Elisa Baschiera - Publications

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease.

Journal: Cell death & disease

Published: July 22, 2025

Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction.

Journal: Nature communications

Published: April 29, 2024

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: March 22, 2024

Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.

Journal: Cell death & disease

Published: January 29, 2024

Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.

Journal: Cell death & disease

Published: July 25, 2023

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.

Journal: Cancers

Published: February 01, 2021

The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.

Journal: Free radical biology & medicine

Published: January 25, 2021

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.

Journal: Oxidative medicine and cellular longevity

Published: February 03, 2019