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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
Recovery of visual functions after early acquired occipital damage.
Bova SM, Giovenzana A, Signorini S, La Piana R, Uggetti C, Bianchi PE, Fazzi E. Bova SM, et al. Dev Med Child Neurol. 2008 Apr;50(4):311-5. doi: 10.1111/j.1469-8749.2008.02044.x. Epub 2008 Feb 28. Dev Med Child Neurol. 2008. PMID: 18312600 Free article.
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.
Vecchi M, Barba C, De Carlo D, Stivala M, Guerrini R, Albamonte E, Ranalli D, Battaglia D, Lunardi G, Boniver C, Piccolo B, Pisani F, Cantalupo G, Nieddu G, Casellato S, Cappanera S, Cesaroni E, Zamponi N, Serino D, Fusco L, Iodice A, Palestra F, Giordano L, Freri E, De Giorgi I, Ragona F, Granata T, Fiocchi I, Bova SM, Mastrangelo M, Verrotti A, Matricardi S, Fontana E, Caputo D, Darra F, Dalla Bernardina B, Beccaria F, Capovilla G, Baglietto MP, Gagliardi A, Vignoli A, Canevini MP, Perissinotto E, Francione S. Vecchi M, et al. Among authors: bova sm. Epilepsia. 2016 Nov;57(11):1808-1816. doi: 10.1111/epi.13574. Epub 2016 Oct 20. Epilepsia. 2016. PMID: 27762437 Free article.
Occult spinal dysraphism: lessons learned by retrospective analysis of 149 surgical cases about natural history, surgical indications, urodynamic testing, and intraoperative neurophysiological monitoring.
Valentini LG, Selvaggio G, Erbetta A, Cordella R, Pecoraro MG, Bova S, Boni E, Beretta E, Furlanetto M. Valentini LG, et al. Childs Nerv Syst. 2013 Sep;29(9):1657-69. doi: 10.1007/s00381-013-2186-5. Epub 2013 Sep 7. Childs Nerv Syst. 2013. PMID: 24013336
Subgroup comparison according to clinical phenotype and serostatus in autoimmune encephalitis: a multicenter retrospective study.
Gastaldi M, Mariotto S, Giannoccaro MP, Iorio R, Zoccarato M, Nosadini M, Benedetti L, Casagrande S, Di Filippo M, Valeriani M, Ricci S, Bova S, Arbasino C, Mauri M, Versino M, Vigevano F, Papetti L, Romoli M, Lapucci C, Massa F, Sartori S, Zuliani L, Barilaro A, De Gaspari P, Spagni G, Evoli A, Liguori R, Ferrari S, Marchioni E, Giometto B, Massacesi L, Franciotta D. Gastaldi M, et al. Eur J Neurol. 2020 Apr;27(4):633-643. doi: 10.1111/ene.14139. Epub 2020 Jan 14. Eur J Neurol. 2020. PMID: 31814224
Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy.
Matricardi S, Casciato S, Bozzetti S, Mariotto S, Stabile A, Freri E, Deleo F, Sartori S, Nosadini M, Pappalardo I, Meletti S, Giovannini G, Zucchi E, Di Bonaventura C, Di Gennaro G, Ferrari S, Zuliani L, Zoccarato M, Vogrig A, Lattanzi S, Michelucci R, Gambardella A, Ferlazzo E, Fusco L, Granata T, Villani F; Immune Epilepsies Study Group of the Italian League Against Epilepsy. Matricardi S, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 25:jnnp-2022-329195. doi: 10.1136/jnnp-2022-329195. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35879055
51 results