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

Giuseppina Conteduca

6PUBLICATIONS

15CO-AUTHORS

NeurogeneticsCellular nervous systemDevelopmental genetics (incl. sex determination)Gene mappingSensory systems

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (6)

Sort by Publication Date:

|Oct 29, 2025

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi

|Sep 28, 2024

Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.

Giuseppina Conteduca, Davide Cangelosi, Chiara Baldo

|Apr 28, 2023

Exome Analysis Reveals Novel Missense and Deletion Variants in the <i>CC2D2A</i> Gene as Causative of Joubert Syndrome.

Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale

|Feb 25, 2023

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Barbara Testa, Giuseppina Conteduca, Marina Grasso

|Jul 27, 2022

<i>NSD1</i> Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.

Giuseppina Conteduca, Davide Cangelosi, Simona Coco

|Jun 06, 2022

Single-nucleotide polymorphisms in 3'-untranslated region inducible costimulator gene and the important roles of miRNA in alopecia areata.

G Conteduca, A Rossi, F Megiorni

Pageof 1

Frequent Collaborators

5 joint publications

Domenico Coviello

3 joint publications

Chiara Baldo

3 joint publications

Barbara Testa

2 joint publications

Gilberto Filaci

2 joint publications

Rute Luísa Cabrita Pinto

2 joint publications

Silvia Viaggi

1 joint publications

Davide Cangelosi

1 joint publications

Simona Coco

1 joint publications

Francesca Lantieri

1 joint publications

Alessia Arado

Frequent Collaborators

5 joint publications

Domenico Coviello

3 joint publications

Chiara Baldo

3 joint publications

Barbara Testa

2 joint publications

Gilberto Filaci

Top Related Videos

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on : Dec 05, 2020

A Time-Efficient Fluorescence Spectroscopy-Based Assay for Evaluating Actin Polymerization Status in Rodent and Human Brain Tissues

A Time-Efficient Fluorescence Spectroscopy-Based Assay for Evaluating Actin Polymerization Status in Rodent and Human Brain Tissues

Published on : Jun 03, 2021

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

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on : Dec 05, 2020

A Time-Efficient Fluorescence Spectroscopy-Based Assay for Evaluating Actin Polymerization Status in Rodent and Human Brain Tissues

A Time-Efficient Fluorescence Spectroscopy-Based Assay for Evaluating Actin Polymerization Status in Rodent and Human Brain Tissues

Published on : Jun 03, 2021

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