ColVI myopathies: where do we stand, where do we go?

Drug screening in a zebrafish model of Duchenne muscular dystrophy

(2011) G. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies

(2010) Paolo Bernardi et al.   Annals of the New York Academy of Sciences

Zebrafish models of collagen VI-related myopathies

(2010) W.R. Telfer et al.   HUMAN MOLECULAR GENETICS

Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy

(2010) Rui-Zhu Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

(2010) Ching H. Wang et al.   JOURNAL OF CHILD NEUROLOGY

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

(2010) Paolo Grumati et al.   NATURE MEDICINE

Bethlem myopathy: A study of two families

(2010) A Nalini et al.   NEUROLOGY INDIA

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands

(2010) Valérie Allamand et al.   NEUROMUSCULAR DISORDERS

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

(2010) N. Deconinck et al.   NEUROMUSCULAR DISORDERS

A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS)

(2009) Francesc Castro-Giner et al.   BMC Medical Genetics

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects inCol6a1−/−myopathic mice

(2009) T Tiepolo et al.   BRITISH JOURNAL OF PHARMACOLOGY

Reduction of Lysyl Hydroxylase 3 Causes Deleterious Changes in the Deposition and Organization of Extracellular Matrix

(2009) Maija Risteli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Omigapil Ameliorates the Pathology of Muscle Dystrophy Caused by Laminin- 2 Deficiency

(2009) M. Erb et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5′ part of the split COL6A4 gene

(2009) Raimund Wagener et al.   MATRIX BIOLOGY

A common variant on chromosome 11q13 is associated with atopic dermatitis

(2009) Jorge Esparza-Gordillo et al.   NATURE GENETICS

Autosomal recessive Bethlem myopathy

(2009) F. Gualandi et al.   NEUROLOGY

Natural history of Ullrich congenital muscular dystrophy

(2009) A. Nadeau et al.   NEUROLOGY

Autosomal recessive inheritance of classic Bethlem myopathy

(2009) A. Reghan Foley et al.   NEUROMUSCULAR DISORDERS

An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells

(2008) Paola Braghetta et al.   EXPERIMENTAL CELL RESEARCH

Three Novel Collagen VI Chains, α4(VI), α5(VI), and α6(VI)

(2008) Jamie Fitzgerald et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Three Novel Collagen VI Chains with High Homology to the α3 Chain

(2008) Sudheer Kumar Gara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A refined diagnostic algorithm for Bethlem myopathy

(2008) D. Hicks et al.   NEUROLOGY

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

(2008) L. Merlini et al.   NEUROLOGY

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

(2008) N.C. Voermans et al.   NEUROMUSCULAR DISORDERS

Therapy of collagen VI-related myopathies (Bethlem and Ullrich)

(2008) Luciano Merlini et al.   Neurotherapeutics

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