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Neurology. Genetics|February 3, 2026
Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian FamilyJacob Saucier, Mohammad Al-Qadi, Eric Pierre Allain, et al.
Neurology. Genetics|January 19, 2026
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular AtrophyShinichiro Yamada, Atsushi Hashizume, Daisuke Ito, et al.
Neurology. Genetics|February 6, 2023
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged AdultsJasmeet Pannu Hayes, Meghan E Pierce, Emma Brown, et al.
Neurology. Genetics|January 30, 2023
Clinical Manifestation of Nebulin-Associated Nemaline MyopathyCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.
Neurology. Genetics|November 16, 2022
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of LatviaBaiba Lace, Ieva Micule, Viktorija Kenina, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Neurology. Genetics|July 9, 2020
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissueKatherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, et al.
Neurology. Genetics|July 9, 2020
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutationCarola Hedberg-Oldfors, Niklas Darin, Christer Thomsen, et al.
Neurology. Genetics|June 26, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published casesGeorgia Xiromerisiou, Chrysoula Marogianni, Katerina Dadouli, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
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