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davide tonduti
davide tonduti
Unit of Pediatric Neurology, C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy
Verified email at asst-fbf-sacco.it - Homepage
Title
Cited by
Cited by
Year
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
5922015
Case definition and classification of leukodystrophies and leukoencephalopathies
A Vanderver, M Prust, D Tonduti, F Mochel, HM Hussey, G Helman, ...
Molecular genetics and metabolism 114 (4), 494-500, 2015
2512015
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
L Brun, LH Ngu, WT Keng, GS Ch'Ng, YS Choy, WL Hwu, WT Lee, ...
Neurology 75 (1), 64-71, 2010
2332010
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
C Simons, NI Wolf, N McNeil, L Caldovic, JM Devaney, A Takanohashi, ...
The American Journal of Human Genetics 92 (5), 767-773, 2013
2092013
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
M Tétreault, K Choquet, S Orcesi, D Tonduti, U Balottin, M Teichmann, ...
The American Journal of Human Genetics 89 (5), 652-655, 2011
1722011
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
C Uggenti, A Lepelley, M Depp, AP Badrock, MP Rodero, MT El-Daher, ...
Nature Genetics 52 (12), 1364-1372, 2020
1352020
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
S Groeneweg, RP Peeters, C Moran, A Stoupa, F Auriol, D Tonduti, ...
The Lancet Diabetes & Endocrinology 7 (9), 695-706, 2019
1122019
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder
G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ...
The American Journal of Human Genetics 99 (6), 1229-1244, 2016
932016
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
A Vanderver, D Tonduti, I Kahn, J Schmidt, L Medne, J Vento, ...
American journal of medical genetics Part A 164 (3), 627-633, 2014
832014
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
GI Rice, S Park, F Gavazzi, LA Adang, LA Ayuk, L Van Eyck, L Seabra, ...
Human mutation 41 (4), 837-849, 2020
822020
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
R La Piana, C Uggetti, F Roncarolo, A Vanderver, I Olivieri, D Tonduti, ...
Neurology 86 (1), 28-35, 2016
802016
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I …
KC Gedik, L Lamot, M Romano, E Demirkaya, D Piskin, S Torreggiani, ...
Annals of the Rheumatic Diseases 81 (5), 601-613, 2022
752022
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations
G Remerand, O Boespflug‐Tanguy, D Tonduti, R Touraine, D Rodriguez, ...
Developmental Medicine & Child Neurology 61 (12), 1439-1447, 2019
732019
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ...
The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020
702020
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
LA Adang, O Sherbini, L Ball, M Bloom, A Darbari, H Amartino, D DiVito, ...
Molecular genetics and metabolism 122 (1-2), 18-32, 2017
642017
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features
D Tonduti, A Vanderver, A Berardinelli, JL Schmidt, CD Collins, F Novara, ...
Journal of child neurology 28 (6), 795-800, 2013
632013
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
RL Piana, D Tonduti, HG Dressman, JL Schmidt, J Murnick, B Brais, ...
Journal of child neurology 29 (2), 214-220, 2014
612014
Leukodystrophy overview–retired chapter, for historical reference only
A Vanderver, D Tonduti, R Schiffmann, J Schmidt, MS van der Knaap
582014
COL4A1 mutations associated with a characteristic pattern of intracranial calcification
J Livingston, D Doherty, S Orcesi, D Tonduti, A Piechiecchio, R La Piana, ...
Neuropediatrics 42 (06), 227-233, 2011
532011
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics 106 (4), 570-583, 2020
482020
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