Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Aurélien Perrin

2PUBLICATIONS

9CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (2)

Sort by Publication Date:

|Dec 17, 2024

Congenital Titinopathies Linked to Mutations in <i>TTN</i> Metatranscript-Only Exons.

Aurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic

|Nov 07, 2023

Titin copy number variations associated with dominant inherited phenotypes.

Aurélien Perrin, Corinne Métay, Marco Savarese

Pageof 1

Frequent Collaborators

2 joint publications

Mireille Cossée

1 joint publications

Marco Savarese

1 joint publications

Enrico Silvio Bertini

1 joint publications

Alan H Beggs

1 joint publications

Bjarne Udd

1 joint publications

Corinne Metay

1 joint publications

Héloise Faure-Gautron

1 joint publications

Jocelyn Laporte

1 joint publications

Robert-Yves Carlier

Frequent Collaborators

2 joint publications

Mireille Cossée

1 joint publications

Marco Savarese

1 joint publications

Enrico Silvio Bertini

1 joint publications

Alan H Beggs

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

See more related videos

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

See more related videos