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Publications by Katherine Fawcett

Familial Childhood-Onset Progressive Cerebellar Syndrome Associated With theATP1A3mutation

Neurology: Genetics

English

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Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

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Familial Adult Onset Myoclonic Epilepsy Associated With Migraine

Seizure : the journal of the British Epilepsy Association

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Childhood‐onset Cerebellar Ataxia in Japan: A Questionnaire‐based Survey

Brain and Behavior

Behavioral Neuroscience

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GATA2 Is Associated With Familial Early-Onset Coronary Artery Disease

Molecular Biology

Cancer Research

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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

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Non-Progressive Cerebellar Ataxia With Intellectual Disability

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Anti-CCP Antibodies Are Not Associated With Familial Mediterranean Fever in Childhood

International Journal of Rheumatology

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Novel P397S MAPT Variant Associated With Late Onset and Slow Progressive Frontotemporal Dementia

Annals of Clinical and Translational Neurology

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Progressive Familial Intrahepatic Cholestasis

English