Associated Papers
Oligomer-dependent and -independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.
Hisatsune C et al.
The Journal of Biological Chemistry, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Hunn SM et al.
Annals of Clinical and Translational Neurology, 2025
Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.
Pan L et al.
Scientific Reports, 2025
The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.
Nambu Y et al.
Muscle & Nerve, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review.
Hong X et al.
Bmc Musculoskeletal Disorders, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
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
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.
Zhang L et al.
Human Heredity, 2024
Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A.
Feng W et al.
Frontiers in Genetics, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Lin F et al.
Orphanet Journal of Rare Diseases, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.
Ma HS et al.
Clinical Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
Zhong H et al.
Journal of Medical Genetics, 2021
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
Zhang C et al.
Molecular Medicine Reports, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.
Lin PC et al.
Molecular Genetics & Genomic Medicine, 2020
[A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities].
Hamaguchi M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].
Huang K et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Limb-girdle Muscular Dystrophy Type 2A with Muscular Eosinophilic Infiltration in a Chinese Patient.
Luo YB et al.
Chinese Medical Journal, 2018
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Mori-Yoshimura M et al.
Muscle & Nerve, 2017
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
Seong MW et al.
Clinical Genetics, 2016
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
Park HJ et al.
Yonsei Medical Journal, 2016
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
Ojima K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2014
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI et al.
Plos One, 2014
Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.
Tsuburaya R et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2011
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Keira Y et al.
Neuroscience Research, 2007
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
Chae J et al.
Neuromuscular Disorders : Nmd, 2001
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
Minami N et al.
Journal of the Neurological Sciences, 1999