A multicentre study of patients with Timothy syndrome-Reference-Cited by-同舟云学术

A multicentre study of patients with Timothy syndrome

Published:2017-03-24 Issue:2 Volume:20 Page:377-385
ISSN:1099-5129
Container-title:EP Europace
language:en
Short-container-title:

Author:

Walsh Mark A,Turner Christian,Timothy Katherine W,Seller Neil,Hares Dominic L,James Andrew F,Hancox Jules C,Uzun Orhan,Boyce Dean,Stuart Alan G,Brennan Paul,Sarton Caroline,McGuire Karen,Newbury-Ecob Ruth A,Mcleod Karen

Publisher

Oxford University Press (OUP)

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Link

http://academic.oup.com/europace/article-pdf/20/2/377/23794750/euw433.pdf

Reference24 articles.

1. Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices;Erxleben;Proc Natl Acad Sci U S A,2006

2. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations;Splawski;Proc Natl Acad Sci U S A,2005

3. Novel Timothy syndrome mutation leading to increase in CACNA1C window current;Boczek;Heart Rhythm,2015

4. L-type Ca(2+) current in ventricular cardiomyocytes;Benitah;J Mol Cell Cardiol,2010

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1. An unruly case of functional 2:1 atrioventricular block;Heart Rhythm;2024-08

2. A Natural History Study of Timothy Syndrome;2024-05-21

3. International Cohort of Neonatal Timothy Syndrome;Neonatology;2024

4. Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome;2023-06-19

5. Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant;Circulation: Genomic and Precision Medicine;2023-06