Associated Papers
The novel use of the CFTR corrector C17 in muscular dystrophy: pharmacological profile and in vivo efficacy.
Benetollo A et al.
Biochemical Pharmacology, 2025
Synthesis and Evaluation of Bithiazole Derivatives As Potential α-Sarcoglycan Correctors.
Ribaudo G et al.
Acs Medicinal Chemistry Letters, 2023
CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.
Scano M et al.
Human Molecular Genetics, 2022
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou DG et al.
The Protein Journal, 2021
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
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.
Pagola-Lorz I et al.
Orphanet Journal of Rare Diseases, 2019
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
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.
Fayssoil A et al.
Plos One, 2016
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
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
Sandonà D et al.
Expert Reviews in Molecular Medicine, 2009
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L et al.
Neuromuscular Disorders : Nmd, 2008
Novel sarcoglycan gene mutations in a large cohort of Italian patients.
Boito C et al.
Journal of Medical Genetics, 2003
New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.
Higuchi I et al.
Journal of the Neurological Sciences, 1997
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
Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy.
Campbell KP
Annals of Neurology, 1995
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
Ljunggren A et al.
Annals of Neurology, 1995
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
Piccolo F et al.
Nature Genetics, 1995