Latest Articles

Subject

Research Article
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data ApproachApplication to CADASIL
Henri Chhoa, Hugues Chabriat, Adelina Joanita Anato, et al.

August 03, 2023
Research Article
Genomic Diagnoses for Ectopic Intracerebral Calcifications
Changrui Xiao, Thomas Cassini, Daniel Benavides, et al.

August 02, 2023
Correction
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
July 26, 2023
Research Article
LAMA2-Related Muscular Dystrophy Across the Life SpanA Cross-sectional Study
Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, et al.

July 19, 2023
Research Article
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus
Philip W. Tipton, Merve Atik, Alexandra I. Soto-Beasley, et al.

July 19, 2023
Research Article
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Gorka Fernández-Eulate, Julian Theuriet, Christopher J. Record, et al.

July 17, 2023
Research Article
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories
Robert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.

July 11, 2023
Clinical/Scientific Note
Ataxia and DiplopiaA New SCN8A-Related Phenotype
Alexandra Laliberté, Kenneth A. Myers

July 11, 2023
Research Article
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS
Vadim Khasminsky, Eitan Auriel, Judith Luckman, et al.

July 05, 2023
Research Article
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans
Nomakhosazana R. Monnakgotla, Amokelani C. Mahungu, Jeannine M. Heckmann, et al.

June 16, 2023

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