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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1994 1
1995 2
1997 1
1998 1
2002 1
2006 1
2007 1
2009 1
2010 1
2011 1
2012 3
2013 3
2014 5
2015 6
2016 1
2017 3
2018 2
2019 3
2020 4
2021 12
2022 12
2023 13
2024 4

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69 results

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Page 1
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.
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
Pane M, Berti B, Capasso A, Coratti G, Varone A, D'Amico A, Messina S, Masson R, Sansone VA, Donati MA, Agosto C, Bruno C, Ricci F, Pini A, Gagliardi D, Filosto M, Corti S, Leone D, Palermo C, Onesimo R, De Sanctis R, Ricci M, Bitetti I, Sframeli M, Dosi C, Albamonte E, Ticci C, Brolatti N, Bertini E, Finkel R, Mercuri E; ITASMAc group. Pane M, et al. Among authors: varone a. EClinicalMedicine. 2023 May 5;59:101997. doi: 10.1016/j.eclinm.2023.101997. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37197706 Free PMC article.
Pseudotumor cerebri.
Spennato P, Ruggiero C, Parlato RS, Buonocore MC, Varone A, Cianciulli E, Cinalli G. Spennato P, et al. Among authors: varone a. Childs Nerv Syst. 2011 Feb;27(2):215-35. doi: 10.1007/s00381-010-1268-x. Epub 2010 Aug 19. Childs Nerv Syst. 2011. PMID: 20721668 Review.
A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus.
Roberti R, Riva A, D'Onofrio G, Giacheri E, Amadori E, Vari MS, La Neve A, Vigevano F, Verrotti A, Cordelli DM, Romeo A, Palmieri A, Mancardi MM, Caglieris S, Varone A, Minetti C, Russo E, Buratti S, Striano P. Roberti R, et al. Among authors: varone a. Expert Rev Neurother. 2024 Feb;24(2):133-138. doi: 10.1080/14737175.2024.2305813. Epub 2024 Feb 6. Expert Rev Neurother. 2024. PMID: 38230547 No abstract available.
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.
Gastaldi M, Foiadelli T, Greco G, Scaranzin S, Rigoni E, Masciocchi S, Ferrari S, Mancinelli C, Brambilla L, Mancardi M, Giacomini T, Ferraro D, Della Corte M, Gallo A, Di Filippo M, Benedetti L, Novi G, Versino M, Banfi P, Iorio R, Moiola L, Turco E, Sartori S, Nosadini M, Ruggieri M, Savasta S, Colombo E, Ballante E, Jarius S, Mariotto S, Franciotta D; NINA study group. Gastaldi M, et al. J Neurol Neurosurg Psychiatry. 2023 Mar;94(3):201-210. doi: 10.1136/jnnp-2022-330237. Epub 2022 Dec 2. J Neurol Neurosurg Psychiatry. 2023. PMID: 36460438
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
Monda E, Lioncino M, Caiazza M, Simonelli V, Nesti C, Rubino M, Perna A, Mauriello A, Budillon A, Pota V, Bruno G, Varone A, Nigro V, Santorelli FM, Pacileo G, Russo MG, Frisso G, Sampaolo S, Limongelli G. Monda E, et al. Among authors: varone a. Int J Mol Sci. 2023 May 22;24(10):9108. doi: 10.3390/ijms24109108. Int J Mol Sci. 2023. PMID: 37240454 Free PMC article.
Malignant cerebral infarction associated with COVID-19 in a child.
Scala MR, Spennato P, Cicala D, Piccolo V, Varone A, Cinalli G. Scala MR, et al. Among authors: varone a. Childs Nerv Syst. 2022 Feb;38(2):441-445. doi: 10.1007/s00381-021-05273-x. Epub 2021 Jun 26. Childs Nerv Syst. 2022. PMID: 34175976 Free PMC article.
69 results