Experiences in the molecular genetic and histopathological evaluation of calpainopathies

A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

(2020) John Vissing et al.   HUMAN MUTATION

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

(2020) Huahua Zhong et al.   JOURNAL OF MEDICAL GENETICS

Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies

(2019) Berk Özyilmaz et al.   ANNALS OF HUMAN GENETICS

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

(2018) Babi Ramesh Reddy Nallamilli et al.   Annals of Clinical and Translational Neurology

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

(2016) Inna Inashkina et al.   BMC MUSCULOSKELETAL DISORDERS

Natural history of LGMD2A for delineating outcome measures in clinical trials

(2016) Isabelle Richard et al.   Annals of Clinical and Translational Neurology

The Frequency of c.550delA Mutation of theCANP3Gene in the Polish LGMD2A Population

(2015) Małgorzata Dorobek et al.   Genetic Testing and Molecular Biomarkers

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

(2015) Marina Fanin et al.   MUSCLE & NERVE

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

(2014) Kristýna Stehlíková et al.   BMC Neurology

Redox State and Mitochondrial Respiratory Chain Function in Skeletal Muscle of LGMD2A Patients

(2014) Mats I. Nilsson et al.   PLoS One

Non-Proteolytic Functions of Calpain-3 in Sarcoplasmic Reticulum in Skeletal Muscles

(2011) Koichi Ojima et al.   JOURNAL OF MOLECULAR BIOLOGY

Welcome to Skeletal Muscle

(2011) David J Glass et al.   Skeletal Muscle

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis

(2008) L. Blázquez et al.   NEUROGENETICS