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Neurology. Genetics|September 23, 2024
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal MyopathySunsanee Pongpakdee, Metha Apiwattanakul, Thanes Termglinchan, et al.
Neurology. Genetics|August 14, 2024
Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging PhenotypeMario Tortora, Elisa Cattaneo, Luigina Spaccini, et al.
Neurology. Genetics|May 22, 2025
PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy PhenotypesMadeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Neurology. Genetics|April 4, 2025
Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental DisordersAlisa Mo, Christopher A Walsh
Neurology. Genetics|February 28, 2025
"Chocolate Chip Sign" on Susceptibility-Weighted Imaging: A Novel Neuroimaging Biomarker for HTRA1-Related Cerebral Small Vessel DiseaseShoichiro Ando, Rie Saito, Sho Kitahara, et al.
Neurology. Genetics|May 31, 2024
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain MorphologyNaz Karadag, Espen Hagen, Alexey A Shadrin, et al.
Neurology. Genetics|June 6, 2024
TARDBP Mutations in Facial-Onset Sensory and Motor NeuronopathyVincent Picher-Martel, Suma Babu, Anthony A Amato
Neurology. Genetics|June 25, 2024
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related DystrophyA Reghan Foley, Pomi Yun, Meganne E Leach, et al.
Neurology. Genetics|December 17, 2025
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA SequencingKohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.
Neurology. Genetics|December 1, 2025
SYNE1 Deficiency Manifesting Primarily With Motor Neuron DiseaseHenriette V F Senghor, Raúl Domínguez Rubio, Carla Marco, et al.
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