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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
    NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
    Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, et al.
    January 21, 2021
  • Article
    MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
    Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, et al.
    January 21, 2021
  • Article
    Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
    Daphne J. Smits, Rachel Schot, Martina Wilke, et al.
    January 21, 2021
  • Clinical/Scientific Notes
    Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
    Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, et al.
    January 12, 2021
  • Article
    New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
    Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.
    January 12, 2021
  • Editorial
    Does Somatic Mosaicism Account for Some Sporadic ALS?
    Éanna B. Ryan, Han-Xiang Deng
    January 12, 2021
  • Article
    Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
    Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, et al.
    January 11, 2021
  • Clinical/Scientific Notes
    Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
    Keisuke Ueda, Marwan Shinawi, Toni S. Pearson
    January 11, 2021
  • Article
    V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
    Martin Paucar, Richard Ågren, Tianyi Li, et al.
    January 06, 2021
  • Article
    Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
    Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, et al.
    December 29, 2020

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Neurology Genetics: 7 (2)

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Neurology: Genetics | Online ISSN: 2376-7839

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