Latest Articles

Subject

Clinical/Scientific Note
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, et al.

March 15, 2023
Research Article
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
Edoardo Monfrini, Alba Pesini, Fabio Biella, et al.

March 14, 2023
Clinical/Scientific Note
Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
Chiara Folland, Vijay Ganesh, Ben Weisburd, et al.

March 14, 2023
Correction
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
March 03, 2023
Research Article
Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
Hongfei Tai, An Wang, Yumei Zhang, et al.

February 28, 2023
Research Article
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, et al.

February 02, 2023
Research Article
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, et al.

February 01, 2023
Research Article
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.

January 25, 2023
Research Article
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
Ian C. Smith, Chantal A. Pileggi, Ying Wang, et al.

January 25, 2023
RESEARCH Article
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, et al.

January 23, 2023

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