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

Ruben Portier

1PUBLICATIONS

10CO-AUTHORS

Neurogenetics

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (1)

Sort by Publication Date:

|May 10, 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni

Pageof 1

Frequent Collaborators

1 joint publications

James T Peterson

1 joint publications

Mohammed Abdelhameed

1 joint publications

Nourelhoda A Haridy

1 joint publications

Alistair Pagnamenta

1 joint publications

Marcello Scala

1 joint publications

Emmanuelle Schmitt

1 joint publications

Elodie Lacaze

1 joint publications

Henry Houlden

1 joint publications

Konstantinos Ampatzis

1 joint publications

Tyler Mark Pierson

Frequent Collaborators

1 joint publications

James T Peterson

1 joint publications

Mohammed Abdelhameed

1 joint publications

Nourelhoda A Haridy

1 joint publications

Alistair Pagnamenta

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos