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

SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells

(2019) Parysatis Sachs et al.   Nature Communications

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients.

(2019) L. ten Dam et al.   CLINICAL GENETICS

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

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

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

(2019) Wei Liu et al.   GENETICS IN MEDICINE

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

(2019) Claudia Strafella et al.   Frontiers in Neurology

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

(2019) Jaione Lasa-Elgarresta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

(2019) William Lostal et al.   Science Translational Medicine

MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms

(2018) Sudhir Kumar et al.   MOLECULAR BIOLOGY AND EVOLUTION

233rd ENMC International Workshop:

(2018) William Lostal et al.   NEUROMUSCULAR DISORDERS

Molecular genetic study of Calpainopathy in Iran

(2018) Marzieh Mojbafan et al.   GENE

Insertion sequence 1 from calpain-3 is functional in calpain-2 as an internal propeptide

(2018) Christian-Scott E. McCartney et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance

(2017) Zachry T. Soens et al.   HUMAN MUTATION

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation

(2017) Carlos A. Pantoja-Melendez et al.   PLoS One

An eccentric calpain, CAPN3/p94/calpain-3

(2016) Yasuko Ono et al.   BIOCHIMIE

A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy

(2016) John Vissing et al.   BRAIN

Limb girdle muscular dystrophies

(2016) John Vissing   CURRENT OPINION IN NEUROLOGY

312. Gene Correction of LGMD2A Patient-Specific iPS Cells for Targeted Autologous Cell Therapy

(2016) Sridhar Selvaraj et al.   MOLECULAR THERAPY

Clinical and Pathological Heterogeneity of Korean Patients withCAPN3Mutations

(2016) Hyung Jun Park et al.   YONSEI MEDICAL JOURNAL

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

The Limb-Girdle Muscular Dystrophies

(2014) Matthew P. Wicklund et al.   NEUROLOGIC CLINICS

The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation

(2014) Yasuko Ono et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A

(2012) Su-Shan Luo et al.   MUSCLE & NERVE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Clinical and pathological features in 15 Chinese patients with calpainopathy

(2010) Su-Shan Luo et al.   MUSCLE & NERVE

Dystrophin Immunity in Duchenne's Muscular Dystrophy

(2010) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

(2008) Morten Duno et al.   EUROPEAN JOURNAL OF HUMAN GENETICS