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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

  • Research Article
    A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson DiseaseBaseline Results
    Stella Jensen-Roberts, Taylor L. Myers, Peggy Auinger, et al.
    August 11, 2022
  • Research Article
    Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
    Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.
    August 08, 2022
  • Clinical/Scientific Note
    A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
    Flavia Palombo, Chiara La Morgia, Claudio Fiorini, et al.
    August 08, 2022
  • Clinical/Scientific Note
    Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
    Jay P. Ross, Fulya Akçimen, Calwing Liao, et al.
    July 13, 2022
  • Clinical/Scientific Note
    A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
    Norah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
    July 08, 2022
  • Clinical/Scientific Note
    Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
    Arianna Manini, Daniele Velardo, Patrizia Ciscato, et al.
    July 06, 2022
  • RESEARCH Article
    FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
    Orly Goldstein, Talya Inbar, Merav Kedmi, et al.
    July 06, 2022
  • Clinical/Scientific Note
    Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
    Guido Primiano, Alessandra Torraco, Daniela Verrigni, et al.
    July 06, 2022
  • Clinical/Scientific Note
    Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
    Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, et al.
    June 27, 2022
  • Research Article
    Genome Sequencing in the Parkinson Disease Clinic
    Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, et al.
    June 20, 2022

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Neurology: Genetics | Online ISSN: 2376-7839

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