Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 38 publications
Demyelinating Peripheral Neuropathy Caused by the p.R160H Mutation in the LITAF Gene.
Journal: Journal of community hospital internal medicine perspectives
Published: January 30, 2023
Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy.
Journal: Cureus
Published: October 17, 2022
Clinical and Genetic Analysis of a Patient with CMT4J.
Journal: Neurology international
Published: January 18, 2022
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke.
Journal: Neurology
Published: October 05, 2021
Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 25, 2021
Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene.
Journal: Case reports in neurology
Published: October 12, 2020
Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke.
Journal: Stroke
Published: July 23, 2020
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Journal: Acta neuropathologica
Published: September 19, 2019
Subtype Specificity of Genetic Loci Associated With Stroke in 16 664 Cases and 32 792 Controls.
Journal: Circulation. Genomic and precision medicine
Published: July 16, 2019
Genetic Analysis of a Large Family with Migraine, Vertigo, and Motion Sickness.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: July 02, 2019
Last Updated: 09/26/2026