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Neurology. Genetics|December 4, 2023
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research NetworkPeter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, et al.
Neurology. Genetics|November 30, 2023
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort StudyDouglas R Langbehn, Swati S Sathe, Clement Loy, et al.
Neurology. Genetics|November 30, 2023
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker, et al.
Neurology. Genetics|January 18, 2024
PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial MorphologyVibhuti Rambani, Miriam Kolnikova, Michal Cagalinec, et al.
Neurology. Genetics|January 18, 2024
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K VariantsKotaro Noda, Yorito Hattori, Mika Hori, et al.
Neurology. Genetics|January 22, 2024
Machine Learning Models of Polygenic Risk for Enhanced Prediction of Alzheimer Disease EndophenotypesNathaniel B Gunter, Robel K Gebre, Jonathan Graff-Radford, et al.
Neurology. Genetics|January 19, 2024
FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 YearsCarlo Manco, Rosa Cortese, Manfredi Alberti, et al.
Neurology. Genetics|March 28, 2024
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMDRasha El Sherif, Yoshihiko Saito, Tomonari Awaya, et al.
Neurology. Genetics|March 22, 2024
Primary Progressive Apraxia of Speech Caused by TDP-43: A Case ReportGabriela Meade, Jennifer L Whitwell, Dennis W Dickson, et al.
Neurology. Genetics|July 13, 2023
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent TrajectoriesRobert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.
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