Associated Papers
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L et al.
International Journal of Molecular Sciences, 2023
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
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Panadés-de Oliveira L et al.
Journal of Neurology, 2019
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.
Castagnaro S et al.
Autophagy, 2016
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies.
Sabatelli P et al.
Journal of Cellular Physiology, 2012
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK et al.
Journal of Medical Genetics, 2005
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