(Q34306197)

1 August 2017

title

The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging (English)

1 reference

1 August 2017

author

Clara Franzini-Armstrong

series ordinal

4

object named as

Clara Franzini-Armstrong

1 reference

1 August 2017

Simona Boncompagni

1

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1 August 2017

Ryan E Loy

series ordinal

2

1 reference

1 August 2017

Robert T Dirksen

series ordinal

3

1 reference

1 August 2017

publication date

21 October 2010

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1 August 2017

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1 August 2017

volume

9

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1 August 2017

issue

6

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1 August 2017

page(s)

958-970

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describes a project that uses

1 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2980556/fullTextXML

inferred from PubMed Central ID database lookup

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Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

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

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An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line

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The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease

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

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Deficiency of alpha-sarcoglycan differently affects fast- and slow-twitch skeletal muscles

21 January 2018

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21 January 2018

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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

28 October 2018

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

28 October 2018

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28 October 2018

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Insulin-like growth factor-1 prevents age-related decrease in specific force and intracellular Ca2+ in single intact muscle fibres from transgenic mice

28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980556

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980556

Ultrastructural changes after concentric and eccentric contractions of human muscle

28 October 2018

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Reflex summation in the ipsilateral spinal flexion reflex

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12 December 2020

Central core disease. A study of clinically unaffected muscle

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12 December 2020

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12 December 2020

10.1111/J.1474-9726.2010.00623.X

Identifiers

DOI

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1 August 2017

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1 August 2017

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