Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome (Q34739919)

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English	Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome	scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

title

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome (English)

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stated in

Europe PubMed Central

PMC publication ID

4271450

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

main subject

multiple pterygium syndrome

1 reference

based on heuristic

inferred from title

pterygium

1 reference

based on heuristic

inferred from title

author

Neil V Morgan

series ordinal

8

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stated in

Europe PubMed Central

PMC publication ID

4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Gijs van Haaften

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10

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Europe PubMed Central

PMC publication ID

4271450

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24 February 2020

Eamonn R Maher

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14

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Eamonn R Maher

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Europe PubMed Central

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

author name string

Arthur B McKie

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1

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Europe PubMed Central

PMC publication ID

4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

Atif Alsaedi

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2

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Europe PubMed Central

PMC publication ID

4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Julie Vogt

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3

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Europe PubMed Central

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Kyra E Stuurman

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4

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Marjan M Weiss

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5

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4271450

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24 February 2020

Hassan Shakeel

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6

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Louise Tee

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7

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Europe PubMed Central

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Peter G J Nikkels

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9

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Europe PubMed Central

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Soo-Mi Park

series ordinal

11

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stated in

Europe PubMed Central

PMC publication ID

4271450

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

Jasper J van der Smagt

series ordinal

12

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Europe PubMed Central

PMC publication ID

4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

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24 February 2020

Marianna Bugiani

series ordinal

13

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Europe PubMed Central

PMC publication ID

4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

publication date

5 December 2014

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Europe PubMed Central

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

published in

Acta Neuropathologica Communications

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Europe PubMed Central

PMC publication ID

4271450

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retrieved

24 February 2020

volume

2

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Europe PubMed Central

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4271450

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24 February 2020

page(s)

148

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4271450

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

copyright license

Creative Commons Attribution 4.0 International

start time

1 December 2014

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stated in

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families

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Genotype-phenotype correlations in recessive RYR1-related myopathies

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7 July 2018

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

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Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

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Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

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Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families

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Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?

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reference URL

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25476234

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based on heuristic

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Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis

1 reference

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reference URL

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25476234

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/PREACCEPT-4966689571395352

1 reference

stated in

Europe PubMed Central

PubMed publication ID

25476234

retrieved

4 August 2017

10.1186/S40478-014-0148-0

1 reference

stated in

Europe PubMed Central

PMC publication ID

4271450

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

PMC publication ID

4271450

1 reference

stated in

Europe PubMed Central

PMC publication ID

4271450

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

PubMed publication ID

25476234

1 reference

stated in

Europe PubMed Central

PMC publication ID

4271450

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 February 2020

ResearchGate publication ID

269187417

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