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

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

(2014) Kristýna Stehlíková et al.   BMC Neurology

Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients

(2014) Marina Fanin et al.   CLINICAL NEUROPATHOLOGY

Autolytic Activation of Calpain 3 Proteinase Is Facilitated by Calmodulin Protein

(2014) Natalia Ermolova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

(2014) Marc Bartoli et al.   MUSCLE & NERVE

EntireCAPN3gene deletion in a patient with limb-girdle muscular dystrophy type 2A

(2014) Oihane Jaka et al.   MUSCLE & NERVE

A Cardiomyopathy in a Patient With Limb Girdle Muscular Dystrophy Type 2A

(2013) Arthur Okere et al.   Circulation-Heart Failure

In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

(2013) Lorea Blázquez et al.   HUMAN MUTATION

Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study

(2013) M. Fanin et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

(2012) Simon Hauerslev et al.   BMC MUSCULOSKELETAL DISORDERS

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

(2012) M Fanin et al.   CLINICAL GENETICS

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

(2012) Andreas Leidenroth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation

(2012) Xiomara Q. Rosales et al.   MUSCLE & NERVE

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective

(2012) Arunkanth Ankala et al.   MUSCLE & NERVE

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies

(2012) L. ten Dam et al.   NEUROLOGY

Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

(2011) G. Piluso et al.   CLINICAL CHEMISTRY

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

(2011) M Bartoli et al.   CLINICAL GENETICS

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements

(2011) Ikhlass Hadj Salem et al.   JOURNAL OF HUMAN GENETICS

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

(2011) Sabrina Sacconi et al.   JOURNAL OF MEDICAL GENETICS

Immunodetection analysis of muscular dystrophies in Mexico

(2011) Benjamín Gómez-Díaz et al.   MUSCLE & NERVE

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

(2010) M Krahn et al.   CLINICAL GENETICS

SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

(2010) Lea Papić et al.   European Journal of Medical Genetics

Transcriptional and translational effects of intronic CAPN3 gene mutations

(2010) Anna Chiara Nascimbeni et al.   HUMAN MUTATION

Clinical and pathological features in 15 Chinese patients with calpainopathy

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

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

(2010) C. Angelini et al.   NEUROLOGICAL RESEARCH

Limb girdle muscular dystrophy type 2A in India: A study based on semi-quantitative protein analysis, with clinical and histopathological correlation

(2010) MeharC Sharma et al.   NEUROLOGY INDIA

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

(2010) R. Stramare et al.   Radiologia Medica

Limb-Girdle Muscular Dystrophy Type 2A Can Result from Accelerated Autoproteolytic Inactivation of Calpain 3†

(2009) Christopher P. Garnham et al.   BIOCHEMISTRY

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

(2009) M. Fanin et al.   NEUROLOGY

Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A

(2009) Richard Charlton et al.   NEUROMUSCULAR DISORDERS

Diagnostic des dystrophies musculaires progressives des ceintures de type 2A ou calpaïnopathies : étude des patients du centre de référence des maladies neuromusculaires de Bordeaux (France)

(2009) F. Perez et al.   REVUE NEUROLOGIQUE

Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy

(2008) Marie-Louise Sveen et al.   ARCHIVES OF NEUROLOGY

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

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

(2008) Marina Fanin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

(2007) Michela Guglieri et al.   HUMAN MUTATION

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

(2007) Harriet P. Lo et al.   NEUROMUSCULAR DISORDERS

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques

(2007) Hanna K. Kolski et al.   NEUROPATHOLOGY