Associated Papers
Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.
Aldharee H et al.
Genes, 2024
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Hu C et al.
Human Mutation, 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
[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].
Hong XW et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy.
Sardone F et al.
Frontiers in Aging Neuroscience, 2016
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
Tagliavini F et al.
Biochimica Et Biophysica Acta, 2014
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
Zhang YZ et al.
World Journal of Pediatrics : Wjp, 2014
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.
Bozorgmehr B et al.
Iranian Journal of Child Neurology, 2013
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.
Gualandi F et al.
Muscle & Nerve, 2011
Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.
Sabatelli P et al.
The Journal of Investigative Dermatology, 2011
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
Martoni E et al.
Human Mutation, 2009
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