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Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation
Author / Creator:Tonduti, Davide ; Mura, Eleonora ; Masnada, Silvia ; Bertini, Enrico ; Aiello, Chiara ; Zini, Daniela ; Parmeggiani, Lucio ; Cantalupo, Gaetano ; Talenti, Giacomo ; Veggiotti, Pierangelo ; Spaccini, Luigina ; Iascone, Maria ; Parazzini, Cecilia
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.1035-1037
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Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period
Author / Creator:Longo, Stefania ; Caporali, Camilla ; Pisoni, Camilla ; Borghesi, Alessandro ; Perotti, Gianfranco ; Tritto, Giovanna ; Olivieri, Ivana ; La Piana, Roberta ; Tonduti, Davide ; Decio, Alice ; Ariaudo, Giada ; Spairani, Silvia ; Naboni, Cecilia ; Gardella, Barbara ; Spinillo, Arsenio ; Manzoni, Federica ; Tinelli, Carmine ; Stronati, Mauro ; Orcesi, Simona
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-08, Vol.11 (1), p.16316-16316, Article 16316
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How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?
Author / Creator:Tonduti, Davide ; Pichiecchio, Anna ; Uggetti, Carla ; Bova, Stefania Maria ; Orcesi, Simona ; Parazzini, Cecilia ; Chiapparini, Luisa
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2022-03, Vol.43 (3), p.2043-2050
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KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
Author / Creator:Ardissone, Anna ; Tonduti, Davide ; Legati, Andrea ; Lamantea, Eleonora ; Barone, Rita ; Dorboz, Imen ; Boespflug-Tanguy, Odile ; Nebbia, Gabriella ; Maggioni, Marco ; Garavaglia, Barbara ; Moroni, Isabella ; Farina, Laura ; Pichiecchio, Anna ; Orcesi, Simona ; Chiapparini, Luisa ; Ghezzi, Daniele
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.45-45, Article 45
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Ruxolitinib in Aicardi-Goutières syndrome
Author / Creator:Mura, Eleonora ; Masnada, Silvia ; Antonello, Clara ; Parazzini, Cecilia ; Izzo, Giana ; Garau, Jessica ; Sproviero, Daisy ; Cereda, Cristina ; Orcesi, Simona ; Veggiotti, Pierangelo ; Zuccotti, Gianvincenzo ; Dilillo, Dario ; Penagini, Francesca ; Tonduti, Davide
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2021-06, Vol.36 (5), p.859-863
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Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child
Author / Creator:Faraguna, Martha Caterina ; Musto, Francesca ; Crescitelli, Viola ; Iascone, Maria ; Spaccini, Luigina ; Tonduti, Davide ; Fedeli, Tiziana ; Kullmann, Gaia ; Canonico, Francesco ; Cattoni, Alessandro ; Dell'Acqua, Fabiola ; Rizzari, Carmelo ; Gasperini, Serena
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-02, Vol.13 (3), p.442
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Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations
Author / Creator:Garau, Jessica ; Sproviero, Daisy ; Dragoni, Francesca ; Piscianz, Elisa ; Santonicola, Carolina ; Tonduti, Davide ; Carelli, Stephana ; Tesser, Alessandra ; Zuccotti, Gian Vincenzo ; Tommasini, Alberto ; Orcesi, Simona ; Pansarasa, Orietta ; Cereda, Cristina
Publisher:London: Nature Publishing Group UK
Journal title:Cellular & molecular immunology, 2021-06, Vol.18 (6), p.1593-1595
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Encephalopathies with intracranial calcification in children: clinical and genetic characterization
Author / Creator:Tonduti, Davide ; Panteghini, Celeste ; Pichiecchio, Anna ; Decio, Alice ; Carecchio, Miryam ; Reale, Chiara ; Moroni, Isabella ; Nardocci, Nardo ; Campistol, Jaume ; Garcia-Cazorla, Angela ; Perez Duenas, Belen ; Chiapparini, Luisa ; Garavaglia, Barbara ; Orcesi, Simona
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.135-135, Article 135
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Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
Author / Creator:Catania, Alessia ; Ardissone, Anna ; Verrigni, Daniela ; Legati, Andrea ; Reyes, Aurelio ; Lamantea, Eleonora ; Diodato, Daria ; Tonduti, Davide ; Imperatore, Valentina ; Pinto, Anna Maria ; Moroni, Isabella ; Bertini, Enrico ; Robinson, Alan ; Carrozzo, Rosalba ; Zeviani, Massimo ; Ghezzi, Daniele
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2018-05, Vol.63 (5), p.563-568
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Redox Imbalance in Neurological Disorders in Adults and Children
Author / Creator:Rey, Federica ; Berardo, Clarissa ; Maghraby, Erika ; Mauri, Alessia ; Messa, Letizia ; Esposito, Letizia ; Casili, Giovanna ; Ottolenghi, Sara ; Bonaventura, Eleonora ; Cuzzocrea, Salvatore ; Zuccotti, Gianvincenzo ; Tonduti, Davide ; Esposito, Emanuela ; Paterniti, Irene ; Cereda, Cristina ; Carelli, Stephana
Publisher:Switzerland: MDPI AG
Journal title:Antioxidants, 2023-04, Vol.12 (4), p.965
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Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings
Author / Creator:Sagnelli, Anna ; Magri, Stefania ; Farina, Laura ; Chiapparini, Luisa ; Marotta, Giorgio ; Tonduti, Davide ; Consonni, Monica ; Scigliuolo, Graziana Maria ; Benti, Riccardo ; Pareyson, Davide ; Taroni, Franco ; Salsano, Ettore ; Di Bella, Daniela
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2016-03, Vol.263 (3), p.591-593
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New spastic paraplegia phenotype associated to mutation of NFU1
Author / Creator:Tonduti, Davide ; Dorboz, Imen ; Imbard, Apolline ; Slama, Abdelhamid ; Boutron, Audrey ; Pichard, Samia ; Elmaleh, Monique ; Vallée, Louis ; Benoist, Jean François ; Ogier, Heléne ; Boespflug-Tanguy, Odile
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-02, Vol.10 (1), p.13-13, Article 13
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RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
Author / Creator:Mendes, Marisa I. ; Green, Lydia M. C. ; Bertini, Enrico ; Tonduti, Davide ; Aiello, Chiara ; Smith, Desiree ; Salsano, Ettore ; Beerepoot, Shanice ; Hertecant, Jozef ; Spiczak, Sarah ; Livingston, John H. ; Emrick, Lisa ; Fraser, Jamie ; Russell, Laura ; Bernard, Genevieve ; Magri, Stefania ; Di Bella, Daniela ; Taroni, Franco ; Koenig, Mary K. ; Moroni, Isabella ; Cappuccio, Gerarda ; Brunetti‐Pierri, Nicola ; Rhee, Jullie ; Mendelsohn, Bryce A. ; Helbig, Ingo ; Helbig, Katherine ; Muhle, Hiltrud ; Ismayl, Omar ; Vanderver, Adeline L. ; Salomons, Gajja S. ; Knaap, Marjo S. ; Wolf, Nicole I.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-01, Vol.7 (1), p.83-93
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Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report
Author / Creator:Ronchi, Dario ; Cosi, Alessandra ; Tonduti, Davide ; Orcesi, Simona ; Bordoni, Andreina ; Fortunato, Francesco ; Rizzuti, Mafalda ; Sciacco, Monica ; Collotta, Martina ; Cagdas, Sophie ; Capovilla, Giuseppe ; Moggio, Maurizio ; Berardinelli, Angela ; Veggiotti, Pierangelo ; Comi, Giacomo P
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2011-07, Vol.11 (1), p.85-85, Article 85
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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS...
Author / Creator:Cetin Gedik, Kader ; Lamot, Lovro ; Romano, Micol ; Demirkaya, Erkan ; Piskin, David ; Torreggiani, Sofia ; Adang, Laura A ; Armangue, Thais ; Barchus, Kathe ; Cordova, Devon R ; Crow, Yanick J ; Dale, Russell C ; Durrant, Karen L ; Eleftheriou, Despina ; Fazzi, Elisa M ; Gattorno, Marco ; Gavazzi, Francesco ; Hanson, Eric P ; Lee-Kirsch, Min Ae ; Montealegre Sanchez, Gina A ; Neven, Bénédicte ; Orcesi, Simona ; Ozen, Seza ; Poli, M Cecilia ; Schumacher, Elliot ; Tonduti, Davide ; Uss, Katsiaryna ; Aletaha, Daniel ; Feldman, Brian M ; Vanderver, Adeline ; Brogan, Paul A ; Goldbach-Mansky, Raphaela
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2022-05, Vol.81 (5), p.601-613
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Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives
Author / Creator:Eletti, Francesca ; Tagi, Veronica Maria ; Greco, Ilenia Pia ; Stucchi, Eliana ; Fiore, Giulia ; Bonaventura, Eleonora ; Bruschi, Fabio ; Tonduti, Davide ; Verduci, Elvira ; Zuccotti, Gianvincenzo
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2025-01, Vol.17 (3), p.455
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Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
Author / Creator:Masnada, Silvia ; Groenweg, Stefan ; Saletti, Veronica ; Chiapparini, Luisa ; Castellotti, Barbara ; Salsano, Ettore ; Visser, W. Edward ; Tonduti, Davide
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2019-12, Vol.34 (6), p.1565-1575
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FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Author / Creator:Masnada, Silvia ; Previtali, Roberto ; Erba, Paola ; Beretta, Elena ; Camporesi, Anna ; Chiapparini, Luisa ; Doneda, Chiara ; Iascone, Maria ; Sartorio, Marco U. A. ; Spaccini, Luigina ; Veggiotti, Pierangelo ; Osio, Maurizio ; Tonduti, Davide ; Moroni, Isabella
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2023-09, Vol.44 (9), p.3037-3043
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Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review
Author / Creator:Wilpert, Nina-Maria ; Tonduti, Davide ; Vaia, Ylenia ; Krude, Heiko ; Sarret, Catherine ; Schuelke, Markus
Publisher:Dove Medical Press Limited
Journal title:Neuropsychiatric disease and treatment, 2023-10, Vol.19, p.2195-2216
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The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
Author / Creator:Gedik, Kader Cetin ; Lamot, Lovro ; Romano, Micol ; Demirkaya, Erkan ; Piskin, David ; Torreggiani, Sofia ; Adang, Laura A. ; Armangue, Thais ; Barchus, Kathe ; Cordova, Devon R. ; Crow, Yanick J. ; Dale, Russell C. ; Durrant, Karen L. ; Eleftheriou, Despina ; Fazzi, Elisa M. ; Gattorno, Marco ; Gavazzi, Francesco ; Hanson, Eric P. ; Lee-Kirsch, Min Ae ; Montealegre Sanchez, Gina A. ; Neven, Bénédicte ; Orcesi, Simona ; Ozen, Seza ; Poli, M. Cecilia ; Schumacher, Elliot ; Tonduti, Davide ; Uss, Katsiaryna ; Aletaha, Daniel ; Feldman, Brian M. ; Vanderver, Adeline ; Brogan, Paul ; Goldbach-Mansky, Raphaela
Journal title:Annals of the rheumatic diseases, 2022-05, Vol.81 (5), p.601-613
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Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation

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Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period

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How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?

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KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

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Ruxolitinib in Aicardi-Goutières syndrome

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Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

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Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations

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Encephalopathies with intracranial calcification in children: clinical and genetic characterization

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Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

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Redox Imbalance in Neurological Disorders in Adults and Children

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Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings

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New spastic paraplegia phenotype associated to mutation of NFU1

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RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

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Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS...

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Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives

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Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency

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FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy

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Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review

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The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

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