Latest Articles

Subject

Clinical/Scientific Notes
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, et al.

May 09, 2022
Research Article
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
Tanja Višnjar, Aleš Maver, Karin Writzl, et al.

May 03, 2022
Review
Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic StrategiesA Review
Sarah Breevoort, Summer Gibson, Karla Figueroa, et al.

April 29, 2022
Review
Progress in Amyotrophic Lateral Sclerosis Gene DiscoveryReflecting on Classic Approaches and Leveraging Emerging Technologies
Samuel N. Smukowski, Heather Maioli, Caitlin S. Latimer, et al.

April 27, 2022
Clinical/Scientific Note
Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant
Grayson Beecher, Teerin Liewluck, Margherita Milone

April 26, 2022
Correction & Replacement
Migraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular Involvement
April 26, 2022
Acknowledgment to Reviewers
Neurology® Genetics Acknowledgment to Reviewers
Stefan Pulst

April 26, 2022
Correction
Multigene Panel Testing in a Large Cohort of Adults With EpilepsyDiagnostic Yield and Clinically Actionable Genetic Findings
April 26, 2022
Clinical/Scientific Note
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations
Hui-Jun Yang, Gyeongmin Park, Il Seong Nam-Goong, et al.

April 13, 2022
Research Article
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
Salvatore Rossi, Anna Rubegni, Vittorio Riso, et al.

March 30, 2022

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