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Page 1
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.
Prato G, De Grandis E, Mancardi MM, Cordani R, Giacomini T, Pisciotta L, Uccella S, Severino M, Tortora D, Pavanello M, Bertamino M, Verrina E, Caridi G, Di Rocco M, Nobili L. Prato G, et al. Among authors: di rocco m. Brain Dev. 2020 May;42(5):408-413. doi: 10.1016/j.braindev.2020.01.008. Epub 2020 Feb 27. Brain Dev. 2020. PMID: 32115305
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Giacomini T, Vari MS, Janis S, Prato G, Pisciotta L, Rocchi A, Michelucci A, Di Rocco M, Gandullia P, Mattioli G, Sacco O, Morana G, Mancardi MM. Giacomini T, et al. Among authors: di rocco m. Neuropediatrics. 2019 Oct;50(5):327-331. doi: 10.1055/s-0039-1692141. Epub 2019 Jul 18. Neuropediatrics. 2019. PMID: 31319423
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. Among authors: di rocco m. 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
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood.
Bertamino M, Signa S, Veneruso M, Prato G, Caorsi R, Losurdo G, Teutonico F, Esposito S, Formica F, Tovaglieri N, Nagel MA, Amico G, Zanetti A, Tortora D, Rossi A, Moretti P, Gattorno M, Ravelli A, Severino M; in behalf of Gaslini Stroke Study Group. Bertamino M, et al. J Neurol. 2021 Dec;268(12):4846-4865. doi: 10.1007/s00415-021-10606-6. Epub 2021 May 27. J Neurol. 2021. PMID: 34046727
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Mirabelli-Badenier M, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M. Mirabelli-Badenier M, et al. Among authors: di rocco m. Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26. Metab Brain Dis. 2015. PMID: 25156245
An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy.
Bertamino M, Signa S, Vagelli G, Caorsi R, Zanetti A, Volpi S, Losurdo G, Amico G, Dodi I, Prato G, Ronchetti AB, Di Rocco M, Nagel M, Severino M. Bertamino M, et al. Among authors: di rocco m. Quant Imaging Med Surg. 2021 Jan;11(1):463-471. doi: 10.21037/qims-20-628. Quant Imaging Med Surg. 2021. PMID: 33392044 Free PMC article. No abstract available.
300 results