(Q24311805)

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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease (English)

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

1 reference

GOA release 2020-03-11

relaxation of skeletal muscle

1 reference

GOA release 2020-03-11

Peter E Taschner

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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Odermatt A

1

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19 October 2019

Khanna VK

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Busch HF

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Karpati G

5

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Europe PubMed Central

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19 October 2019

Jablecki CK

6

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Europe PubMed Central

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19 October 2019

Breuning MH

7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

MacLennan DH

8

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Europe PubMed Central

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19 October 2019

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publication date

1 October 1996

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Europe PubMed Central

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19 October 2019

Nature Genetics

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Europe PubMed Central

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19 October 2019

14

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Europe PubMed Central

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19 October 2019

2

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Europe PubMed Central

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19 October 2019

191-194

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Europe PubMed Central

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19 October 2019

Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease

1 reference

https://api.crossref.org/works/10.1038/NG1096-191

20 April 2017

Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences

1 reference

https://api.crossref.org/works/10.1038/NG1096-191

20 April 2017

Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

21 January 2018

Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a "hot spot" for recombination at 16p12.

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

21 January 2018

Capacitative calcium entry

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

21 January 2018

Myopathy caused by a deficiency of Ca2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Fast-twitch and slow-twitch/cardiac Ca2+ ATPase genes map to human chromosomes 16 and 12

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Metabolic rates of minke whales (Balaenoptera acutorostrata) in cold water

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Control of muscle contraction

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization and quantification of endoplasmic reticulum Ca(2+)-ATPase isoform transcripts

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Intracellular calcium homeostasis

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Dinucleotide repeat polymorphism at the D16S288 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-191

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG1096-191

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8841193%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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