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Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis.
Mancardi MM, Nesti C, Febbo F, Cordani R, Siri L, Nobili L, Lampugnani E, Giacomini T, Granata T, Marucci G, Consales A, Rossi A, Luria G, Santorelli FM, Buratti S. Mancardi MM, et al. Among authors: giacomini t. Brain Dev. 2021 May;43(5):644-651. doi: 10.1016/j.braindev.2020.12.017. Epub 2021 Jan 21. Brain Dev. 2021. PMID: 33485697
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group. Bertamino M, et al. Eur J Paediatr Neurol. 2018 Jul;22(4):725-728. doi: 10.1016/j.ejpn.2018.04.002. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709427
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.
Giacomini T, Pisciotta L, Prato G, Meola I, Zara F, Fiorillo C, Baratto S, Severino M, De Grandis E, Mancardi MM. Giacomini T, et al. Seizure. 2019 Aug;70:56-58. doi: 10.1016/j.seizure.2019.06.029. Epub 2019 Jun 27. Seizure. 2019. PMID: 31279168 Free article. Review. No abstract available.
Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Cordani R, Micalizzi C, Giacomini T, Gastaldi M, Franciotta D, Fioredda F, Buratti S, Morana G, Pirlo D, Renna S, Castagnola E, Risso M, Lanteri P, Vari MS, Mancardi MM. Cordani R, et al. Among authors: giacomini t. Pediatr Neurol. 2020 Feb;103:61-64. doi: 10.1016/j.pediatrneurol.2019.09.004. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31759783
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients.
Giacomini T, Foiadelli T, Annovazzi P, Nosadini M, Gastaldi M, Franciotta D, Panarese C, Capris P, Camicione P, Lanteri P, De Grandis E, Prato G, Cordani R, Nobili L, Morana G, Rossi A, Pistorio A, Cellerino M, Uccelli A, Sartori S, Savasta S, Mancardi MM. Giacomini T, et al. Mult Scler Relat Disord. 2020 Apr;39:101917. doi: 10.1016/j.msard.2019.101917. Epub 2019 Dec 24. Mult Scler Relat Disord. 2020. PMID: 31896061
91 results