(Q24338775)

GOA release 2020-03-11

author

Pascale Richard

7

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Ana Ferreiro

10

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Angela Kaindl

5

object named as

Angela M Kaindl

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author name string

Muriel Herasse

1

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Karine Parain

2

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Isabelle Marty

3

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Nicole Monnier

4

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Jean-Paul Leroy

6

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Jöel Lunardi

8

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Norma B Romero

Journal of Neuropathology & Experimental Neurology

9

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language of work or name

English

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publication date

January 2007

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published in

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volume

66

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issue

1

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page(s)

57-65

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cites work

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

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

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Expression of cytoskeleton proteins in central core disease.

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Patterns of abnormal protein expression in target formations and unstructured cores

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Human skeletal muscle triadin: gene organization and cloning of the major isoform, Trisk 51.

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

The spectrum of pathology in central core disease

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Cloning and characterization of a new isoform of skeletal muscle triadin

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

A new congenital non-progressive myopathy

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Central core disease is due to RYR1 mutations in more than 90% of patients.

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Central core disease: clinical, pathological, and genetic features

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E31802D47CE

7 January 2021