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Neurology. Genetics|June 30, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry DiseaseTobias Boettcher, Christian Beetz, Daniel Schulze, et al.
Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.
Neurology. Genetics|December 22, 2025
Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie SyndromeLara E Terry, Holly Dubbs, Kelly H Markwalter, et al.
Neurology. Genetics|April 11, 2025
Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA FranceLorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, et al.
Neurology. Genetics|May 9, 2025
Atypical Presentation of an LMNB1 Duplication Involving the Silencer Region: Beyond Classical Autosomal-Dominant LeukodystrophyJia Dong James Wang, Tamara N Kimball, Savvina Prapiadou, et al.
Neurology. Genetics|March 28, 2025
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN GeneClarisse Gins, Fabien Guimiot, Séverine Drunat, et al.
Neurology. Genetics|November 14, 2025
Disentangling the Causal Effects of Education and Participation Bias on Alzheimer Disease Using Mendelian RandomizationAadrita Chatterjee, Clémence Cavaillès, Neil M Davies, et al.
Neurology. Genetics|October 13, 2025
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome: Management RecommendationsAndrew Dhawan, Darren Liu, Sarah Baitamouni, et al.
Neurology. Genetics|July 30, 2025
Longitudinal Changes of Motor Function in Becker Muscular DystrophyLuca Bello, Pietro Riguzzi, Giuliana Capece, et al.
Neurology. Genetics|July 31, 2025
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction AnalysisCarla Florencia Bolano-Diaz, Harmen Reyngoudt, Ian J Wilson, et al.
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