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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
Tonduti D, Orcesi S, Jenkinson EM, Dorboz I, Renaldo F, Panteghini C, Rice GI, Henneke M, Livingston JH, Elmaleh M, Burglen L, Willemsen MA, Chiapparini L, Garavaglia B, Rodriguez D, Boespflug-Tanguy O, Moroni I, Crow YJ. Tonduti D, et al. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7. Eur J Paediatr Neurol. 2016. PMID: 27091087
Role of epigenetics and alterations in RNA metabolism in leukodystrophies.
Rey F, Esposito L, Maghraby E, Mauri A, Berardo C, Bonaventura E, Tonduti D, Carelli S, Cereda C. Rey F, et al. Among authors: tonduti d. Wiley Interdiscip Rev RNA. 2024 May-Jun;15(3):e1854. doi: 10.1002/wrna.1854. Wiley Interdiscip Rev RNA. 2024. PMID: 38831585 Free article. Review.
Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders.
Vaia Y, Previtali R, Malgesini S, Patanè A, Masnada S, Lodi MAM, Veggiotti P, Tonduti D. Vaia Y, et al. Among authors: tonduti d. Mov Disord Clin Pract. 2023 Feb 18;10(4):701-703. doi: 10.1002/mdc3.13674. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070048 Free PMC article. No abstract available.
New case of 4H syndrome and a review of the literature.
Orcesi S, Tonduti D, Uggetti C, Larizza D, Fazzi E, Balottin U. Orcesi S, et al. Among authors: tonduti d. Pediatr Neurol. 2010 May;42(5):359-64. doi: 10.1016/j.pediatrneurol.2010.01.015. Pediatr Neurol. 2010. PMID: 20399393 Review.
Spinal cord calcification in an early-onset progressive leukoencephalopathy.
Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi GP, Del Bo R, Ronchi D, Bastianello S, Balottin U. Orcesi S, et al. Among authors: tonduti d. J Child Neurol. 2011 Jul;26(7):876-80. doi: 10.1177/0883073810390038. Epub 2011 Mar 22. J Child Neurol. 2011. PMID: 21427441
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP. Ronchi D, et al. Among authors: tonduti d. BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85. BMC Neurol. 2011. PMID: 21749722 Free PMC article.
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y. Livingston J, et al. Among authors: tonduti d. Neuropediatrics. 2011 Dec;42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1. Neuropediatrics. 2011. PMID: 22134833
Calcifying leukoencephalopathies: new overlapping phenotypes.
Orcesi S, Tonduti D, La Piana R. Orcesi S, et al. Among authors: tonduti d. Am J Med Genet A. 2012 Apr;158A(4):964-5. doi: 10.1002/ajmg.a.35242. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419650 No abstract available.
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. Tonduti D, et al. J Child Neurol. 2013 Jun;28(6):795-800. doi: 10.1177/0883073812450944. Epub 2012 Jul 17. J Child Neurol. 2013. PMID: 22805248 Free PMC article.
101 results