Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Khalilian S et al.
Human Genomics, 2025
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
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
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.
Hoch L et al.
Frontiers in Pharmacology, 2022
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
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
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
Alavi A et al.
Journal of Neurogenetics, 2017
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Monies D et al.
Human Genomics, 2016
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
Liang WC et al.
Journal of the Neurological Sciences, 2016
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Di Fruscio G et al.
European Journal of Human Genetics : Ejhg, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
Diniz G et al.
Pediatric Neurology, 2014
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Boyden SE et al.
Neurogenetics, 2010
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations.
Melacini P et al.
Muscle & Nerve, 1999
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Carrié A et al.
Journal of Medical Genetics, 1997
Mutations in the sarcoglycan genes in patients with myopathy.
Duggan DJ et al.
The New England Journal of Medicine, 1997
alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.
Duggan DJ et al.
Journal of the Neurological Sciences, 1996
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
Piccolo F et al.
Nature Genetics, 1995