Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Structure and assembly of the dystrophin glycoprotein complex.
Wan L et al.
Nature, 2025
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Taneva A et al.
Genes, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C et al.
The Journal of Clinical Investigation, 2023
Targeted next-generation sequencing determined a novel SGCG variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.
Tran NC et al.
Clinical Case Reports, 2023
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Pluta N et al.
Genes, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.
Hoch L et al.
Frontiers in Pharmacology, 2022
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.
Pei J et al.
Clinical Epigenetics, 2021
[Sarcoglycanopathies: state of the art and therapeutic perspectives].
Fernández-Eulate G et al.
Medecine Sciences : M/s, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J et al.
Brain : a Journal of Neurology, 2020
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.
Pagola-Lorz I et al.
Orphanet Journal of Rare Diseases, 2019
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B et al.
Annals of Human Genetics, 2019
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P et al.
European Journal of Pediatrics, 2019
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
Liang WC et al.
Journal of the Neurological Sciences, 2016
The sarcoglycan complex in skeletal muscle.
Tarakci H et al.
Frontiers in Bioscience (landmark Edition), 2016
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Al-Zaidy SA et al.
Molecular Genetics & Genomic Medicine, 2015
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M et al.
Acta Neuropathologica Communications, 2014
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2014
Carrier rates of four single-gene disorders in Croatian Bayash Roma.
Barešić A et al.
Genetic Testing and Molecular Biomarkers, 2014
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.
Dınız G et al.
Turk Patoloji Dergisi, 2014
Epidemiology of muscular dystrophies in the Mediterranean area.
Topaloglu H
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
Progressive muscular dystrophies.
Chelly J et al.
Handbook of Clinical Neurology, 2013
Diagnostic strategy for limb-girdle muscular dystrophies.
Eymard B et al.
Revue Neurologique, 2012
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Limb-girdle muscular dystrophy-associated protein diseases.
Broglio L et al.
The Neurologist, 2010
C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.
Spengos K et al.
European Journal of Neurology, 2010
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
Sandonà D et al.
Expert Reviews in Molecular Medicine, 2009
Pathology and diagnosis of muscular dystrophies.
Navarro C et al.
Advances in Experimental Medicine and Biology, 2009
[Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].
Herczegfalvi A et al.
Ideggyogyaszati Szemle, 2008
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
Genetic modifiers of muscular dystrophy: implications for therapy.
Heydemann A et al.
Biochimica Et Biophysica Acta, 2007
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Kalaydjieva L et al.
Neuromuscular Disorders : Nmd, 2005
C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community.
Georgieva B et al.
Clinical Genetics, 2004
Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.
Shi W et al.
Muscle & Nerve, 2004
Novel sarcoglycan gene mutations in a large cohort of Italian patients.
Boito C et al.
Journal of Medical Genetics, 2003
A novel insert mutation in gamma-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.
Lin S et al.
Journal of Neurology, 2002
Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.
Bönnemann CG et al.
Seminars in Pediatric Neurology, 2002
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
Bönnemann CG et al.
Neuromuscular Disorders : Nmd, 2002
Screening for C283Y gamma-sarcoglycan mutation in a high-risk group of Bulgarian Gypsies: evidence for a geographical localization and a non-random distribution among Gypsy subgroups.
Todorova A et al.
Community Genetics, 2002
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.
Gordon ES et al.
Current Opinion in Neurology, 2001
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Merlini L et al.
Neurology, 2000