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

Sara Gibertini

2PUBLICATIONS

30CO-AUTHORS

Iberian languagesAutoimmunity

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (2)

Sort by Publication Date:

|Oct 29, 2025

Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Fernanda Fortunato, Laura Fiocco, Alice Margutti

|Jun 27, 2024

Association between <i>ZASP/LDB3</i> Pro26Ser and Inclusion Body Myopathy.

Daniela Piga, Simona Zanotti, Michela Ripolone

Pageof 1

Frequent Collaborators

2 joint publications

Lorenzo Maggi

1 joint publications

Michela Ripolone

1 joint publications

Laura Napoli

1 joint publications

Andrea Rigamonti

1 joint publications

Stefania Corti

1 joint publications

Monica Sciacco

1 joint publications

Fernanda Fortunato

1 joint publications

Laura Fiocco

1 joint publications

Alice Margutti

1 joint publications

Adele D'Amico

Frequent Collaborators

2 joint publications

Lorenzo Maggi

1 joint publications

Michela Ripolone

1 joint publications

Laura Napoli

1 joint publications

Andrea Rigamonti

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

<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

See more related videos

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

<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

See more related videos