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702 results

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Page 1
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, Efthymiou S, Murphy D, Uva P, Verrotti A, Fiorillo C, Delvecchio M, Accogli A, Elsabbagh M, Houlden H, Scherer SW, Striano P, Zara F, Chou TF, Salpietro V. Iacomino M, et al. Among authors: verrotti a. Front Mol Neurosci. 2024 Apr 8;17:1268013. doi: 10.3389/fnmol.2024.1268013. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38650658 Free PMC article.
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: verrotti 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.
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.
Dell'Isola GB, Fattorusso A, Pisani F, Mastrangelo M, Cordelli DM, Pavone P, Parisi P, Ferretti A, Operto FF, Elia M, Carotenuto M, Pruna D, Matricardi S, Spezia E, Spalice A, Scorrano G, Savasta S, Prontera P, Di Cara G, Fruttini D, Salpietro V, Striano P, Verrotti A. Dell'Isola GB, et al. Among authors: verrotti a. J Neurol. 2024 Dec;271(12):7648-7649. doi: 10.1007/s00415-024-12653-1. J Neurol. 2024. PMID: 39476250 Free PMC article. No abstract available.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Clinical dissection of early onset absence epilepsy in children and prognostic implications.
Agostinelli S, Accorsi P, Beccaria F, Belcastro V, Canevini MP, Capovilla G, Cappanera S, Dalla Bernardina B, Darra F, Del Gaudio L, Elia M, Falsaperla R, Giordano L, Gobbi G, Minetti C, Nicita F, Parisi P, Pavone P, Pezzella M, Sesta M, Spalice A, Striano S, Tozzi E, Traverso M, Vari S, Vignoli A, Zamponi N, Zara F, Striano P, Verrotti A; SINP (Società Italiana Neurologia Pediatrica) Collaborative Working Group. Agostinelli S, et al. Among authors: verrotti a. Epilepsia. 2013 Oct;54(10):1761-70. doi: 10.1111/epi.12341. Epub 2013 Aug 27. Epilepsia. 2013. PMID: 24032425 Free article.
Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity.
Riva A, Coppola A, Bisulli F, Verrotti A, Bagnasco I, Elia M, Darra F, Lattanzi S, Meletti S, La Neve A, Di Gennaro G, Brambilla I, Santoro K, Prisco T, Macari F, Gambardella A, di Bonaventura C, Balestrini S, Marini C, Pruna D, Capovilla G, Specchio N, Gobbi G, Striano P; iRARE Study Group. Riva A, et al. Among authors: verrotti a. Epilepsia Open. 2024 Oct;9(5):1857-1867. doi: 10.1002/epi4.13020. Epub 2024 Aug 23. Epilepsia Open. 2024. PMID: 39176980 Free PMC article.
Developmental coordination disorder and epilepsy.
Esposito M, Santomauro R, Dell'Isola GB, Ruberto M, Verrotti A, Siciliano M, Carotenuto M. Esposito M, et al. Among authors: verrotti a. World J Pediatr. 2024 Dec 21. doi: 10.1007/s12519-024-00869-0. Online ahead of print. World J Pediatr. 2024. PMID: 39707046 No abstract available.
702 results