Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

(2009) J Oliveira et al.   CLINICAL GENETICS

Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

(2009) Yaqun Zou et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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

De novoLMNAmutations cause a new form of congenital muscular dystrophy

(2008) Susana Quijano-Roy et al.   ANNALS OF NEUROLOGY

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

(2008) Emma M. Clement et al.   ARCHIVES OF NEUROLOGY

Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy

(2008) Alessia Angelin et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)

(2008) Paul Thornhill et al.   BRAIN

Molecular Basis for the Role of Selenium in Muscle Development and Function

(2008) Alain Lescure et al.   CHEMISTRY & BIODIVERSITY

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

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

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

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

Synaptic Defects in a Drosophila Model of Congenital Muscular Dystrophy

(2008) Y. P. Wairkar et al.   JOURNAL OF NEUROSCIENCE

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

(2008) Genri Kawahara et al.   MUSCLE & NERVE

Gene table of monogenic neuromuscular disorder (nuclear genome only)

(2008)   NEUROMUSCULAR DISORDERS

POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

(2008) S. Messina et al.   NEUROMUSCULAR DISORDERS

Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle

(2008) M. J. Jurynec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

CD90-positive cells, an additional cell population, produce laminin α2 upon transplantation to dy3k/dy3k mice

(2007) So-ichiro Fukada et al.   EXPERIMENTAL CELL RESEARCH

Bridging structure with function: Structural, regulatory, and developmental role of laminins

(2007) Julia Tzu et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes

(2007) Valérie Allamand et al.   JOURNAL OF GENE MEDICINE

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

(2007) Olfa Siala et al.   NEUROMUSCULAR DISORDERS