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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
    Genetic Testing for Malformations of Cortical DevelopmentA Clinical Diagnostic Study
    Barbora Straka, Barbora Hermanovska, Lenka Krskova, et al.
    September 27, 2022
  • Clinical/Scientific Note
    Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
    Yasuko Kuroha, Takanobu Ishiguro, Mari Tada, et al.
    September 27, 2022
  • Correction
    Epilepsy Course and Developmental Trajectories in STXBP1-DEE
    September 26, 2022
  • Research Article
    Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
    Kento Matoba, Norio Chihara, Wataru Satake, et al.
    September 26, 2022
  • Research Article
    Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis
    Maurizio Grassano, Giorgia Brodini, Giovanni De Marco, et al.
    September 12, 2022
  • Clinical/Scientific Note
    Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant
    Yasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, et al.
    September 09, 2022
  • Research Article
    High Hereditary Transthyretin-Related Amyloidosis Prevalence in CreteGenetic Heterogeneity and Distinct Phenotypes
    Minas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, et al.
    September 09, 2022
  • NeuroImage
    3-Methylglutaconic Aciduria Type IA Rare Cause of Late-Onset Leukoencephalopathy
    Chiara Benzoni, Stefania Magri, Marco Moscatelli, et al.
    September 07, 2022
  • RESEARCH ARTICLE
    Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary NeuropathyGenotype and Phenotype Overview
    Signe Setlere, Marija Jurcenko, Linda Gailite, et al.
    September 06, 2022
  • Clinical/Scientific Note
    Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
    Roberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, et al.
    August 29, 2022

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Neurology: Genetics | Online ISSN: 2376-7839

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