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Year Number of Results
1977 3
1985 1
1987 1
1988 1
1989 3
1992 1
1993 2
1994 1
1996 1
1997 1
1998 3
1999 5
2000 1
2002 3
2003 2
2004 11
2005 8
2006 11
2007 7
2008 10
2009 16
2010 20
2011 19
2012 20
2013 43
2014 37
2015 45
2016 27
2017 21
2018 17
2019 21
2020 25
2021 23
2022 41
2023 43
2024 44
2025 31

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496 results

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Page 1
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Karaca E, et al. Among authors: aksoy a. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048. Neuron. 2015. PMID: 26539891 Free PMC article.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Ebrahimi-Fakhari D, et al. Among authors: aksoy a. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
Hyperekplexia: A Single-Center Experience.
Dolu MH, Öz Tunçer G, Akça Ü, Aydın S, Bahadir O, Sezer Ö, Aksoy A, Taşdemir HA. Dolu MH, et al. Among authors: aksoy a. J Child Neurol. 2024 Jun;39(7-8):260-267. doi: 10.1177/08830738241263243. Epub 2024 Jul 25. J Child Neurol. 2024. PMID: 39051604
Hyperekplexia: a surprise diagnosis.
Yayıcı Köken Ö, Toptaş Dedeoğlu Ö, Aksoy A, Yüksel D. Yayıcı Köken Ö, et al. Among authors: aksoy a. Neurol Neurochir Pol. 2020;54(5):473-474. doi: 10.5603/PJNNS.a2020.0057. Epub 2020 Jul 24. Neurol Neurochir Pol. 2020. PMID: 32706098 Free article. No abstract available.
Left Ventricular Unloading Is Associated With Lower Mortality in Patients With Cardiogenic Shock Treated With Venoarterial Extracorporeal Membrane Oxygenation: Results From an International, Multicenter Cohort Study.
Schrage B, Becher PM, Bernhardt A, Bezerra H, Blankenberg S, Brunner S, Colson P, Cudemus Deseda G, Dabboura S, Eckner D, Eden M, Eitel I, Frank D, Frey N, Funamoto M, Goßling A, Graf T, Hagl C, Kirchhof P, Kupka D, Landmesser U, Lipinski J, Lopes M, Majunke N, Maniuc O, McGrath D, Möbius-Winkler S, Morrow DA, Mourad M, Noel C, Nordbeck P, Orban M, Pappalardo F, Patel SM, Pauschinger M, Pazzanese V, Reichenspurner H, Sandri M, Schulze PC, H G Schwinger R, Sinning JM, Aksoy A, Skurk C, Szczanowicz L, Thiele H, Tietz F, Varshney A, Wechsler L, Westermann D. Schrage B, et al. Among authors: aksoy a. Circulation. 2020 Dec;142(22):2095-2106. doi: 10.1161/CIRCULATIONAHA.120.048792. Epub 2020 Oct 9. Circulation. 2020. PMID: 33032450 Free PMC article. Clinical Trial.
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Akinci G, Ozyilmaz B, Ozturk G, Komur M, Onel E, Ardicli D, Gerik-Celebi HB, Ozcelik A, Yilmaz S, Cetin ID, Gunay C, Tuncer GO, Aydin H, Gunes AS, Koken OY, Polat I, Degerliyurt A, Celik T, Cetinoglu YK, Karti O, Sahan S, Karakayali B, Isik E, Elmas M, Sahinoglu B, Bolat H, Karadeniz C, Ceylan AC, Yis U, Turkdogan D, Aksoy A, Temel SG, Topaloglu H. Akinci G, et al. Among authors: aksoy a. Neuromuscul Disord. 2025 Aug;53:105423. doi: 10.1016/j.nmd.2025.105423. Epub 2025 Jun 25. Neuromuscul Disord. 2025. PMID: 40674812
496 results