Associated Papers
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.
Qualtieri A et al.
International Journal of Molecular Sciences, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Skeletal Muscle, 2018
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Cotta A et al.
Arquivos De Neuro-psiquiatria, 2014
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.
Krag TO et al.
Skeletal Muscle, 2011
Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I.
Palmieri A et al.
Journal of Neurology, 2011
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.
Boito CA et al.
Virchows Archiv : an International Journal of Pathology, 2007
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
Sveen ML et al.
Annals of Neurology, 2006
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Torelli S et al.
Neuromuscular Disorders : Nmd, 2005
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E et al.
Annals of Neurology, 2003