(Q57398182)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12467737%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

title

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

1 reference

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15 December 2019

2

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15 December 2019

author name string

K M D Bushby

series ordinal

1

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15 December 2019

publication date

1 January 2003

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15 December 2019

published in

Neuromuscular Disorders

1 reference

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15 December 2019

volume

13

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15 December 2019

issue

1

1 reference

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15 December 2019

page(s)

80-90

1 reference

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Report on the 12th ENMC sponsored international workshop--the "limb-girdle" muscular dystrophies

15 December 2019

cites work

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7 January 2021

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

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7 January 2021

66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

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7 January 2021

Myotilin is mutated in limb girdle muscular dystrophy 1A

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7 January 2021

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

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7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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7 January 2021

Caveolin-3 in muscular dystrophy

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7 January 2021

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

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7 January 2021

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

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7 January 2021

Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.

1 reference

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7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

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7 January 2021

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

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7 January 2021

1 reference

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7 January 2021

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

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7 January 2021

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

1 reference

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7 January 2021

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

1 reference

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7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

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7 January 2021

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Structure and physiological function of calpains

1 reference

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7 January 2021

The structure of calpain.

1 reference

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7 January 2021

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

1 reference

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7 January 2021

Tissue-specific expression and alpha-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs

1 reference

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7 January 2021

Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Structural basis for activation of the titin kinase domain during myofibrillogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Telethonin and other new proteins of the Z-disc of skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

Members of the PIAS family act as SUMO ligases for c-Jun and p53 and repress p53 activity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900183-9

7 January 2021

10.1016/S0960-8966(02)00183-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12467737%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference