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Page 1
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P; Aicardi Syndrome International Study Group. Masnada S, et al. Among authors: chiapparini l. Neurology. 2021 Mar 2;96(9):e1319-e1333. doi: 10.1212/WNL.0000000000011237. Epub 2020 Dec 4. Neurology. 2021. PMID: 33277420 Free PMC article.
Rasmussen's encephalitis: early characteristics allow diagnosis.
Granata T, Gobbi G, Spreafico R, Vigevano F, Capovilla G, Ragona F, Freri E, Chiapparini L, Bernasconi P, Giordano L, Bertani G, Casazza M, Dalla Bernardina B, Fusco L. Granata T, et al. Among authors: chiapparini l. Neurology. 2003 Feb 11;60(3):422-5. doi: 10.1212/wnl.60.3.422. Neurology. 2003. PMID: 12578922 Clinical Trial.
Aicardi-Goutières syndrome: description of a late onset case.
D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Lebon P, Rice G, Crow YJ, Pantaleoni C. D'Arrigo S, et al. Among authors: chiapparini l. Dev Med Child Neurol. 2008 Aug;50(8):631-4. doi: 10.1111/j.1469-8749.2008.03033.x. Dev Med Child Neurol. 2008. PMID: 18754903 Free article.
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S. Canafoglia L, et al. Among authors: chiapparini l. Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115733 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: 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
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.
Conventional MRI.
Arrigoni F, Calloni S, Huisman TAGM, Chiapparini L. Arrigoni F, et al. Among authors: chiapparini l. Handb Clin Neurol. 2018;154:219-234. doi: 10.1016/B978-0-444-63956-1.00013-8. Handb Clin Neurol. 2018. PMID: 29903441 Review.
177 results