Latest Articles

Subject

Clinical/Scientific Note
Vanishing White Matter Disease Presenting as Dementia and InfertilityA Case Report
Jasmine Parihar, Deepti Vibha, Roopa Rajan, et al.

May 31, 2022
Clinical/Scientific Note
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy
Johanna van der Put, Dalia Daugeliene, Åsa Bergendal, et al.

May 31, 2022
Research Article
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
Ganna Balagura, Julie Xian, Antonella Riva, et al.

May 31, 2022
Review
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
Xin Lin, Yuanhao Yang, Phillip E. Melton, et al.

May 27, 2022
Clinical/Scientific Note
Familial Brain Calcifications With LeukoencephalopathyA Novel PDGFB Variant
Jack Shen, Amelle Shillington, Alberto J. Espay, et al.

May 20, 2022
Clinical/Scientific Note
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene
Tsepo Goerttler, Letizia Zanetti, Maria Regoni, et al.

May 20, 2022
Research Article
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia
Layne N. Rodden, Christian Rummey, Yi Na Dong, et al.

May 17, 2022
Research Article
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo
Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, et al.

May 16, 2022
Research Article
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Baiba Lace, Ieva Micule, Viktorija Kenina, et al.

May 16, 2022
Research Article
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic StrokeGene-Based and Gene Set Analyses
Hao Peng, Yiming Fan, Jing Li, et al.

May 11, 2022

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