Central core disease (Q21202972)

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Language	Label	Description	Also known as
English	Central core disease	scientific article

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scholarly article

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2 references

13 March 2019

25 April 2019

Central core disease (English)

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central core myopathy

2 references

13 March 2019

25 April 2019

Heinz Jungbluth

1

object named as

Heinz Jungbluth

author given names

Heinz

author last names

Jungbluth

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

15 May 2007

2 references

13 March 2019

25 April 2019

Orphanet Journal of Rare Diseases

2 references

13 March 2019

25 April 2019

2

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1

0 references

25

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copyright license

Creative Commons Attribution 2.0 Generic

2 references

Europe PubMed Central

13 March 2019

Europe PubMed Central

25 April 2019

copyright status

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on focus list of Wikimedia project

0 references

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

19 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

19 March 2017

Central-core disease and malignant hyperpyrexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

19 March 2017

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

19 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

10 May 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Anaesthetic deaths in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

A new congenital non-progressive myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Regulation of mammalian ryanodine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Genetics and pathogenesis of malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Refined genetic localization for central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Central core disease of muscle with focal wasting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Three-dimensional architecture of the calcium channel/foot structure of sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

12 September 2017

Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

27 September 2017

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

27 September 2017

Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

27 September 2017

Mutation of divergent region 1 alters caffeine and Ca(2+) sensitivity of the skeletal muscle Ca(2+) release channel (ryanodine receptor).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

27 September 2017

Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

27 September 2017

Biochemical changes in malignant hyperpyrexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

27 September 2017

Malignant Hyperthermia and Central Core Disease in a Child With Congenital Dislocating Hips

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

27 September 2017

Cross-linking analysis of the ryanodine receptor and alpha1-dihydropyridine receptor in rabbit skeletal muscle triads.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

Dyspedic mouse skeletal muscle expresses major elements of the triadic junction but lacks detectable ryanodine receptor protein and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

Central core disease. Clinical features in 13 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Magnetic resonance imaging of muscle in nemaline myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Pilot trial of salbutamol in central core and multi-minicore diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

The prognostic value of the muscle biopsy in the floppy infant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

The spectrum of pathology in central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Expression of cytoskeleton proteins in central core disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Orthopaedic aspects of central core disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887524

29 November 2018

Central core disease. A study of clinically unaffected muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital dislocation of the hip associated with central core disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Central core disease: clinical and pathological evidence of progression within a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Central core disease and malignant hyperthermia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endurance exercise training in a patient with central core disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-progressive central core disease with severe congenital scoliosis: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrasound imaging and directed needle biopsy in the diagnosis of selective involvement in muscle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of inherited neuromuscular disease in Northern Ireland

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nemaline rod and central core disease: a coexisting Z-band myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Obstetric Aspects in Women With Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, and Congenital Myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of immunocytochemistry in congenital myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle Target Fibres, a Newly Recognized Sign of Denervation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oxidative enzymes and phosphorylase in central-core disease of muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the gene for central core disease to chromosome 19

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetics of malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sporadic case of central core disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Observations on central core disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17504518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-2-25

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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