Valerio Carelli

23PUBLICATIONS
201CO-AUTHORS
Developmental genetics (incl. sex determination)Medical biochemistry - lipidsMedical molecular engineering of nucleic acids and proteinsMedical infection agents (incl. prions)Neurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (23)

|Sep 15, 2026
Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder.

|Aug 13, 2026
Lipidomics Based on HILIC-ESI-HRMS Reveal Subtle Changes in the Mitochondrial Phospholipidome of Mouse Embryonic Fibroblasts Expressing Pathogenic Variants of Human OPA1 Protein.

|Jun 08, 2026
Expanding the landscape of tRNA pathogenic variants in mitochondrial DNA.

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Oct 22, 2025
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant.

Micol Avenali, Carlo Alberto Artusi, Roberto Cilia

|Mar 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Sara Carli, Anna Levarlet, Daria Diodato

Pageof 4

Frequent Collaborators

8 joint publications

Leonardo Caporali

7 joint publications

Chiara La Morgia

3 joint publications

Rocco Liguori

3 joint publications

Martina Romagnoli