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

Bruno Della-Ripa

3PUBLICATIONS

7CO-AUTHORS

Cardiology (incl. cardiovascular diseases)Other European languagesNeurology and neuromuscular diseases

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|Nov 28, 2024

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Eleanor Broeren, Vanessa Gitau, Alicia Byrne

|Jul 29, 2024

"Ears of the lynx" sign in hereditary spastic paraplegias is not always the same!

Victor Hugo Rocha Marussi, Bruno Della Ripa Rodrigues Assis, Fernando Freua

|Sep 30, 2022

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Fernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega

Pageof 1

Frequent Collaborators

2 joint publications

Fernando Freua

1 joint publications

Victor Hugo Rocha Marussi

1 joint publications

Jonathan Berg

1 joint publications

Jessica Chong

1 joint publications

Shahida Moosa

1 joint publications

Anne O'Donnell-Luria

1 joint publications

Henry Houlden

Frequent Collaborators

2 joint publications

Fernando Freua

1 joint publications

Victor Hugo Rocha Marussi

1 joint publications

Jonathan Berg

1 joint publications

Jessica Chong

Top Related Videos

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

Published on : Aug 24, 2013

Induction and Diverse Assessment Indicators of Experimental Autoimmune Encephalomyelitis

Induction and Diverse Assessment Indicators of Experimental Autoimmune Encephalomyelitis

Published on : Sep 09, 2022

Combining Double Fluorescence <em>In Situ</em> Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Combining Double Fluorescence <em>In Situ</em> Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Published on : Mar 26, 2016

See more related videos

Top Related Videos

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

Published on : Aug 24, 2013

Induction and Diverse Assessment Indicators of Experimental Autoimmune Encephalomyelitis

Induction and Diverse Assessment Indicators of Experimental Autoimmune Encephalomyelitis

Published on : Sep 09, 2022

Combining Double Fluorescence <em>In Situ</em> Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Combining Double Fluorescence <em>In Situ</em> Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Published on : Mar 26, 2016

See more related videos