TONDUTI, DAVIDE

TONDUTI, DAVIDE  

Dipartimento di Scienze Biomediche e Cliniche  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum 2013 Tonduti D + Article (author) -
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 2015 Tonduti, Davide + Article (author) -
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations 2017 Tonduti, Davide + Article (author) -
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients 2021 Mura, EleonoraVeggiotti, PierangeloTonduti, Davide + Article (author) -
Altered PLP1 splicing causes hypomyelination of early myelinating structures 2015 Tonduti D + Article (author) -
Bilateral Striatal Necrosis in Two Subjects With Aicardi-Goutieres Syndrome due to Mutations in ADAR1 (AGS6) 2014 Tonduti D + Article (author) -
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies 2014 D. Tonduti + Article (author) -
Calcifying leukoencephalopathies: new overlapping phenotypes 2012 Tonduti D + Article (author) -
Case definition and classification of leukodystrophies and leukoencephalopathies 2015 Tonduti D + Article (author) -
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 2021 Veggiotti, PierangeloZuccotti, Gian VincenzoTonduti, Davide + Article (author) -
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders 2015 D. TondutiD. Ghezzi + Article (author) -
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 2020 Tonduti D. + Article (author) -
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 2014 Tonduti D + Article (author) -
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 2015 Tonduti D + Article (author) -
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 2010 Tonduti D + Article (author) -
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 2011 M. RanieriD. RonchiA. BordoniV. LucchiniF. FortunatoE. FassoneD. TondutiM. RipoloneS. CortiP. VeggiottiG.P. Comi + Article (author) -
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report 2011 D. RonchiA. CosiD. TondutiA. BordoniF. FortunatoP. VeggiottiG.P. Comi + Article (author) -
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants 2019 Tonduti, Davide + Article (author) -
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience 2019 Tonduti, DavideMilani, Donatella + Article (author) -
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder 2023 Tonduti, DavideGomez, MariaLamantea, EleonoraGhezzi, Daniele + Article (author) -