Leonardo Caporali

20PUBLICATIONS
133CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsMedical infection agents (incl. prions)Cell and nuclear divisionMedical virologyAnthropological genetics
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Publications (20)

|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

|Nov 14, 2025
Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Claudio Fiorini, Neringa Jurkute, Alessandra Torraco

|Feb 21, 2025
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA.

Marco Barresi, Giulia Dal Santo, Rossella Izzo

|Feb 13, 2025
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome <i>b</i> (<i>MT-CYB</i>) Gene.

Concetta Valentina Tropeano, Chiara La Morgia, Alessandro Achilli

|Sep 21, 2023
Recessive <i>MECR</i> pathogenic variants cause an LHON-like optic neuropathy.

Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla

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Frequent Collaborators

7 joint publications

Valerio Carelli

6 joint publications

Chiara La Morgia

3 joint publications

Alessandro Achilli

3 joint publications

Alessandra Maresca