Davide Tonduti

20PUBLICATIONS
109CO-AUTHORS
Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesMedical infection agents (incl. prions)Medical virologyMedical biotechnology diagnostics (incl. biosensors)
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Publications (20)

|Jul 17, 2026
Deciphering the molecular impact of ALDH5A1 missense variants in succinic semialdehyde dehydrogenase deficiency through combined in vitro and in silico approaches.

|May 18, 2026
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.

|Feb 06, 2026
Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.

Hemmo A F Yska, Marianne Golse, Damien Galanaud

|Nov 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Romy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky

|Jun 04, 2024
Role of epigenetics and alterations in RNA metabolism in leukodystrophies.

Federica Rey, Letizia Esposito, Erika Maghraby

|May 02, 2024
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

Thaís Armangue, Matthew T Whitehead, Davide Tonduti

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Frequent Collaborators

2 joint publications

Adeline Vanderver

2 joint publications

Caroline Sevin

2 joint publications

Ali Fatemi

2 joint publications

Ettore Salsano