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Selected by Selected by Stefan M. Pulst, MD, Dr med, Editor

RESEARCH ARTICLE | Neuromuscular Disease

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

RESEARCH ARTICLE | Amyotrophic Lateral Sclerosis

Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans

RESEARCH ARTICLE | Neurodegenerative Disease

Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease

RESEARCH ARTICLE | Amyotrophic Lateral Sclerosis

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

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Latest Articles

Clinical/Scientific Notes
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic SyndromeA Case Report
Erika K. Williams, Cristina Shea, Paloma Gonzalez-Perez

September 26, 2023
Clinical/Scientific Notes
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review
Kristen N. Wong, Lorenzo D. Botto, Miao He, et al.

September 26, 2023
Research Article
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.

September 19, 2023
Clinical/Scientific Note
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants
Kotaro Noda, Yorito Hattori, Mika Hori, et al.

September 05, 2023
Clinical/Scientific Note
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
Luiz Eduardo Novis, Rodrigo S. Frezatti, David Pellerin, et al.

August 28, 2023
Clinical/Scientific Note
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 MutationA Case Report
Netta Agajany, Liran Horev, Netanel Agajany, et al.

August 28, 2023

Advancing IDEAS Awareness
New Post
Racial, Ethnic, and Sex Disparities in the Evaluation and Management of Hemorrhagic Stroke
Lakshman Kalasapudi and Nicholas A. Morris, MD, FAAN, FNCS | September 29, 2023
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Advances in Global Neurology
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Global disparities in the multiple sclerosis patient journey: Illustrative commentary from Kenya
Dilraj Singh Sokhi, BMedSci, MBChB, MRCP | September 27, 2023
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Transforming Health Care Delivery in Neurology
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Accelerate, Innovate, Learn
May 24, 2023 | Neha S. Dangayach, MD, MSCR, FNCS, FAAN, FCCP, FCCM
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