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Page 1
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Among authors: solazzi r. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.
Lamperti C, Invernizzi F, Solazzi R, Freri E, Carella F, Zeviani M, Zibordi F, Fusco C, Zorzi G, Granata T, Garavaglia B, Nardocci N. Lamperti C, et al. Among authors: solazzi r. Eur J Paediatr Neurol. 2016 Jan;20(1):152-7. doi: 10.1016/j.ejpn.2015.08.006. Epub 2015 Sep 3. Eur J Paediatr Neurol. 2016. PMID: 26384010
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti B, Ragona F, Freri E, Solazzi R, Ciardullo S, Tricomi G, Venerando A, Salis B, Canafoglia L, Villani F, Franceschetti S, Nardocci N, Gellera C, DiFrancesco JC, Granata T. Castellotti B, et al. Among authors: solazzi r. J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20. J Neurol. 2019. PMID: 30895386
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
DiFrancesco JC, Castellotti B, Milanesi R, Ragona F, Freri E, Canafoglia L, Franceschetti S, Ferrarese C, Magri S, Taroni F, Costa C, Labate A, Gambardella A, Solazzi R, Binda A, Rivolta I, Di Gennaro G, Casciato S, D'Incerti L, Barbuti A, DiFrancesco D, Granata T, Gellera C. DiFrancesco JC, et al. Among authors: solazzi r. Epilepsy Res. 2019 Jul;153:49-58. doi: 10.1016/j.eplepsyres.2019.04.004. Epub 2019 Apr 8. Epilepsy Res. 2019. PMID: 30986657 Review.
Early Parkinsonism in a Senegalese girl with Lafora disease.
Ragona F, Canafoglia L, Castellotti B, Solazzi R, Gabbiadini S, Freri E, Scaioli V, DiFrancesco JC, Gellera C, Granata T. Ragona F, et al. Among authors: solazzi r. Epileptic Disord. 2020 Apr 1;22(2):233-236. doi: 10.1684/epd.2020.1150. Epileptic Disord. 2020. PMID: 32301727
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Soldovieri MV, Freri E, Ambrosino P, Rivolta I, Mosca I, Binda A, Murano C, Ragona F, Canafoglia L, Vannicola C, Solazzi R, Granata T, Castellotti B, Messina G, Gellera C, Labalme A, Lesca G, DiFrancesco JC, Taglialatela M. Soldovieri MV, et al. Among authors: solazzi r. Pharmacol Res. 2020 Oct;160:105200. doi: 10.1016/j.phrs.2020.105200. Epub 2020 Sep 15. Pharmacol Res. 2020. PMID: 32942014 Free article.
SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.
Canafoglia L, Franceschetti S, Granata T, Messina G, Solazzi R, Ragona F, Freri E, Scaioli V, Nardocci N, Gellera C, Panzica F, DiFrancesco JC, Castellotti B. Canafoglia L, et al. Among authors: solazzi r. Seizure. 2020 Nov;82:56-58. doi: 10.1016/j.seizure.2020.09.011. Epub 2020 Sep 23. Seizure. 2020. PMID: 33007625 Free article. No abstract available.
Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy".
Vetri L, Calì F, Vinci M, Amato C, Roccella M, Granata T, Freri E, Solazzi R, Romano V, Elia M. Vetri L, et al. Among authors: solazzi r. Neuropediatrics. 2021 Apr;52(2):153. doi: 10.1055/s-0040-1716904. Epub 2020 Oct 27. Neuropediatrics. 2021. PMID: 33111300 No abstract available.
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: solazzi r. Neurology. 2021 Mar 2;96(9):e1319-e1333. doi: 10.1212/WNL.0000000000011237. Epub 2020 Dec 4. Neurology. 2021. PMID: 33277420 Free PMC article.
30 results