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Neurology Genetics
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Notable This Week

February 2021; 7(1) Selected by Stefan M. Pulst, MD, Dr med, Editor

ARTICLE |Silver-Russell Syndrome
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
REVIEW |Genetics
Neurology: Genetics Year in Review
ARTICLE |Neurovascular Disease
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
ARTICLE |CEDNIK Syndrome
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
View Table of Contents

Latest Articles

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  • Article
    Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
    Janardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, et al.
    February 16, 2021
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    Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, et al.
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    V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
    February 11, 2021
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    February 08, 2021
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    PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
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    February 03, 2021
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    February 02, 2021
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Neurology: Genetics
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  • Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
  • Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
  • MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
  • Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
  • V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
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