Macrophages: A minimally invasive tool for monitoring collagen VI myopathies

Production of Type VI Collagen by Human Macrophages: A New Dimension in Macrophage Functional Heterogeneity

(2014) M. Schnoor et al.   JOURNAL OF IMMUNOLOGY

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

(2010) Matteo Bovolenta et al.   BMC Medical Genetics

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

(2009) Elena Martoni et al.   HUMAN MUTATION

Autosomal recessive Bethlem myopathy

(2009) F. Gualandi et al.   NEUROLOGY

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

(2008) A.K. Lampe et al.   HUMAN MUTATION

A refined diagnostic algorithm for Bethlem myopathy

(2008) D. Hicks et al.   NEUROLOGY

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

(2008) Luciano Merlini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA