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

Year Number of Results
1992 1
2002 7
2003 1
2004 3
2005 6
2006 11
2007 2
2008 5
2009 8
2010 10
2011 7
2012 15
2013 8
2014 6
2015 19
2016 12
2017 10
2018 12
2019 10
2020 3
2021 6
2022 7
2023 10
2024 1

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151 results

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Page 1
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: avoli m. medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845. medRxiv. 2024. PMID: 38352438 Free PMC article. Preprint.
Specific quinone reductase 2 inhibitors reduce metabolic burden and reverse Alzheimer's disease phenotype in mice.
Gould NL, Scherer GR, Carvalho S, Shurrush K, Kayyal H, Edry E, Elkobi A, David O, Foqara M, Thakar D, Pavesi T, Sharma V, Walker M, Maitland M, Dym O, Albeck S, Peleg Y, Germain N, Babaev I, Sharir H, Lalzar M, Shklyar B, Hazut N, Khamaisy M, Lévesque M, Lajoie G, Avoli M, Amitai G, Lefker B, Subramanyam C, Shilton B, Barr H, Rosenblum K. Gould NL, et al. Among authors: avoli m. J Clin Invest. 2023 Oct 2;133(19):e162120. doi: 10.1172/JCI162120. J Clin Invest. 2023. PMID: 37561584 Free PMC article.
Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome.
Hooshmandi M, Sharma V, Thörn Perez C, Sood R, Krimbacher K, Wong C, Lister KC, Ureña Guzmán A, Bartley TD, Rocha C, Maussion G, Nadler E, Roque PM, Gantois I, Popic J, Lévesque M, Kaufman RJ, Avoli M, Sanz E, Nader K, Hagerman RJ, Durcan TM, Costa-Mattioli M, Prager-Khoutorsky M, Lacaille JC, Martinez-Cerdeno V, Gibson JR, Huber KM, Sonenberg N, Gkogkas CG, Khoutorsky A. Hooshmandi M, et al. Among authors: avoli m. Neuron. 2023 Oct 4;111(19):3028-3040.e6. doi: 10.1016/j.neuron.2023.06.017. Epub 2023 Jul 19. Neuron. 2023. PMID: 37473758
151 results