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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
    Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
    Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
    September 19, 2023
  • Clinical/Scientific Note
    A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants
    Kotaro Noda, Yorito Hattori, Mika Hori, et al.
    September 05, 2023
  • Clinical/Scientific Note
    Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
    Luiz Eduardo Novis, Rodrigo S. Frezatti, David Pellerin, et al.
    August 28, 2023
  • Clinical/Scientific Note
    Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 MutationA Case Report
    Netta Agajany, Liran Horev, Netanel Agajany, et al.
    August 28, 2023
  • Research Article
    Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
    Marianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
    August 15, 2023
  • Research Article
    Genome-wide Analysis of Motor Progression in Parkinson Disease
    Alejandro Martínez Carrasco, Raquel Real, Michael Lawton, et al.
    August 08, 2023
  • Clinical/Scientific Note
    Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
    Andrew B. Stergachis, Elizabeth E. Blue, Madelyn A. Gillentine, et al.
    August 08, 2023
  • Research Article
    Improvement of an External Predictive Model Based on New Information Using a Synthetic Data ApproachApplication to CADASIL
    Henri Chhoa, Hugues Chabriat, Adelina Joanita Anato, et al.
    August 03, 2023
  • Research Article
    Genomic Diagnoses for Ectopic Intracerebral Calcifications
    Changrui Xiao, Thomas Cassini, Daniel Benavides, et al.
    August 02, 2023
  • Correction
    Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
    July 26, 2023

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Neurology: Genetics | Online ISSN: 2376-7839

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