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

Year Number of Results
2002 5
2003 5
2004 7
2005 4
2006 4
2007 8
2008 4
2009 8
2010 14
2011 17
2012 21
2013 17
2014 15
2015 17
2016 17
2017 16
2018 21
2019 20
2020 23
2021 22
2022 14
2023 19
2024 18
2025 12

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292 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.
Nappi M, Alberini G, Berselli A, Roscioni A, Soldovieri MV, Servettini I, Barrese V, Weckhuysen S, Chiu TA, Scheffer IE, Benfenati F, Maragliano L, Miceli F, Taglialatela M. Nappi M, et al. Among authors: benfenati f. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2412388121. doi: 10.1073/pnas.2412388121. Epub 2024 Nov 27. Proc Natl Acad Sci U S A. 2024. PMID: 39602259 Free PMC article.
Roadmap on semiconductor-cell biointerfaces.
Tian B, Xu S, Rogers JA, Cestellos-Blanco S, Yang P, Carvalho-de-Souza JL, Bezanilla F, Liu J, Bao Z, Hjort M, Cao Y, Melosh N, Lanzani G, Benfenati F, Galli G, Gygi F, Kautz R, Gorodetsky AA, Kim SS, Lu TK, Anikeeva P, Cifra M, Krivosudský O, Havelka D, Jiang Y. Tian B, et al. Among authors: benfenati f. Phys Biol. 2018 Mar 9;15(3):031002. doi: 10.1088/1478-3975/aa9f34. Phys Biol. 2018. PMID: 29205173 Free PMC article. Review.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A. Guerrini R, et al. Among authors: benfenati f. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 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.
Nanoactuator for Neuronal Optoporation.
Pfeffer ME, DiFrancesco ML, Marchesi A, Galluzzi F, Moschetta M, Rossini A, Francia S, Franz CM, Fok Y, Valotteau C, Paternò GM, Redondo Morata L, Vacca F, Mattiello S, Magni A, Maragliano L, Beverina L, Mattioli G, Lanzani G, Baldelli P, Colombo E, Benfenati F. Pfeffer ME, et al. Among authors: benfenati f. ACS Nano. 2024 May 14;18(19):12427-12452. doi: 10.1021/acsnano.4c01672. Epub 2024 Apr 30. ACS Nano. 2024. PMID: 38687909
Interfacing Graphene-Based Materials With Neural Cells.
Bramini M, Alberini G, Colombo E, Chiacchiaretta M, DiFrancesco ML, Maya-Vetencourt JF, Maragliano L, Benfenati F, Cesca F. Bramini M, et al. Among authors: benfenati f. Front Syst Neurosci. 2018 Apr 11;12:12. doi: 10.3389/fnsys.2018.00012. eCollection 2018. Front Syst Neurosci. 2018. PMID: 29695956 Free PMC article. Review.
PRRT2, a network stability gene.
Michetti C, Corradi A, Benfenati F. Michetti C, et al. Among authors: benfenati f. Oncotarget. 2017 Jul 24;8(34):55770-55771. doi: 10.18632/oncotarget.19506. eCollection 2017 Aug 22. Oncotarget. 2017. PMID: 28915549 Free PMC article. No abstract available.
292 results