(Q44239689)

1 December 2017

title

The spectrum of pathology in central core disease (English)

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ORCID Public Data File 2021

1 December 2017

0 references

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Rosaline Quinlivan

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ORCID Public Data File 2021

author name string

Sewry CA

1

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1 December 2017

Müller C

2

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1 December 2017

Davis M

3

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1 December 2017

Dwyer JS

4

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1 December 2017

Dove J

5

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1 December 2017

Evans G

6

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1 December 2017

Schröder R

7

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1 December 2017

Fürst D

8

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1 December 2017

Helliwell T

9

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1 December 2017

Laing N

10

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1 December 2017

Quinlivan RC

11

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1 December 2017

language of work or name

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1 December 2002

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1 December 2017

published in

Neuromuscular Disorders

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1 December 2017

volume

12

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1 December 2017

issue

10

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1 December 2017

page(s)

930-938

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

1 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

A new congenital non-progressive myopathy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Central core disease or not? Observations on a family with a non-progressive myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Voltage-gated ion channels and hereditary disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

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/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Immunocytochemical analysis of human muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

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/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

A calcineurin-dependent transcriptional pathway controls skeletal muscle fiber type

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

MEF2 responds to multiple calcium-regulated signals in the control of skeletal muscle fiber type

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Calcineurin controls nerve activity-dependent specification of slow skeletal muscle fibers but not muscle growth

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

The distribution of intermediate filament protein (skeletin) in normal and diseased human skeletal muscle--an immunohistochemical and electron-microscopic study

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7 January 2021

Expression of cytoskeleton proteins in central core disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Congenital myopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Association of mitochondria with plectin and desmin intermediate filaments in striated muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900135-9

7 January 2021

10.1016/S0960-8966(02)00135-9

Identifiers

DOI

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1 December 2017

1 reference