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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 | 251 | 2015 |
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 | 233 | 2010 |
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 | 209 | 2013 |
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 | 172 | 2011 |
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 | 135 | 2020 |
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 | 112 | 2019 |
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 | 93 | 2016 |
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 | 83 | 2014 |
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 | 82 | 2020 |
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 | 80 | 2016 |
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 | 75 | 2022 |
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 | 73 | 2019 |
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 | 70 | 2020 |
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 | 64 | 2017 |
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 | 63 | 2013 |
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 | 61 | 2014 |
Leukodystrophy overview–retired chapter, for historical reference only A Vanderver, D Tonduti, R Schiffmann, J Schmidt, MS van der Knaap | 58 | 2014 |
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 | 53 | 2011 |
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 | 48 | 2020 |