Associated Papers
New genotype-phenotype correlations and transcriptomic findings in limb-girdle muscular dystrophy R9.
Yuan Q et al.
Journal of Neurology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
Mao B et al.
Bmc Musculoskeletal Disorders, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.
Cheung A et al.
Journal of Clinical Neuromuscular Disease, 2023
[Analysis of clinical characteristics and genetic variants in two children with Limb-girdle muscular dystrophy autosomal recessive 9 FKRP-related].
Yu J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Esapa CT et al.
Frontiers in Molecular Biosciences, 2023
[Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I].
Wang G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
Audhya IF et al.
Journal of Neuromuscular Diseases, 2022
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 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
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Liang WC et al.
Orphanet Journal of Rare Diseases, 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
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
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
Lee AJ et al.
Neurology. Genetics, 2019
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.
Wang L et al.
Orphanet Journal of Rare Diseases, 2018
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
Wang DN et al.
The International Journal of Neuroscience, 2018
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.
Xie Z et al.
Biomed Research International, 2018
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
Fu X et al.
Journal of Human Genetics, 2016
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
Dai Y et al.
Neuromuscular Disorders : Nmd, 2015
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
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
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