(Q39008908)

8 September 2017

title

RYR1-related myopathies: a wide spectrum of phenotypes throughout life (English)

1 reference

8 September 2017

4

1 reference

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11 June 2020

author name string

M Snoeck

1

1 reference

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11 June 2020

B G M van Engelen

2

1 reference

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11 June 2020

B Küsters

3

1 reference

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11 June 2020

R Meijer

5

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11 June 2020

J P F Molenaar

6

1 reference

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11 June 2020

J Raaphorst

7

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11 June 2020

C C Verschuuren-Bemelmans

8

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11 June 2020

C S M Straathof

9

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11 June 2020

L T L Sie

10

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11 June 2020

I F de Coo

11

1 reference

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11 June 2020

W L van der Pol

12

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11 June 2020

M de Visser

13

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11 June 2020

H Scheffer

14

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11 June 2020

S Treves

15

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11 June 2020

H Jungbluth

16

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11 June 2020

N C Voermans

17

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11 June 2020

E-J Kamsteeg

18

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11 June 2020

publication date

11 May 2015

1 reference

European Journal of Neurology

8 September 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25960145%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

22

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11 June 2020

issue

7

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11 June 2020

page(s)

1094-1112

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25960145%20AND%20SRC:MED&resulttype=core&format=json

Characterization of recessive RYR1 mutations in core myopathies

11 June 2020

cites work

1 reference

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

21 January 2018

1 reference

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in RYR1 in malignant hyperthermia and central core disease

21 January 2018

1 reference

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

21 January 2018

1 reference

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

21 January 2018

1 reference

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

21 January 2018

1 reference

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

21 January 2018

1 reference

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

21 January 2018

1 reference

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States

21 January 2018

1 reference

Genotype-phenotype correlations in recessive RYR1-related myopathies

21 January 2018

1 reference

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

21 January 2018

1 reference

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

21 January 2018

1 reference

Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin

21 January 2018

1 reference

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

21 January 2018

1 reference

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

21 January 2018

1 reference

Malignant hyperthermia: a review of published cases

21 January 2018

1 reference

Approach to the diagnosis of congenital myopathies

21 January 2018

1 reference

RyR1-specific requirement for depolarization-induced Ca2+ sparks in urinary bladder smooth muscle

21 January 2018

1 reference

Heterogeneous gene expression and functional activity of ryanodine receptors in resistance and conduit pulmonary as well as mesenteric artery smooth muscle cells

21 January 2018

1 reference

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

21 January 2018

1 reference

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

21 January 2018

1 reference

Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.

21 January 2018

1 reference

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

An integrated diagnosis strategy for congenital myopathies.

21 January 2018

1 reference

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

21 January 2018

1 reference