(Q34174854)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12565913%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

title

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12565913%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

main subject

transmembrane protein

0 references

author

Heinz Jungbluth

3

1 reference

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17 December 2019

Kathryn North

5

1 reference

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17 December 2019

Thierry Kuntzer

7

1 reference

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17 December 2019

Aurora Sanchez Diaz

11

1 reference

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17 December 2019

Nigel G Laing

21

1 reference

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17 December 2019

author name string

M R Davis

1

1 reference

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17 December 2019

E Haan

2

1 reference

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17 December 2019

C Sewry

4

1 reference

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17 December 2019

F Muntoni

6

1 reference

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17 December 2019

P Lamont

8

1 reference

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17 December 2019

A Bankier

9

1 reference

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17 December 2019

P Tomlinson

10

1 reference

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17 December 2019

P Walsh

12

1 reference

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17 December 2019

L Nagarajan

13

1 reference

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17 December 2019

C Oley

14

1 reference

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17 December 2019

A Colley

15

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17 December 2019

A Gedeon

16

1 reference

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17 December 2019

R Quinlivan

17

1 reference

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17 December 2019

J Dixon

18

1 reference

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17 December 2019

D James

19

1 reference

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17 December 2019

C R Müller

20

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17 December 2019

publication date

1 February 2003

1 reference

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17 December 2019

published in

Neuromuscular Disorders

1 reference

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17 December 2019

volume

13

1 reference

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17 December 2019

issue

2

1 reference

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17 December 2019

page(s)

151-157

1 reference

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The role of immunocytochemistry in congenital myopathies

17 December 2019

cites work

1 reference

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7 January 2021

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

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7 January 2021

Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study

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7 January 2021

Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th-20th January 2001, Hilversum, The Netherlands.

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7 January 2021

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

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7 January 2021

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

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7 January 2021

Assignment of the gene for central core disease to chromosome 19

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7 January 2021

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

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7 January 2021

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

1 reference

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7 January 2021

Ryanodine receptor mutations in malignant hyperthermia and central core disease

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7 January 2021

Gly341Arg mutation indicating malignant hyperthermia susceptibility:

1 reference

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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

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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

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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

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7 January 2021

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

1 reference

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7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

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7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

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7 January 2021

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

1 reference

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7 January 2021

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

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7 January 2021

Common origin of rods, cores, miniature cores, and focal loss of cross-striations

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7 January 2021

Central core and nemaline rods in the same patient

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7 January 2021

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

1 reference

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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

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7 January 2021

Central core disease. Study of a family with five affected generations

1 reference

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7 January 2021

Fifty year follow-up of a patient with central core disease shows slow but definite progression

1 reference

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7 January 2021

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

1 reference

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

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7 January 2021

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

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7 January 2021

Bandstab: a PCR-based alternative to cloning PCR products

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7 January 2021

High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families

1 reference

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7 January 2021

Identification of Susceptibility to Malignant Hyperpyrexia

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7 January 2021

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

1 reference

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7 January 2021

Luminal loop of the ryanodine receptor: a pore-forming segment?

1 reference

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7 January 2021

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

1 reference

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7 January 2021

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor

1 reference

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7 January 2021

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

1 reference

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7 January 2021

10.1016/S0960-8966(02)00218-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12565913%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

1 reference