4.6 Article

Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

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

Rishika A. Pace et al.

ANNALS OF NEUROLOGY (2008)

Article Biochemistry & Molecular Biology

Three novel collagen VI chains, α4(VI), α5(VI), and α6(VI)

Jamie Fitzgerald et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Biochemistry & Molecular Biology

Three novel collagen VI chains with high homology to the α3 chain

Sudheer Kumar Gara et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Clinical Neurology

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

L. Merlini et al.

NEUROLOGY (2008)

Article Clinical Neurology

Diagnosis and etiology of congenital muscular dystrophy

R. A. Peat et al.

NEUROLOGY (2008)

Article Clinical Neurology

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Naomi L. Baker et al.

ANNALS OF NEUROLOGY (2007)

Article Multidisciplinary Sciences

Regulation of outside-in signaling and affinity by the β2 I domain of integrin αLβ2

JianFeng Chen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Neurosciences

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

S Petrini et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2005)

Article Clinical Neurology

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

B Giusti et al.

ANNALS OF NEUROLOGY (2005)

Article Biochemistry & Molecular Biology

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

NL Baker et al.

HUMAN MOLECULAR GENETICS (2005)

Review Genetics & Heredity

Collagen VI related muscle disorders

AK Lampe et al.

JOURNAL OF MEDICAL GENETICS (2005)

Review Clinical Neurology

The congenital muscular dystrophies in 2004: a century of exciting progress

F Muntoni et al.

NEUROMUSCULAR DISORDERS (2004)

Article Biochemistry & Molecular Biology

Structural basis of type VI collagen dimer formation

S Ball et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Multidisciplinary Sciences

Structure and allosteric regulation of the αXβ2 integrin I domain

T Vorup-Jensen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)

Review Immunology

Integrin activation and structural rearrangement

J Takagi et al.

IMMUNOLOGICAL REVIEWS (2002)

Article Genetics & Heredity

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

E Demir et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)

Article Clinical Neurology

Frameshift mutation in the collagen VI gene causes Ullrich's disease

I Higuchi et al.

ANNALS OF NEUROLOGY (2001)