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Neurology. Genetics|September 9, 2024
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and HypotoniaFabian Dannenberg, Arpad Von Moers, Petra Bittigau, et al.Neurology. Genetics|July 22, 2024
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular AtrophyMar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, et al.Neurology. Genetics|August 26, 2024
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical UtilityKaramala Yalapalli Manisha, Alfiya Fasaludeen, Prashanth Poulose, et al.Neurology. Genetics|August 23, 2024
Erratum: CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal MyopathyNeurology. Genetics|August 23, 2024
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two CasesEdouard Berling, Philippe Latour, Klervie Loiselet, et al.Neurology. Genetics|May 8, 2024
Large-Scale Whole-Genome Analysis of HTLV-1-Associated Myelopathy Identified Hereditary Spastic ParaplegiasNaoki Takao, Naoko Yagishita, Natsumi Araya, et al.Neurology. Genetics|April 30, 2024
Erratum: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular AtrophyNeurology. Genetics|June 6, 2024
Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic ParaplegiaZhi-Xian Ye, Hao-Ling Xu, Na-Ping Chen, et al.Neurology. Genetics|May 31, 2024
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple SclerosisElina Misicka, Yunfeng Huang, Stephanie Loomis, et al.Neurology. Genetics|May 10, 2024
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable SeverityJohanna Palmio, Panu Kiviranta, Päivi H Hartikainen, et al.Pageof 88