(Q54046621)

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Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21618644%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21618644%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Pascale Guicheney

4

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Europe PubMed Central

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2 February 2020

12

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2 February 2020

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Nathalie Roux-Buisson

1

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Europe PubMed Central

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2 February 2020

John Rendu

2

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Europe PubMed Central

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2 February 2020

Isabelle Denjoy

3

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2 February 2020

Alice Goldenberg

5

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2 February 2020

Nadine David

6

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2 February 2020

Laurence Faivre

7

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2 February 2020

Olivier Barthez

8

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Europe PubMed Central

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2 February 2020

Gian Antonio Danieli

9

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2 February 2020

Isabelle Marty

10

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2 February 2020

Joel Lunardi

11

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2 February 2020

publication date

5 August 2011

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2 February 2020

1 reference

Europe PubMed Central

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2 February 2020

32

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2 February 2020

9

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2 February 2020

995-999

1 reference

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2 February 2020

Cardiac excitation-contraction coupling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Characterization of human cardiac calsequestrin and its deleterious mutants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Surface plasmon resonance studies prove the interaction of skeletal muscle sarcoplasmic reticular Ca2+ release channel/ryanodine receptor with calsequestrin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

21 January 2018

Familial polymorphic ventricular arrhythmias: a quarter century of successful medical treatment based on serial exercise-pharmacologic testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

7 January 2021

based on heuristic

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Catecholaminergic Polymorphic Ventricular Tachycardia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

7 January 2021

based on heuristic

inferred from DOI database lookup

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21537

7 January 2021

based on heuristic

inferred from DOI database lookup

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