(Q33564704)

28 July 2017

title

Characterization and temporal development of cores in a mouse model of malignant hyperthermia (English)

1 reference

28 July 2017

main subject

malignant hyperthermia

1 reference

Susan L Hamilton

4

0 references

Clara Franzini-Armstrong

6

object named as

Clara Franzini-Armstrong

1 reference

28 July 2017

Simona Boncompagni

1

1 reference

28 July 2017

Ann E Rossi

2

1 reference

28 July 2017

Massimo Micaroni

3

1 reference

28 July 2017

Robert T Dirksen

5

1 reference

28 July 2017

Feliciano Protasi

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

4 December 2009

1 reference

Proceedings of the National Academy of Sciences of the United States of America

28 July 2017

published in

1 reference

28 July 2017

volume

106

1 reference

28 July 2017

issue

51

1 reference

28 July 2017

page(s)

21996-22001

1 reference

A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Mitochondria are linked to calcium stores in striated muscle by developmentally regulated tethering structures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

28 July 2018

Multi-minicore Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Calcium, ATP, and ROS: a mitochondrial love-hate triangle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

CENTRAL "CORE" DISEASE OF SKELETAL MUSCLE. ULTRASTRUCTURAL AND CYTOCHEMICAL OBSERVATIONS IN TWO CASES

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

A new congenital non-progressive myopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Central core disease. Clinical features in 13 patients.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Longitudinal fibre splitting in neurogenic muscular disorders--its relation to the pathogenesis of "myopathic" change

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Central core disease-an investigation of a rare muscle cell abnormality.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

The spectrum of pathology in central core disease

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799858

REGULATION BY CALCIUM OF THE CONTRACTION AND RELAXATION OF MUSCLE FIBERS

31 October 2018

1 reference

12 December 2020

Oxidative enzymes and phosphorylase in central-core disease of muscle

1 reference

12 December 2020

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules

1 reference

12 December 2020

Malignant hyperthermia

1 reference

12 December 2020

Oxidative capacity distribution in skeletal muscle fibers of the rat

1 reference

12 December 2020

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0911496106

1 reference

28 July 2017

0 references

1 reference

28 July 2017

1 reference