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Page 1
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Santambrogio P, Ripamonti M, Paolizzi C, Panteghini C, Carecchio M, Chiapparini L, Raimondi M, Rubio A, Di Meo I, Cozzi A, Taverna S, De Palma G, Tiranti V, Levi S. Santambrogio P, et al. Among authors: panteghini c. Int J Mol Sci. 2020 May 22;21(10):3664. doi: 10.3390/ijms21103664. Int J Mol Sci. 2020. PMID: 32456086 Free PMC article.
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: panteghini c. 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
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Carecchio M, Mencacci NE, Iodice A, Pons R, Panteghini C, Zorzi G, Zibordi F, Bonakis A, Dinopoulos A, Jankovic J, Stefanis L, Bhatia KP, Monti V, R'Bibo L, Veneziano L, Garavaglia B, Fusco C, Wood N, Stamelou M, Nardocci N. Carecchio M, et al. Among authors: panteghini c. Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10. Parkinsonism Relat Disord. 2017. PMID: 28511835 Free PMC article.
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: panteghini c. 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: panteghini c. 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
44 results