List of works - Katherine Timothy

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

scientific article

A multicentre study of patients with Timothy syndrome.

scientific article published on 24 March 2017

An intronic mutation causes long QT syndrome

scientific article published in September 2004

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

scientific journal article

Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine

scientific article

Clinical Outcomes and Modes of Death in Timothy Syndrome

scholarly article

Compound mutations: a common cause of severe long-QT syndrome

scientific article published on 29 March 2004

Congenital Long QT syndrome

scientific article published on 01 February 2002

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome

scientific article

Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome

scientific article published on 11 April 2013

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

scientific article published in July 2003

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

scientific article

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

scientific article published on 09 September 2011

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

scientific article

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

scientific article published on 6 February 2006

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

article

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

scientific article published in August 2002

List of works by Katherine Timothy

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

A multicentre study of patients with Timothy syndrome.

An intronic mutation causes long QT syndrome

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine

Clinical Outcomes and Modes of Death in Timothy Syndrome

Compound mutations: a common cause of severe long-QT syndrome

Congenital Long QT syndrome

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome

Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia