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Neurology. Genetics|April 12, 2016
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGSXia Tian, Wen-Chen Liang, Yanming Feng, et al.
Neurology. Genetics|April 12, 2016
Late-onset Alzheimer disease risk variants mark brain regulatory lociMariet Allen, Michaela Kachadoorian, Minerva M Carrasquillo, et al.
Neurology. Genetics|February 4, 2025
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy: A Systematic ReviewYixin Zhan, Shijia Chen, Zhenghan Jin, et al.
Neurology. Genetics|February 21, 2025
Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy: Case ReportTamar Gachechiladze, Otar Koniashvili, Nazhi Tabatadze, et al.
Neurology. Genetics|January 15, 2025
Friedreich Ataxia: An (Almost) 30-Year History After Gene DiscoveryMassimo Pandolfo
Neurology. Genetics|January 21, 2025
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene VariantJenae Vancura, Abhik K Banerjee, Natalie K Boyd, et al.
Neurology. Genetics|December 9, 2024
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 PatientsEsmee S B van Kleef, Karlijn Bouman, Joery P F Molenaar, et al.
Neurology. Genetics|December 20, 2024
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard DiagnosticsMartin Wendlandt, Hannes Erdmann, Simone Rost, et al.
Neurology. Genetics|November 14, 2024
Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese PatientsHaozhe Sun, Fuze Zheng, Jiaxi Yu, et al.
Neurology. Genetics|November 19, 2024
Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel MutationsChen Zhang, Junli Shan, Jiaqi Su, et al.
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