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Neurology. Genetics|December 25, 2024
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of LiteratureNikhil B Ghayal, Shanu F Roemer, Philip W Tipton, et al.
Neurology. Genetics|January 15, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome SequencingAnastasia Ambrose, Vanda McNiven, Diane Wilson, et al.
Neurology. Genetics|January 14, 2025
TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder VariantKatrin Õunap, Tiia Reimand, Eve Õiglane-Shlik, et al.
Neurology. Genetics|February 13, 2025
Women With Genetic EpilepsiesPaula T Marques, Nagham Kaka, Quratulain Zulfiqar Ali, et al.
Neurology. Genetics|February 6, 2025
A 3'UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDPAugustine Chemparathy, Yann Le Guen, Yi Zeng, et al.
Neurology. Genetics|December 5, 2024
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period ParalysisSonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, et al.
Neurology. Genetics|December 7, 2023
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar AtaxiaFatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, et al.
Neurology. Genetics|January 3, 2024
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B)Cendrine Foucard, Marie Belley, Aude Sangare, et al.
Neurology. Genetics|December 27, 2023
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyH Westley Phillips, Alissa M D'Gama, Yilan Wang, et al.
Neurology. Genetics|December 27, 2023
C9orf72 Repeat Expansion Discordance in 6 Multigenerational KindredsMarie Ryan, Mark A Doherty, Ahmad Al Khleifat, et al.
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