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Publications by Anne-Marie Orsino
Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome
Circulation
Cardiovascular Medicine
Physiology
Cardiology
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Mechanistic Insights Into the Interaction of the MOG1 Protein With the Cardiac Sodium Channel Nav1.5 Clarify the Molecular Basis of Brugada Syndrome
Journal of Biological Chemistry
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Compound Heterozygous Mutations in the Muscle Chloride Channel Gene (CLCN1) in a Japanese Family With Thomsen’s Disease
Clinical Neurology
Neurology
Enhanced Classification of Brugada Syndrome–Associated and Long-Qt Syndrome–Associated Genetic Variants in theSCN5A-Encoded Nav1.5 Cardiac Sodium ChannelCLINICAL PERSPECTIVE
Circulation: Cardiovascular Genetics
Human Heart Failure Is Associated With Abnormal C-Terminal Splicing Variants in the Cardiac Sodium Channel
Circulation Research
Cardiovascular Medicine
Physiology
Cardiology
Sodium-Channel Blocker Challenge in the Familial Screening of Brugada Syndrome: Safety and Predictors of Positivity
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Cardiovascular Medicine
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Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient With Atypical Pantothenate Kinase Associated Neurodegeneration
Journal of Movement Disorders
Heterozygous Mylk3 Knockout Mice Partially Recapitulate Human DCM With Heterozygous MYLK3 Mutations
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Cardiac Magnetic Resonance Findings in Asymptomatic Patients With Brugada Syndrome
Journal of Cardiovascular Magnetic Resonance
Nuclear Medicine
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Ultrasound Technology
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Family Practice
Radiological
Cardiovascular Medicine
Imaging
First Cases of MPV17 Related Mitochondrial DNA Depletion Syndrome With Compound Heterozygous Mutations in p.R50Q/p.R50W: A Case Report
Hepatoma Research
