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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Among authors: di rosa g. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
PCDH19 mutations in female patients from Southern Italy.
Gagliardi M, Annesi G, Sesta M, Tarantino P, Conti P, Labate A, Di Rosa G, Quattrone A, Gambardella A. Gagliardi M, et al. Among authors: di rosa g. Seizure. 2015 Jan;24:118-20. doi: 10.1016/j.seizure.2014.08.010. Epub 2014 Aug 30. Seizure. 2015. PMID: 25218114 Free article.
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study.
Toldo I, Brunello F, Cavasin P, Nosadini M, Sartori S, Frigo AC, Mai R, Pelliccia V, Mancardi MM, Striano P, Severino M, Zara F, Rizzi R, Casellato S, Di Rosa G, Mastrangelo M, Spalice A, Budetta M, De Palma L, Guerrini R, Pruna D, Cordelli DM, Sofia V, Papa A, Chiesa V, Ragona F, Parisi P, D'Aniello A, Veggiotti P, Dainese F, Giordano L, Licchetta L, Tinuper P, D'Orsi G, Cassina M, Manara R. Toldo I, et al. Among authors: di rosa g. Pediatr Neurol. 2023 Apr;141:58-64. doi: 10.1016/j.pediatrneurol.2023.01.012. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36773408 Free article.
133 results