al.
    July 15, 2021
  • Clinical/Scientific Notes
    Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele
    Alana E. Kirby, Virginia Kimonis, Katie Kompoliti
    July 08, 2021

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Neurology: Genetics | Online ISSN: 2376-7839

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