Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J et al.
Brain : a Journal of Neurology, 2022
A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.
Pourebrahim K et al.
The Journal of Cardiovascular Aging, 2021
A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.
Chen J et al.
Plos One, 2015
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
Kärkkäinen S et al.
Journal of Molecular Medicine (berlin, Germany), 2003
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
Tsubata S et al.
The Journal of Clinical Investigation, 2000
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
Dinçer P et al.
Neuromuscular Disorders : Nmd, 2000
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
Duggan DJ et al.
Neurogenetics, 1997
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