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Developmental Medicine and Child Neurology|August 15, 2019
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutationsGanaelle Remerand, Odile Boespflug-Tanguy, Davide Tonduti, et al.
Neuropediatrics|January 26, 2013
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothersDavide Tonduti, Anna Pichiecchio, Nicole I Wolf, et al.
European Journal of Medical Genetics|December 12, 2018
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experienceClaudia Ciaccio, Veronica Saletti, Stefano D'Arrigo, et al.
Developmental Medicine and Child Neurology|January 21, 2016
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disordersCatherine Sarret, Jean-Jacques Lemaire, Davide Tonduti, et al.
American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.
Nutrients|February 13, 2025
Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future PerspectivesFrancesca Eletti, Veronica Maria Tagi, Ilenia Pia Greco, et al.
American Journal of Medical Genetics. Part A|February 24, 2015
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular eventsAlice Decio, Davide Tonduti, Anna Pichiecchio, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 31, 2017
SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patientsDavide Tonduti, Federica Invernizzi, Celeste Panteghini, et al.
Neuropediatrics|March 3, 2023
Expanding the Spectrum of NUBPL-Related LeukodystrophyDavide Tonduti, Alberto A Zambon, Daniele Ghezzi, et al.
Neurology. Genetics|May 18, 2026
<i>KIF5C</i>-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic InsightsDavide Politano, Simone Gana, Simona Orcesi, et al.
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