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The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: benfenati f. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
'On-demand' gene therapy for epilepsy.
Striano P, Benfenati F. Striano P, et al. Among authors: benfenati f. Nat Rev Neurol. 2023 Mar;19(3):130-131. doi: 10.1038/s41582-022-00761-3. Nat Rev Neurol. 2023. PMID: 36509840 No abstract available.
Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
Sterlini B, Franchi F, Morinelli L, Corradi B, Parodi C, Albini M, Bianchi A, Marte A, Baldelli P, Alberini G, Maragliano L, Valente P, Benfenati F, Corradi A. Sterlini B, et al. Among authors: benfenati f. Neurobiol Dis. 2023 Jul;183:106177. doi: 10.1016/j.nbd.2023.106177. Epub 2023 Jun 2. Neurobiol Dis. 2023. PMID: 37271286 Free article.
Low glycemic index diet restrains epileptogenesis in a gender-specific fashion.
Michetti C, Ferrante D, Parisi B, Ciano L, Prestigio C, Casagrande S, Martinoia S, Terranova F, Millo E, Valente P, Giovedi' S, Benfenati F, Baldelli P. Michetti C, et al. Among authors: benfenati f. Cell Mol Life Sci. 2023 Nov 10;80(12):356. doi: 10.1007/s00018-023-04988-1. Cell Mol Life Sci. 2023. PMID: 37947886 Free PMC article.
The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na+ channels.
Franchi F, Marte A, Corradi B, Sterlini B, Alberini G, Romei A, De Fusco A, Vogel A, Maragliano L, Baldelli P, Corradi A, Valente P, Benfenati F. Franchi F, et al. Among authors: benfenati f. J Biol Chem. 2023 May;299(5):104632. doi: 10.1016/j.jbc.2023.104632. Epub 2023 Mar 22. J Biol Chem. 2023. PMID: 36958475 Free PMC article.
461 results