(Q37528083)

20 August 2017

1 reference

title

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

1 reference

20 August 2017

0 references

0 references

Umbertina Conti Reed

1

1 reference

20 August 2017

publication date

1 June 2009

1 reference

Arquivos de Neuro-Psiquiatria

20 August 2017

published in

1 reference

20 August 2017

volume

67

1 reference

20 August 2017

issue

2A

1 reference

20 August 2017

page(s)

343-362

1 reference

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

20 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Congenital muscular dystrophy: molecular and cellular aspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

The congenital muscular dystrophies: recent advances and molecular insights

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Congenital muscular dystrophies: new aspects of an expanding group of disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Congenital muscular dystrophies and the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

De novo LMNA mutations cause a new form of congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Dystroglycan: important player in skeletal muscle and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Biology of the striated muscle dystrophin-glycoprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

O-mannosyl glycans in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Glycosylation in congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Subcellular localization of fukutin and fukutin-related protein in muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Functional requirements for fukutin-related protein in the Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Structure, function and pathology of O-mannosyl glycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Dystroglycan: from biosynthesis to pathogenesis of human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Dystroglycan glycosylation and its role in matrix binding in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Defective glycosylation in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Glycosylation defects in inherited muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Glycosylation defects: a new mechanism for muscular dystrophy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Glycobiology of neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Protein glycosylation in disease: new insights into the congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Defective glycosylation in congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

The role of defective glycosylation in congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Glycosylation defects in muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

The dystroglycanopathies: the new disorders of O-linked glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Defect in glycosylation that causes muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Congenital muscular dystrophies involving the O-mannose pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminin isoforms in development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminins and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

A new nomenclature for the laminins

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Structural basis for ligand recognition by integrins

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations in the integrin alpha7 gene cause congenital myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

The basement membrane/basal lamina of skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Structure and function of basement membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Collagen VI related muscle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

The supramolecular organization of collagen VI microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Structural basis of type VI collagen dimer formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Localization of the laminin alpha 2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency: metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Disruption of the lama2 gene in embryonic stem cells: laminin alpha 2 is necessary for sustenance of mature muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy/dy) mouse muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminin alpha1 chain improves laminin alpha2 chain deficient peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminin alpha1 chain mediated reduction of laminin alpha2 chain deficient muscular dystrophy involves integrin alpha7beta1 and dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

CD90-positive cells, an additional cell population, produce laminin alpha2 upon transplantation to dy(3k)/dy(3k) mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Three novel collagen VI chains with high homology to the alpha3 chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Ullrich disease due to deficiency of collagen VI in the sarcolemma

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Collagens and collagen-related diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Alpha-dystroglycan, the usual suspect?

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Targeting dystroglycan in the brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Alpha-dystroglycan interactions affect cerebellar granule neuron migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Dystroglycan distribution in adult mouse brain: a light and electron microscopy study

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Glyc-O-genetics of Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

POMT2 mutation in a patient with 'MEB-like' phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Expanding the clinical spectrum of POMT1 phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Dystroglycan: a possible mediator for reducing congenital muscular dystrophy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Glycosylation eases muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Artificial sweeteners--enhancing glycosylation to treat muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Synaptic defects in a Drosophila model of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Understanding the importance of selenium and selenoproteins in muscle function

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Molecular basis for the role of selenium in muscle development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Laminin α2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000200035

10.1590/S0004-282X2009000200035

21 January 2018

Identifiers

DOI

1 reference

release_vu36vrzzvncezeyklmmf5oouy4

20 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vu36vrzzvncezeyklmmf5oouy4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference