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Outcome measures for children with movement disorders.
Pagliano E, Baranello G, Masson R, Foscan M, Arnoldi MT, Marchi A, Aprile G, Pantaleoni C. Pagliano E, et al. Among authors: pantaleoni c. Eur J Paediatr Neurol. 2018 May;22(3):346-353. doi: 10.1016/j.ejpn.2018.01.014. Epub 2018 Feb 8. Eur J Paediatr Neurol. 2018. PMID: 29475818 Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients.
Bonanno S, Marcuzzo S, Malacarne C, Giagnorio E, Masson R, Zanin R, Arnoldi MT, Andreetta F, Simoncini O, Venerando A, Gellera C, Pantaleoni C, Mantegazza R, Bernasconi P, Baranello G, Maggi L. Bonanno S, et al. Among authors: pantaleoni c. Biomedicines. 2020 Jan 26;8(2):21. doi: 10.3390/biomedicines8020021. Biomedicines. 2020. PMID: 31991852 Free PMC article.
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
Pareyson D, Pantaleoni C, Eleopra R, De Filippis G, Moroni I, Freri E, Zibordi F, Bulgheroni S, Pagliano E, Sarti D, Silvani A, Grazzi L, Tiraboschi P, Didato G, Anghileri E, Bersano A, Valentini L, Piacentini S, Muscio C, Leonardi M, Mariotti C, Eoli M, Nuzzo S, Tagliavini F, Confalonieri P, De Giorgi F; Besta-Telehealth Task Force. Pareyson D, et al. Among authors: pantaleoni c. Neurol Sci. 2021 Jul;42(7):2637-2644. doi: 10.1007/s10072-021-05252-9. Epub 2021 Apr 30. Neurol Sci. 2021. PMID: 33929645 Free PMC article.
Abnormal cerebellar foliation in EBF3 mutation.
D'Arrigo S, Moscatelli M, Ciaccio C, Pantaleoni C, Castello R, Chiapparini L; TUDP Study Group. D'Arrigo S, et al. Among authors: pantaleoni c. Neurology. 2020 May 26;94(21):933-935. doi: 10.1212/WNL.0000000000009486. Epub 2020 May 4. Neurology. 2020. PMID: 32366537 No abstract available.
126 results