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
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.
Ek M et al.
Genome Medicine, 2026
Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy.
Astigiano C et al.
Acs Pharmacology & Translational Science, 2025
Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3.
Coles CA et al.
Journal of the Neurological Sciences, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 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
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R et al.
Orphanet Journal of Rare Diseases, 2025
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.
Rahmuni Y et al.
Irish Journal of Medical Science, 2024
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 2024
Advanced therapeutic approaches in sarcoglycanopathies.
Scano M et al.
Current Opinion in Pharmacology, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.
Lewis S et al.
Genes, 2023
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
Verebi C et al.
Neuromuscular Disorders : Nmd, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease.
Chung Tran N et al.
Frontiers in Genetics, 2023
Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review.
Carson L et al.
Irish Journal of Medical Science, 2022
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M et al.
Neurogenetics, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.
Scano M et al.
Human Molecular Genetics, 2022
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.
Hoch L et al.
Frontiers in Pharmacology, 2022
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou DG et al.
The Protein Journal, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 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
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Correction of muscular dystrophies by CRISPR gene editing.
Chemello F et al.
The Journal of Clinical Investigation, 2020
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn M et al.
European Journal of Neurology, 2020
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.
Alcántara-Ortigoza MA et al.
Genes, 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
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 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
Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins.
Lu Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation.
Hoch L et al.
Scientific Reports, 2019
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
Exon Skipping in a Dysf-Missense Mutant Mouse Model.
Malcher J et al.
Molecular Therapy. Nucleic Acids, 2018
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
Carotti M et al.
Human Molecular Genetics, 2018
Different outcome of sarcoglycan missense mutation between human and mouse.
Henriques SF et al.
Plos One, 2018
Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.
Xia G et al.
Current Stem Cell Reports, 2018
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
Alavi A et al.
Journal of Neurogenetics, 2017
Nuclear bodies reorganize during myogenesis in vitro and are differentially disrupted by expression of FSHD-associated DUX4.
Homma S et al.
Skeletal Muscle, 2016
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Reddy HM et al.
Muscle & Nerve, 2016
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D et al.
Clinical Genetics, 2016