Limb-girdle muscular dystrophies--from genetics to molecular pathology (Q35714351)

9 August 2017

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title

Limb-girdle muscular dystrophies--from genetics to molecular pathology (English)

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9 August 2017

Laval SH

1

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9 August 2017

Bushby KM

series ordinal

2

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9 August 2017

language of work or name

English

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publication date

1 April 2004

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Neuropathology and Applied Neurobiology

9 August 2017

published in

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9 August 2017

volume

30

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9 August 2017

issue

2

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9 August 2017

page(s)

91-105

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

9 August 2017

cites work

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Animal models for muscular dystrophy: valuable tools for the development of therapies

21 January 2018

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Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models.

21 January 2018

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Titin and nebulin: protein rulers in muscle?

21 January 2018

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

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Myotilin is mutated in limb girdle muscular dystrophy 1A

21 January 2018

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myotilin Mutation found in second pedigree with LGMD1A

21 January 2018

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Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

21 January 2018

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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

21 January 2018

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

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Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

21 January 2018

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Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans

21 January 2018

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Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

21 January 2018

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Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines

21 January 2018

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A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

21 January 2018

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Crowded little caves: structure and function of caveolae

21 January 2018

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Caveolin-3 is not an integral component of the dystrophin glycoprotein complex

21 January 2018

1 reference

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Caveolin-3 associates with developing T-tubules during muscle differentiation

21 January 2018

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Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

21 January 2018

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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

21 January 2018

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Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

21 January 2018

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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

21 January 2018

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Consequences of a novel caveolin-3 mutation in a large German family

21 January 2018

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Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype

21 January 2018

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Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members

21 January 2018

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Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency

21 January 2018

1 reference

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Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities

21 January 2018

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21 January 2018

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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

21 January 2018

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The third human FER-1-like protein is highly similar to dysferlin.

21 January 2018

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A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

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Myoferlin, a candidate gene and potential modifier of muscular dystrophy

21 January 2018

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Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains

21 January 2018

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Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

21 January 2018

1 reference

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Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

21 January 2018

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Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

21 January 2018

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The earliest pathologic alterations in dysferlinopathy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Dysferlin is a plasma membrane protein and is expressed early in human development

21 January 2018

1 reference

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Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Coping with the inevitable: how cells repair a torn surface membrane

21 January 2018

1 reference

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Defective membrane repair in dysferlin-deficient muscular dystrophy

21 January 2018

1 reference

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Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

21 January 2018

1 reference

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Assembly of the sarcoglycan complex. Insights for muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Sarcoglycans in vascular smooth and striated muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

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/10.1111%2FJ.1365-2990.2004.00555.X

Defective glycosylation in muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Glycosylation defects in inherited muscle disease

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

The basement membrane/basal lamina of skeletal muscle

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2004.00555.X

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

21 January 2018

1 reference

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10.1111/J.1365-2990.2004.00555.X

21 January 2018

Identifiers

DOI

1 reference

9 August 2017

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