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Publications by Alessandra Cuoretti

Gain-Of-Function Mutation S422L in the KCNJ8-encoded Cardiac KATP Channel Kir6.1 as a Pathogenic Substrate for J-Wave Syndromes

Cardiovascular Medicine

English

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A Gain-Of-Function Mutation in the CLCN2 Chloride Channel Gene Causes Primary Aldosteronism

Nature Genetics

English

Pathogenic Mutation of Spastin Has Gain-Of-Function Effects on Microtubule Dynamics

Journal of Neuroscience

English

Age Dependent Regulation of Cardiac Sodium Channel Gain of Function

Biophysical Journal

English

Drosophila as a Model for Epilepsy: BSS Is a Gain-Of-Function Mutation in the Para Sodium Channel Gene That Leads to Seizures

English

Comparative Gain-Of-Function Effects of the KCNMA1-N999S Mutation on Human BK Channel Properties

Journal of Neurophysiology

English

Electrocardiographic Clues for Understanding J-Wave Syndromes Editorial Commentary

Anatolian journal of cardiology

Cardiovascular Medicine

English

Electrophysiologic Consequences of KATP Gain of Function in the Heart: Conduction Abnormalities in Cantu Syndrome

Cardiovascular Medicine

English

A Gain-Of-Function Mutation in the M-Domain of Cardiac Myosin-Binding Protein-C Increases Binding to Actin

Journal of Biological Chemistry

Molecular Biology

English

A Gain-Of-Function Mutation in theGRIK2gene Causes Neurodevelopmental Deficits

Neurology: Genetics

English