(Q37738318)

22 August 2017

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title

Congenital muscular dystrophies: toward molecular therapeutic interventions (English)

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22 August 2017

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James Collins

1

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PubMed ID

20425232

22 August 2017

Carsten G Bönnemann

series ordinal

2

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22 August 2017

1 March 2010

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Current Neurology and Neuroscience Reports

22 August 2017

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22 August 2017

10

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22 August 2017

2

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22 August 2017

83-91

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https://scigraph.springernature.com/pub.10.1007/s11910-010-0092-8

22 August 2017

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cites work

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0092-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0092-8

Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0092-8

Selenoprotein function and muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0092-8

Redox regulation of the ryanodine receptor/calcium release channel

21 January 2018

1 reference

12 December 2020

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

1 reference

12 December 2020

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

1 reference

12 December 2020

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

1 reference

12 December 2020

Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy

1 reference

12 December 2020

Natural history of Ullrich congenital muscular dystrophy.

1 reference

12 December 2020

Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors.

1 reference

12 December 2020

Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin

1 reference

12 December 2020

Modulation of agrin binding and activity by the CT and related carbohydrate antigens

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy

1 reference

12 December 2020

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

1 reference

12 December 2020

Phase II/III randomized trial of TCH346 in patients with ALS

1 reference

12 December 2020

Collagen VI related muscle disorders

1 reference

12 December 2020

The alpha7beta1 integrin in muscle development and disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

1 reference

12 December 2020

Molecular cloning of a murine N-acetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen

1 reference

12 December 2020

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

12 December 2020

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

1 reference

12 December 2020

Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular recognition by LARGE is essential for expression of functional dystroglycan

1 reference

12 December 2020

Human laminopathies: nuclei gone genetically awry

1 reference

12 December 2020

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

1 reference

12 December 2020

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

1 reference

12 December 2020

Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies

1 reference

12 December 2020

Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.

1 reference

12 December 2020

Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression

1 reference

12 December 2020

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

The cyclophilin inhibitor Debio-025 shows potent anti-hepatitis C effect in patients coinfected with hepatitis C and human immunodeficiency virus.

1 reference

12 December 2020

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

1 reference

12 December 2020

The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria.

1 reference

12 December 2020

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment

1 reference

12 December 2020

Muscular dystrophies due to defective glycosylation of dystroglycan

1 reference

12 December 2020

Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan

1 reference

12 December 2020

Mutations in the integrin alpha7 gene cause congenital myopathy

1 reference

12 December 2020

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

12 December 2020

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

1 reference

12 December 2020

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Dystroglycan: from biosynthesis to pathogenesis of human disease.

1 reference

12 December 2020

Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy

1 reference

12 December 2020

Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Transforming growth factor-β1 and fibrosis in congenital muscular dystrophies

1 reference

12 December 2020

10.1007/S11910-010-0092-8

Identifiers

DOI

1 reference

22 August 2017

1 reference

PubMed ID

20425232