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

Stéphanie Bauché

3PUBLICATIONS

11CO-AUTHORS

Neurology and neuromuscular diseasesGene and molecular therapy

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|Jul 01, 2026

AGRN-, LRP4-, MUSK-Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms.

|Mar 04, 2021

New recessive mutations in <i>SYT2</i> causing severe presynaptic congenital myasthenic syndromes.

Stéphanie Bauché, Alain Sureau, Damien Sternberg

|Jul 17, 2017

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg

Pageof 1

Frequent Collaborators

1 joint publications

Alain Sureau

1 joint publications

Damien Sternberg

1 joint publications

John Rendu

1 joint publications

Denis Furling

1 joint publications

Antoinette Bernabe Gelot

1 joint publications

Sandra Whalen

1 joint publications

Emmanuel Fournier

1 joint publications

Ganaelle Remerand

1 joint publications

Bertrand Fontaine

1 joint publications

Bruno Eymard

Frequent Collaborators

1 joint publications

Alain Sureau

1 joint publications

Damien Sternberg

1 joint publications

John Rendu

1 joint publications

Denis Furling