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
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K et al.
Biorxiv : the Preprint Server for Biology, 2024
37873263 (PubMed )
Supplement: NIHPP2023.07.12.548370v4-supplement-6.pdf
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Lu QL 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
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
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
32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Jimenez-Mallebrera C et al.
Brain Pathology (zurich, Switzerland), 2009
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
Wahbi K et al.
Neuromuscular Disorders : Nmd, 2008
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
Darin N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2007
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
Vieira NM et al.
Neuromuscular Disorders : Nmd, 2006
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Quijano-Roy S et al.
Brain & Development, 2006
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