Associated Papers
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R et al.
Orphanet Journal of Rare Diseases, 2025
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W et al.
Neurogenetics, 2024
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
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
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
Sandonà D et al.
Expert Reviews in Molecular Medicine, 2009
Novel sarcoglycan gene mutations in a large cohort of Italian patients.
Boito C et al.
Journal of Medical Genetics, 2003
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