Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

LTBP4genotype predicts age of ambulatory loss in duchenne muscular dystrophy

(2012) Kevin M. Flanigan et al.   ANNALS OF NEUROLOGY

Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy

(2012) Francesca Gualandi et al.   HUMAN GENE THERAPY

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

(2012) E.M. Clement et al.   NEUROMUSCULAR DISORDERS

Collagen VI, Conformation of A-domain Arrays and Microfibril Architecture

(2011) Nicola Beecher et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early onset collagen VI myopathies: Genetic and clinical correlations

(2010) Laura Briñas et al.   ANNALS OF NEUROLOGY

Natural history of Ullrich congenital muscular dystrophy

(2009) A. Nadeau et al.   NEUROLOGY

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

(2008) Rishika A. Pace et al.   ANNALS OF NEUROLOGY

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

(2008) Ningning Dang et al.   EXPERIMENTAL DERMATOLOGY

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

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

(2008) L. Merlini et al.   NEUROLOGY