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Issues

Special Issue: Translating Multiscale Research in Rare Disease

A MODEL FOR LIFE

THE PATIENT'S VOICE

EDITOR'S CHOICE

RESEARCH ARTICLES

Summary: A mouse model carrying the pathogenic E122K mutation in Eef1a2 exhibits electrographic seizures and early motor abnormalities. Comparative phenotyping reveals a toxic gain-of-function or possible dominant-negative effect.

Editor's choice: Applying physiological mechanical stress to a human induced pluripotent stem cell model of Duchenne muscular dystrophy-related cardiomyopathy produces a biomarker signature similar to that seen in patients.

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