Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. (Q35104636)

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English	Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.	scientific article

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16 January 2020

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene (English)

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16 January 2020

periodic paralysis

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based on heuristic

inferred from title

multiminicore myopathy

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based on heuristic

inferred from title

16

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16 January 2020

Heinz Jungbluth

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16 January 2020

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Michael Hanna

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16 January 2020

Francesco Muntoni

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Francesco Muntoni

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16 January 2020

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Haiyan Zhou

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16 January 2020

Suzanne Lillis

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16 January 2020

Ryan E Loy

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16 January 2020

Farshid Ghassemi

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16 January 2020

Michael R Rose

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16 January 2020

Fiona Norwood

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16 January 2020

Kerry Mills

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16 January 2020

Safa Al-Sarraj

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16 January 2020

Russell J M Lane

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16 January 2020

Lucy Feng

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16 January 2020

Emma Matthews

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16 January 2020

Caroline A Sewry

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16 January 2020

Stephen Abbs

13

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16 January 2020

Stefan Buk

14

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16 January 2020

Robert T Dirksen

17

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16 January 2020

Gerhard Meissner

18

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16 January 2020

publication date

18 January 2010

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16 January 2020

Neuromuscular Disorders

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16 January 2020

20

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16 January 2020

3

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16 January 2020

166-173

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16 January 2020

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

Characterization of recessive RYR1 mutations in core myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

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=3136116

9 July 2018

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=3136116

9 July 2018

Correlating phenotype and genotype in the periodic paralyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

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=3136116

9 July 2018

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=3136116

9 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

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=3136116

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

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=3136116

9 July 2018

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

9 July 2018

150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

27 September 2018

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

27 September 2018

Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

27 September 2018

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

27 September 2018

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

27 September 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=3136116

27 September 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=3136116

27 September 2018

Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136116

27 September 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=3136116

27 September 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=3136116

27 September 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=3136116

27 September 2018

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20080402

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive supranuclear palsy and hyperkalemic periodic paralysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20080402

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The exercise test in periodic paralysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20080402

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Possible regulation of the skeletal muscle ryanodine receptor by a polyubiquitin binding subunit of the 26S proteasome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20080402

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.NMD.2009.12.005

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Europe PubMed Central

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16 January 2020

PMC publication ID

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16 January 2020

PubMed publication ID

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16 January 2020

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