Associated Papers
Saturation mutagenesis-reinforced functional assays for disease-related genes.
Ma K et al.
Cell, 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
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
31747956 (PubMed )
Supplement: 13023_2019_1242_MOESM2_ESM.docx
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C et al.
Neurology, 2015
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
Willer T et al.
Elife, 2014
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
Kava M et al.
Pediatric Neurology, 2013
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T et al.
Nature Genetics, 2012
22522420 (PubMed )
Supplement: NIHMS365606-supplement-1.pdf
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G et al.
Journal of Medical Genetics, 2011
Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].
Wang CH et al.
The American Journal of Pathology, 2011
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Van Reeuwijk J et al.
Clinical Genetics, 2010
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