(Q43722113)

English

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

scientific article published in September 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

malignant hyperthermia

1 reference

based on heuristic

inferred from title

author name string

Sambuughin N

1

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Nelson TE

2

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Jankovic J

3

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Xin C

4

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Meissner G

5

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Mullakandov M

6

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Ji J

7

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Rosenberg H

8

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Sivakumar K

9

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Goldfarb LG

10

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

publication date

1 September 2001

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

6-7

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

530-537

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Current concepts. The malignant hyperthermia syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

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A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A clinical grading scale to predict malignant hyperthermia susceptibility

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI 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://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Skeletal muscle sarcolemma in malignant hyperthermia: evidence for a defect in calcium regulation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics and pathogenesis of malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Discordance between phenotype and genotype in malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Skeletal muscle junctional membrane protein content in pigs with different ryanodine receptor genotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for a role of C-terminal amino acid residues in skeletal muscle Ca2+ release channel (ryanodine receptor) function

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Ryanodine receptor/Ca2+ release channels and their regulation by endogenous effectors

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

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Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900202-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(01)00202-4

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

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