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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 21
2022 14
2023 13

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257 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.
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
dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.
Colasante G, Lignani G, Brusco S, Di Berardino C, Carpenter J, Giannelli S, Valassina N, Bido S, Ricci R, Castoldi V, Marenna S, Church T, Massimino L, Morabito G, Benfenati F, Schorge S, Leocani L, Kullmann DM, Broccoli V. Colasante G, et al. Among authors: benfenati f. Mol Ther. 2020 Jan 8;28(1):235-253. doi: 10.1016/j.ymthe.2019.08.018. Epub 2019 Sep 3. Mol Ther. 2020. PMID: 31607539 Free PMC article.
Photochemistry of Organic Retinal Prostheses.
Manfredi G, Colombo E, Barsotti J, Benfenati F, Lanzani G. Manfredi G, et al. Among authors: benfenati f. Annu Rev Phys Chem. 2019 Jun 14;70:99-121. doi: 10.1146/annurev-physchem-042018-052445. Annu Rev Phys Chem. 2019. PMID: 31174457 Review.
Neuronal Cultures and Nanomaterials.
Bramini M, Rocchi A, Benfenati F, Cesca F. Bramini M, et al. Among authors: benfenati f. Adv Neurobiol. 2019;22:51-79. doi: 10.1007/978-3-030-11135-9_3. Adv Neurobiol. 2019. PMID: 31073932 Review.
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.
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.
Synapsin III in brain development.
Perlini LE, Benfenati F, Cancedda L. Perlini LE, et al. Among authors: benfenati f. Oncotarget. 2016 Mar 29;7(13):15288-9. doi: 10.18632/oncotarget.8106. Oncotarget. 2016. PMID: 26993596 Free PMC article. No abstract available.
Synapsins--molecular function, development and disease.
Benfenati F. Benfenati F. Semin Cell Dev Biol. 2011 Jun;22(4):377. doi: 10.1016/j.semcdb.2011.07.016. Epub 2011 Jul 23. Semin Cell Dev Biol. 2011. PMID: 21802522 No abstract available.
257 results