Associated Papers
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.
Jensen SM et al.
Journal of Neuromuscular Diseases, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ et al.
Arquivos De Neuro-psiquiatria, 2023
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies.
Bruge C et al.
Biomedicines, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
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
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.
Rasmussen M et al.
Acta Paediatrica (oslo, Norway : 1992), 2014
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
Stensland E et al.
Neuromuscular Disorders : Nmd, 2011
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.
Yamamoto LU et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2008
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Walter MC et al.
Journal of Medical Genetics, 2004
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2003