Daniele Ghezzi

33PUBLICATIONS
85CO-AUTHORS
Medical virologyOptometryMedical infection agents (incl. prions)Medical devicesNeurology and neuromuscular diseases
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Publications (33)

|Sep 27, 2025
A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.

Alessia Nasca, Alessia Catania, Andrea Legati

|Apr 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signature.

Fatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov

|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

|Jan 25, 2025
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Martina Magistrati, Luisa Zupin, Eleonora Lamantea

|Jan 02, 2025
E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development.

Michela Di Michele, Aurore Attina, Pierre-François Roux

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