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Neurology. Genetics|January 18, 2024
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic Syndrome: A Case ReportErika K Williams, Cristina Shea, Paloma Gonzalez-Perez
Neurology. Genetics|January 5, 2024
Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic FaciesCha Gon Lee, Hyun Jung Kim, Chang Ahn Seol, et al.
Neurology. Genetics|November 29, 2023
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome MappingNaga M Guruju, Vanessa Jump, Richard Lemmers, et al.
Neurology. Genetics|January 18, 2024
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature ReviewKristen N Wong, Lorenzo D Botto, Miao He, et al.
Neurology. Genetics|May 23, 2024
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide StudySeungbok Lee, Jihoon G Yoon, Juhyeon Hong, et al.
Neurology. Genetics|June 4, 2024
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic CausesMutsuo Kouhashi, Kayoko Yukawa, Naoko Yano, et al.
Neurology. Genetics|May 24, 2024
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related DisorderNada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, et al.
Neurology. Genetics|September 23, 2024
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control StudyEmilie Groulx-Boivin, Andrea Oliveira-Carneiro, Helen Carlson, et al.
Neurology. Genetics|September 19, 2024
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICUJonathan LoVoi, Don Q Thai, Jennifer Han, et al.
Neurology. Genetics|October 8, 2024
Ictal and Postictal Central Apnea in DEPDC5-Related EpilepsyStefano Meletti, Gian Marco Duma, Margherita Burani, et al.
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