Limb girdle muscular dystrophies

Dystroglycanopathies: coming into focus

(2011) Caroline Godfrey et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I

(2011) A. Palmieri et al.   JOURNAL OF NEUROLOGY

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I

(2011) K. D. Mathews et al.   NEUROLOGY

Telethonin-deficiency initially presenting as a congenital muscular dystrophy

(2011) Ana Ferreiro et al.   NEUROMUSCULAR DISORDERS

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

(2011) Yuji Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

(2010) Véronique Bolduc et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common Susceptibility Variants Examined for Association with Dilated Cardiomyopathy

(2010) Evadnie Rampersaud et al.   ANNALS OF HUMAN GENETICS

Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D

(2010) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

(2010) D. Hicks et al.   BRAIN

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

(2010) J Van Reeuwijk et al.   CLINICAL GENETICS

Tripartite-motif proteins and innate immune regulation

(2010) Finlay W McNab et al.   CURRENT OPINION IN IMMUNOLOGY

Myofibrillar myopathies

(2010) Duygu Selcen   CURRENT OPINION IN NEUROLOGY

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

(2010) Luigi Bisceglia et al.   EUROPEAN JOURNAL OF HUMAN 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

Neuromuscular imaging in inherited muscle diseases

(2010) Mike P. Wattjes et al.   EUROPEAN RADIOLOGY

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

(2010) Karine Charton et al.   HUMAN MOLECULAR GENETICS

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

(2010) William Lostal et al.   HUMAN MOLECULAR GENETICS

Transcriptional and translational effects of intronic CAPN3 gene mutations

(2010) Anna Chiara Nascimbeni et al.   HUMAN MUTATION

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice

(2010) Renzhi Han et al.   JOURNAL OF CLINICAL INVESTIGATION

Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy

(2010) Koichi Ojima et al.   JOURNAL OF CLINICAL INVESTIGATION

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

(2010) I. Penisson-Besnier et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

(2010) S. Sandell et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Perioral skin biopsy to study skeletal muscle protein expression

(2010) Lucio Santoro et al.   MUSCLE & NERVE

Novel diagnostic features of dysferlinopathies

(2010) Xiomara Q. Rosales et al.   MUSCLE & NERVE

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

(2010) Steven E. Boyden et al.   NEUROGENETICS

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

(2010) C. Paradas et al.   NEUROLOGY

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

A new distal myopathy with mutation in anoctamin 5

(2010) Ibrahim Mahjneh et al.   NEUROMUSCULAR DISORDERS

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

(2010) Eva Stensland et al.   NEUROMUSCULAR DISORDERS

Database resources of the National Center for Biotechnology Information

(2010) E. W. Sayers et al.   NUCLEIC ACIDS RESEARCH

Calpain 3 Is a Rapid-Action, Unidirectional Proteolytic Switch Central to Muscle Remodeling

(2010) Antoine de Morrée et al.   PLoS One

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

(2010) M. Krahn et al.   Science Translational Medicine

Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy

(2010) J Díaz-Manera et al.   Cell Death & Disease

Limb-girdle muscular dystrophy type 2D gene therapy restores α-sarcoglycan and associated proteins

(2009) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

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

(2009) Christopher P. Garnham et al.   BIOCHEMISTRY

Caveolinopathies: from the biology of caveolin-3 to human diseases

(2009) Elisabetta Gazzerro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects

(2009) Dorianna Sandonà et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

(2009) Martin Krahn et al.   Genetic Testing and Molecular Biomarkers

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

(2009) Yen-Hui Chiu et al.   HUMAN MOLECULAR GENETICS

Intragenic deletion ofTRIM32in compound heterozygotes with sarcotubular myopathy/LGMD2H

(2009) Kristian Borg et al.   HUMAN MUTATION

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

(2009) Nicolas Wein et al.   HUMAN MUTATION

Laminopathies and the long strange trip from basic cell biology to therapy

(2009) Howard J. Worman et al.   JOURNAL OF CLINICAL INVESTIGATION

New aspects on patients affected by dysferlin deficient muscular dystrophy

(2009) L. Klinge et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

(2009) Marta Margeta et al.   MUSCLE & NERVE

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

(2009) M. Fanin et al.   NEUROLOGY

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: High prevalence of 525del T

(2009) SatishV Khadilkar et al.   NEUROLOGY INDIA

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

(2009) Richard Charlton et al.   NEUROMUSCULAR DISORDERS

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H

(2009) Mireille Cossée et al.   NEUROMUSCULAR DISORDERS

Eosinophilic myositis as presenting symptom in γ-sarcoglycanopathy

(2009) Sarah K. Baumeister et al.   NEUROMUSCULAR DISORDERS

Disease Rescue and Increased Lifespan in a Model of Cardiomyopathy and Muscular Dystrophy by Combined AAV Treatments

(2009) Carmen Vitiello et al.   PLoS One

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

(2008) Cecilia Jimenez-Mallebrera et al.   BRAIN PATHOLOGY

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

Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay

(2008) Verena Wildförster et al.   MOLECULAR AND CELLULAR PROBES

Late onset in dysferlinopathy widens the clinical spectrum

(2008) L. Klinge et al.   NEUROMUSCULAR DISORDERS

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

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H

(2007) Valentina Saccone et al.   HUMAN MUTATION

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

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