TONDUTI, DAVIDE

TONDUTI, DAVIDE  

Dipartimento di Scienze Biomediche e Cliniche  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 26-apr-2021 Veggiotti, PierangeloZuccotti, Gian VincenzoTonduti, Davide + Article (author) -
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders 1-nov-2015 D. TondutiD. Ghezzi + Article (author) -
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 1-mag-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 1-gen-2011 D. RonchiA. CosiD. TondutiA. BordoniF. FortunatoP. VeggiottiG.P. Comi + Article (author) -
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects 1-gen-2011 D. RonchiA. CosiA. BordoniV. LucchiniF. FortunatoE. FassoneD. TondutiM. RanieriM. RipoloneS. CortiP. VeggiottiG.P. Comi + Conference Object -
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 12-mar-2018 D. TondutiD. Ghezzi + Article (author) -
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al 1-mag-2022 Leidi A.Previtali R.Raviglione F.Carelli S.Tonduti D. + Article (author) -
Cortical malformations and COL4A1 mutation: Three new cases 1-gen-2019 Tonduti D. + Article (author) -
Impact of COVID-19 lockdown in children with neurological disorders in Italy 1-apr-2021 Bova S. M.Basso M.Bianchi M. F.Ferrara G.Mura E.Redaelli M. G.Veggiotti P.Tonduti D.Fiocchi I. + Article (author) -
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 4-apr-2018 Tonduti, DavideGhezzi, Daniele + Article (author) -
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 1-mar-2022 Tonduti, Davide + Article (author) -
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features 1-giu-2013 Tonduti D.Triulzi F. + Article (author) -
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 1-gen-2019 Tonduti, Davide + Article (author) -
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome 1-gen-2022 Mura, EleonoraTonduti, Davide + Article (author) -
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child 1-apr-2022 Tonduti D. + Article (author) -
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring 1-gen-2022 Di Profio, ElisabettaFiore, GiuliaMameli, ChiaraSangiorgio, AriannaZuccotti, Gian VincenzoVeggiotti, PierangeloVerduci, ElviraTonduti, Davide + Article (author) -
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers 1-gen-2013 Tonduti D + Article (author) -
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation 1-gen-2021 Tonduti, Davide + Article (author) -
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency 29-lug-2020 Veggiotti P.Tonduti D. + Article (author) -
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum 1-gen-2021 Veggiotti, PierangeloTonduti, Davide + Article (author) -