Associated Papers
New genotype-phenotype correlations and transcriptomic findings in limb-girdle muscular dystrophy R9.
Yuan Q et al.
Journal of Neurology, 2025
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature.
Cervera-Gaviria M et al.
Journal of Pediatric Genetics, 2023
Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
Rasool IG et al.
Genes & Genomics, 2023
The Limb-Girdle Muscular Dystrophies.
Johnson NE et al.
Continuum (minneapolis, Minn.), 2022
Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.
Ortiz-Cordero C et al.
Stem Cell Reports, 2021
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian M et al.
The Journal of Gene Medicine, 2020
Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.
Gedlinske AM et al.
Neurology, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.
Alcántara-Ortigoza MA et al.
Genes, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
Lee AJ et al.
Neurology. Genetics, 2019
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
MacLeod H et al.
Neuromuscular Disorders : Nmd, 2007