(Q24675329)

1

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C R Muller

2

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M Davis

3

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N G Laing

4

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G A Evans

5

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J Dwyer

6

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J Dove

7

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A P Roberts

8

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C A Sewry

Archives of Disease in Childhood

9

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language of work or name

English

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publication date

December 2003

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published in

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volume

88

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issue

12

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page(s)

1051-5

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cites work

The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

A new congenital non-progressive myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

Ryanodine receptor mutations in malignant hyperthermia and central core disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

Genetics and pathogenesis of malignant hyperthermia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

Masseter spasm and malignant hyperthermia: a retrospective review of a hospital-based pediatric otolaryngology practice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

Malignant hyperpyrexia in Australia and New Zealand.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

The spectrum of pathology in central core disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1719384

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14670767

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14670767

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14670767