Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Ana Töpf

2PUBLICATIONS
36CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (2)

Sort by Publication Date:
|Jul 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jul 27, 2024
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

Alba Segarra-Casas, Vicente A Yépez, German Demidov

Pageof 1

Frequent Collaborators

1 joint publications

Alba Segarra-Casas

1 joint publications

Vicente A Yépez

1 joint publications

Julien Gagneur

1 joint publications

Robert Muni-Lofra

1 joint publications

Volker Straub

1 joint publications

Mridul Johari

1 joint publications

Chiara Folland

1 joint publications

Yoshihiko Saito

1 joint publications

Machteld M Oud

1 joint publications

Jevin M Parmar

Frequent Collaborators

1 joint publications

Alba Segarra-Casas

1 joint publications

Vicente A Yépez

1 joint publications

Julien Gagneur

1 joint publications

Robert Muni-Lofra

Top Related Videos

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles
07:54

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Published on : Nov 05, 2020

5.3K
CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
07:44

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors

Published on : Sep 14, 2019

8.4K
See more related videos

Top Related Videos

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles
07:54

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Published on : Nov 05, 2020

5.3K
CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
07:44

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors

Published on : Sep 14, 2019

8.4K
See more related videos