Associated Papers
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.
Rahmuni Y et al.
Molecular Genetics & Genomic Medicine, 2026
A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy.
Sezer A et al.
Clinical Genetics, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.
Kale MY et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands.
Iammarino MA et al.
Neuromuscular Disorders : Nmd, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Histopathological analysis of gamma sarcoglycanopathy in Moroccan patients: A case series.
Ouazzani HEL et al.
International Journal of Surgery Case Reports, 2025
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.
Sanga S et al.
Scientific Reports, 2023
An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy.
Chabbi N et al.
Muscles (basel, Switzerland), 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
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
[Sarcoglycanopathies: state of the art and therapeutic perspectives].
Fernández-Eulate G et al.
Medecine Sciences : M/s, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A et al.
Neurology. Genetics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Consanguinity and Inbreeding in Health and Disease in North African Populations.
Romdhane L et al.
Annual Review of Genomics and Human Genetics, 2019
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.
Clinical Genetics, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
Ware JS et al.
Journal of the American College of Cardiology, 2018
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 2018
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba M et al.
Plos One, 2018
γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.
Dalichaouche I et al.
Muscle & Nerve, 2017
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Magri F et al.
Muscle & Nerve, 2017
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
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
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Cotta A et al.
Arquivos De Neuro-psiquiatria, 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 frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.
El Kerch F et al.
Genetic Testing and Molecular Biomarkers, 2014
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.
Schröder NW et al.
Muscle & Nerve, 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
[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].
Rodríguez-Quiroga SA et al.
Medicina, 2013
Diagnostic strategy for limb-girdle muscular dystrophies.
Eymard B et al.
Revue Neurologique, 2012
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients.
Hadj Salem I et al.
Molecular Biology Reports, 2012
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
Nigro V et al.
Current Opinion in Neurology, 2011