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Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D. Masnada S, et al. Among authors: chiapparini l. Eur J Paediatr Neurol. 2020 Sep;28:151-158. doi: 10.1016/j.ejpn.2020.07.007. Epub 2020 Jul 29. Eur J Paediatr Neurol. 2020. PMID: 32800686
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C. Pensato V, et al. Among authors: chiapparini l. Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15. Brain. 2014. PMID: 24833714
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. Among authors: chiapparini l. 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
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.
Esposito S, Carecchio M, Tonduti D, Saletti V, Panteghini C, Chiapparini L, Zorzi G, Pantaleoni C, Garavaglia B, Krainc D, Lubbe SJ, Nardocci N, Mencacci NE. Esposito S, et al. Among authors: chiapparini l. Mov Disord. 2017 Nov;32(11):1646-1647. doi: 10.1002/mds.27175. Epub 2017 Sep 26. Mov Disord. 2017. PMID: 28949041 No abstract available.
SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.
Tonduti D, Invernizzi F, Panteghini C, Pinelli L, Battaglia S, Fazzi E, Zorzi G, Moroni I, Garavaglia B, Chiapparini L, Nardocci N. Tonduti D, et al. Among authors: chiapparini l. Eur J Paediatr Neurol. 2018 Mar;22(2):332-335. doi: 10.1016/j.ejpn.2017.11.012. Epub 2017 Dec 16. Eur J Paediatr Neurol. 2018. PMID: 29287834
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D. Ardissone A, et al. Among authors: chiapparini l. Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Orphanet J Rare Dis. 2018. PMID: 29615062 Free PMC article. Review.
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Among authors: chiapparini l. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.
178 results