New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

(2019) Zhiying Xie et al.   Orphanet Journal of Rare Diseases

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies

(2019) Giuseppe Vita et al.   NEUROLOGICAL SCIENCES

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

(2019) Wei Liu et al.   GENETICS IN MEDICINE

A dose response study in γ–sarcoglycanopathy mouse model in the context of mechanical stress

(2019) David Israeli et al.   Molecular Therapy-Methods & Clinical Development

Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association

(2019) Steven E. Lipshultz et al.   CIRCULATION

Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy

(2019) Pablo B. Winckler et al.   CLINICAL GENETICS

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy

(2019) Miguel Oliveira Santos et al.   JOURNAL OF CLINICAL NEUROSCIENCE

European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia

(2019) Theodoros Kyriakides et al.   MUSCLE & NERVE

creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands

(2018) Volker Straub et al.   NEUROMUSCULAR DISORDERS

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

(2018) Lidia Gonzalez-Quereda et al.   NEUROMUSCULAR DISORDERS

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis

(2018) Diana Cantero et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure

(2016) Piotr Ponikowski et al.   EUROPEAN HEART JOURNAL

The sarcoglycan complex in skeletal muscle

(2016) Joachim Berger   Frontiers in Bioscience-Landmark

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

(2015) C. Semplicini et al.   NEUROLOGY

Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults

(2015) M. Tarnopolsky et al.   NEUROMUSCULAR DISORDERS

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

(2015) Roula Ghaoui et al.   JAMA Neurology

Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D

(2014) Elisa Bianchini et al.   HUMAN MOLECULAR GENETICS

Sarcoglycanopathy: Clinical and histochemical characteristics in 66 patients

(2010) A Nalini et al.   NEUROLOGY INDIA

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects

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

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

(2009) M. Fanin et al.   NEUROLOGY

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

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

Revised spectrum of mutations in sarcoglycanopathies

(2008) Madiha Trabelsi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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