Articles with public access mandates - davide tondutiLearn more
Not available anywhere: 10
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
Mandates: Swiss National Science Foundation
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
Mandates: Fonds de recherche du Québec - Santé
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
Mandates: US National Institutes of Health
Novel and emerging treatments for Aicardi-Goutières syndrome
D Tonduti, E Fazzi, R Badolato, S Orcesi
Expert Review of Clinical Immunology 16 (2), 189-198, 2020
Mandates: Government of Italy
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley syndrome
S Masnada, C Sarret, CE Antonello, A Fadilah, H Krude, E Mura, ...
Molecular Genetics and Metabolism 135 (1), 109-113, 2022
Mandates: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction
B Gardella, M Dominoni, C Caporali, S Cesari, G Fiandrino, S Longo, ...
American Journal of Obstetrics and Gynecology 225 (4), 413. e1-413. e11, 2021
Mandates: Government of Italy
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
S Masnada, S Groenweg, V Saletti, L Chiapparini, B Castellotti, E Salsano, ...
Metabolic Brain Disease 34, 1565-1575, 2019
Mandates: Netherlands Organisation for Health Research and Development
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation
D Tonduti, E Mura, S Masnada, E Bertini, C Aiello, D Zini, L Parmeggiani, ...
Journal of Human Genetics 66 (10), 1035-1037, 2021
Mandates: US National Institutes of Health
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.
I Kraoua, M Romani, D Tonduti, H BenRhouma, G Zorzi, F Zibordi, ...
European Journal of Neurology 23 (4), 2016
Mandates: European Commission, Government of Italy
How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?
D Tonduti, A Pichiecchio, C Uggetti, SM Bova, S Orcesi, C Parazzini, ...
Neurological Sciences 43 (3), 2043-2050, 2022
Mandates: Government of Italy
Available somewhere: 46
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
Mandates: US National Institutes of Health, European Commission
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
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
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
Mandates: US National Institutes of Health, Australian Research Council
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
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
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
Mandates: Cancer Research UK, UK Medical Research Council, National Institute for …
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
Mandates: Netherlands Organisation for Scientific Research, UK Medical Research …
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
Mandates: US National Institutes of Health, National Health and Medical Research …
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
Mandates: US National Institutes of Health, Research Foundation (Flanders), National …
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
Mandates: US National Institutes of Health
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
Mandates: Fonds de recherche du Québec - Santé, European Commission
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