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Page 1
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
DiFrancesco JC, Ragona F, Murano C, Frosio A, Melgari D, Binda A, Calamaio S, Prevostini R, Mauri M, Canafoglia L, Castellotti B, Messina G, Gellera C, Previtali R, Veggiotti P, Milanesi R, Barbuti A, Solazzi R, Freri E, Granata T, Rivolta I. DiFrancesco JC, et al. Among authors: freri e. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
Long-term outcome of epilepsy in patients with Prader-Willi syndrome.
Verrotti A, Cusmai R, Laino D, Carotenuto M, Esposito M, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A. Verrotti A, et al. Among authors: freri e. J Neurol. 2015 Jan;262(1):116-23. doi: 10.1007/s00415-014-7542-1. Epub 2014 Oct 18. J Neurol. 2015. PMID: 25326049
Neuroimaging Changes in Menkes Disease, Part 1.
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: freri e. AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495946 Free PMC article. Review.
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Neuroimaging Changes in Menkes Disease, Part 2.
Manara R, Rocco MC, D'agata L, Cusmai R, Freri E, Giordano L, Darra F, Procopio E, Toldo I, Peruzzi C, Vittorini R, Spalice A, Fusco C, Nosadini M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: freri e. AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865. doi: 10.3174/ajnr.A5192. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495940 Free PMC article. Review.
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: freri e. Neurology. 2003 Feb 11;60(3):422-5. doi: 10.1212/wnl.60.3.422. Neurology. 2003. PMID: 12578922 Clinical Trial.
Diagnostic imaging in 13 cases of Rasmussen's encephalitis: can early MRI suggest the diagnosis?
Chiapparini L, Granata T, Farina L, Ciceri E, Erbetta A, Ragona F, Freri E, Fusco L, Gobbi G, Capovilla G, Tassi L, Giordano L, Viri M, Dalla Bernardina B, Spreafico R, Savoiardo M. Chiapparini L, et al. Among authors: freri e. Neuroradiology. 2003 Mar;45(3):171-83. doi: 10.1007/s00234-002-0923-7. Epub 2003 Feb 12. Neuroradiology. 2003. PMID: 12684722
Experience with immunomodulatory treatments in Rasmussen's encephalitis.
Granata T, Fusco L, Gobbi G, Freri E, Ragona F, Broggi G, Mantegazza R, Giordano L, Villani F, Capovilla G, Vigevano F, Bernardina BD, Spreafico R, Antozzi C. Granata T, et al. Among authors: freri e. Neurology. 2003 Dec 23;61(12):1807-10. doi: 10.1212/01.wnl.0000099074.04539.e0. Neurology. 2003. PMID: 14694056
Schizencephaly: clinical spectrum, epilepsy, and pathogenesis.
Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Granata T, et al. Among authors: freri e. J Child Neurol. 2005 Apr;20(4):313-8. doi: 10.1177/08830738050200040801. J Child Neurol. 2005. PMID: 15921232 Review.
110 results