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Page 1
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Riva A, Nobile G, Giacomini T, Ognibene M, Scala M, Balagura G, Madia F, Accogli A, Romano F, Tortora D, Severino M, Scudieri P, Baldassari S, Musante I, Uva P, Salpietro V, Torella A, Nigro V, Capra V, Nobili L, Striano P, Mancardi MM, Zara F, Iacomino M. Riva A, et al. Among authors: scudieri p. Front Pediatr. 2022 Apr 29;10:847549. doi: 10.3389/fped.2022.847549. eCollection 2022. Front Pediatr. 2022. PMID: 35573960 Free PMC article.
The Autophagy Inhibitor Spautin-1 Antagonizes Rescue of Mutant CFTR Through an Autophagy-Independent and USP13-Mediated Mechanism.
Pesce E, Sondo E, Ferrera L, Tomati V, Caci E, Scudieri P, Musante I, Renda M, Baatallah N, Servel N, Hinzpeter A, di Bernardo D, Pedemonte N, Galietta LJV. Pesce E, et al. Among authors: scudieri p. Front Pharmacol. 2018 Dec 13;9:1464. doi: 10.3389/fphar.2018.01464. eCollection 2018. Front Pharmacol. 2018. PMID: 30618756 Free PMC article.
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders.
Baldassari S, Musante I, Iacomino M, Zara F, Salpietro V, Scudieri P. Baldassari S, et al. Among authors: scudieri p. Front Cell Dev Biol. 2020 Oct 12;8:590119. doi: 10.3389/fcell.2020.590119. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33154971 Free PMC article. Review.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M, Schiavetti I, Madia F, Chelleri C, Piccolo G, Accogli A, Riva A, Salpietro V, Bocciardi R, Morcaldi G, Di Duca M, Caroli F, Verrico A, Milanaccio C, Viglizzo G, Traverso M, Baldassari S, Scudieri P, Iacomino M, Piatelli G, Minetti C, Striano P, Garrè ML, De Marco P, Diana MC, Capra V, Pavanello M, Zara F. Scala M, et al. Among authors: scudieri p. Cancers (Basel). 2021 Apr 14;13(8):1879. doi: 10.3390/cancers13081879. Cancers (Basel). 2021. PMID: 33919865 Free PMC article.
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro V, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P. Accogli A, et al. Among authors: scudieri p. Neurology. 2021 Aug 10;97(6):e577-e586. doi: 10.1212/WNL.0000000000012298. Epub 2021 Jun 2. Neurology. 2021. PMID: 34078716 Free PMC article.
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.
Scala M, Anijs M, Battini R, Madia F, Capra V, Scudieri P, Verrotti A, Zara F, Minetti C, Vernes SC, Striano P. Scala M, et al. Among authors: scudieri p. Ital J Pediatr. 2021 Oct 12;47(1):208. doi: 10.1186/s13052-021-01162-w. Ital J Pediatr. 2021. PMID: 34641913 Free PMC article.
55 results