Associated Papers
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
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
35846154 (PubMed )
Supplement: Table9.XLSX › LUSC
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
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.
Dey A et al.
Frontiers in Genetics, 2013
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
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.
Angelin A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Collagen VI related muscle disorders.
Lampe AK et al.
Journal of Medical Genetics, 2005
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Muntoni F et al.
Neuromuscular Disorders : Nmd, 2002
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
Demir E et al.
American Journal of Human Genetics, 2002
Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy.
Angelin A et al.
Biochimica Et Biophysica Acta, 0
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