Neurology Genetics | A peer-reviewed clinical and translational neurology open access journal

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Notable This Week

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

RESEARCH ARTICLE | Neuromuscular Disease

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

RESEARCH ARTICLE | Amyotrophic Lateral Sclerosis

Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans

RESEARCH ARTICLE | Neurodegenerative Disease

Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease

RESEARCH ARTICLE | Amyotrophic Lateral Sclerosis

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

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Latest Articles

Research Article
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study
Douglas R. Langbehn, Swati S. Sathe, Clement Loy, et al.

November 28, 2023
Clinical/Scientific Notes
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3
Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker, et al.

November 28, 2023
Research Article
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping
Naga M. Guruju, Vanessa Jump, Richard Lemmers, et al.

November 22, 2023
Research Article
Adult Phenotype of SYNGAP1-DEE
Marlene Rong, Tim Benke, Quratulain Zulfiqar Ali, et al.

November 17, 2023
Research Article
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
Peter B. Kang, Magali Jorand-Fletcher, Wanfang Zhang, et al.

November 17, 2023
Clinical/Scientific Notes
PMPCA-Related EncephalopathyNovel Variants, Phenotype Extension, and Mitochondrial Morphology
Vibhuti Rambani, Miriam Kolnikova, Michal Cagalinec, et al.

November 15, 2023

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