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Neurology. Genetics|January 18, 2024
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Neurology. Genetics|January 3, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar SubtypeAdrienne Elbert, Katherine Dixon, Yaoqing Shen, et al.
Neurology. Genetics|March 18, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathiesMatthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, et al.
Neurology. Genetics|July 23, 2024
A Novel Pattern of Dystonia in DYT-VPS16: "Speaking in Tongues"Clément Desjardins, Cécile Delorme, Aurélie Méneret, et al.
Neurology. Genetics|July 23, 2024
CSF1R-Related Disorder: Prevalence of CSF1R Variants and Their Clinical Significance in the UK PopulationCharles Wade, Kyle Runeckles, Jeremy Chataway, et al.
Neurology. Genetics|May 28, 2024
Correction to Preprint Server Information
Neurology. Genetics|July 21, 2023
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure HydrocephalusPhilip W Tipton, Merve Atik, Alexandra I Soto-Beasley, et al.
Neurology. Genetics|July 12, 2023
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic CancersAlice F Bewley, Titilope M Akinwe, Tychele N Turner, et al.
Neurology. Genetics|June 19, 2023
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier: Case Report and Review of the LiteratureStefan Sennfält, Oskar Aspegren, Martin Engvall, et al.
Neurology. Genetics|June 22, 2023
Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth DiseaseHsueh Wen Hsueh, Hsiao-Jung Kao, Chi-Chao Chao, et al.
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