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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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Notable This Week

Selected by Stefan M. Pulst, MD, Dr med, Editor

RESEARCH ARTICLE | Inherited Neurologic Disorders
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4
RESEARCH ARTICLE | Leukodystrophies
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
RESEARCH ARTICLE | Cognitive Disorders/Dementia
Clinical Deep Phenotyping of ABCA7 Mutation Carriers
RESEARCH ARTICLE | Motor Neuron Disease
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without C9orf72 Expansion
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Latest Articles

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    June 27, 2022
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Neurology: Genetics
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  • Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic StrategiesA Review
  • Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
  • Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene
  • Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia
  • Progress in Amyotrophic Lateral Sclerosis Gene DiscoveryReflecting on Classic Approaches and Leveraging Emerging Technologies
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