Latest Articles
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- Research ArticleWhole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 DeficiencyEdoardo Monfrini, Alba Pesini, Fabio Biella, et al.March 14, 2023
- Clinical/Scientific NoteTranscriptome and Genome Analysis Uncovers a DMD Structural VariantA Case ReportChiara Folland, Vijay Ganesh, Ben Weisburd, et al.March 14, 2023
- CorrectionExpanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar AtaxiaMarch 03, 2023
- Research ArticleClinical Features and Classification of Neuronal Intranuclear Inclusion DiseaseHongfei Tai, An Wang, Yumei Zhang, et al.February 28, 2023
- Research ArticleCopy 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.February 02, 2023
- Research ArticleGenetic 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.February 01, 2023
- Research ArticleClinical Manifestation of Nebulin-Associated Nemaline MyopathyCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.January 25, 2023
- Research ArticleNovel Homozygous Variant in COQ7 in Siblings With Hereditary Motor NeuropathyIan C. Smith, Chantal A. Pileggi, Ying Wang, et al.January 25, 2023
- RESEARCH ArticleNeurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related SyndromeClaudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, et al.January 23, 2023
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Dr. Jeffrey Allen and Dr. Nicholas Purcell