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

Year Number of Results
1993 6
2010 2
2011 3
2012 4
2013 7
2014 9
2015 10
2016 8
2017 9
2018 11
2019 7
2020 8
2021 12
2022 13
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2026 22

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161 results

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Page 1
Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.
Alecu JE, Schierbaum LM, Tam A, Quiroz V, Bernardi K, Yang K, Roller JR, Döbler-Neumann M, Rattay TW, González-Salazar C, Zehr EA, Skorohodovs D, Rong J, Carty S, Battaglia N, Lee S, Moon J, Christie M, Roll-Mecak A, França MC Jr, Schüle R, Schöls LJ, Ebrahimi-Fakhari D. Alecu JE, et al. Among authors: ebrahimi fakhari d. Brain. 2026 May 5:awag150. doi: 10.1093/brain/awag150. Online ahead of print. Brain. 2026. PMID: 42083457
Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.
Gonzalez Saez-Diez E, Ferrer Socorro M, Yang K, Battaglia N, Zaman Z, Bennett M, Vanderver A, Lee PY, Henderson LA, Andzelm MM, Ebrahimi-Fakhari D. Gonzalez Saez-Diez E, et al. Among authors: ebrahimi fakhari d. Ann Clin Transl Neurol. 2026 Apr 25. doi: 10.1002/acn3.70407. Online ahead of print. Ann Clin Transl Neurol. 2026. PMID: 42033272 Free article.
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.
Domínguez-Carral J, Domínguez Cobo AM, Balsells S, Aguilar-Ros A, Chang CT, Ludlam WG, Yang K, Bernardi K, Chinigioli M, Salazar-Villacorta A, Di Pisa V, Lamagrande-Casanova N, González-Alguacil E, De la Casa-Fages B, Okumura A, Rodríguez J, Agarwal A, Muñoz-Chesta D, Reynoso-Osnayo C, Lin A, Tabarki B, Parvin J, Gallo AA, Forno A, Maass F, Montiel Blanco J, Nasif S, Jennions E, Ramón-Gómez JL, Verhelst H, Nieto Barceló JJ, Čokolić Petrović D, García Ruiz LV, van Riesen C, Rego Sousa P, Massaro Sanchez MDP, Khan HA, Hakami W, Friedman J, Espinoza-Quinteros I, Troncoso M, Garg D, Pauni M, Kurahashi H, Miranda-Herrero MC, Duat-Rodriguez A, Soliani L, Kurian MA, Schteinschnaider A, Srivastava S, Ebrahimi-Fakhari D, Martemyanov KA, Ortigoza-Escobar JD. Domínguez-Carral J, et al. Among authors: ebrahimi fakhari d. Ann Neurol. 2026 Apr 17. doi: 10.1002/ana.78213. Online ahead of print. Ann Neurol. 2026. PMID: 41992961
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Calame DG, Wiener EK, Gavazzi F, Sevagamoorthy A, Pizzino A, Arnold K, Dominguez Gonzalez C, Jammihal T, Bennett M, Adang L, Woidill S, Whitehead MT, Vossough A, D'Aiello R, Takanohashi A, Lele J, Simons C, Rius R, Formaini E, Sullivan KE, Andzelm M, Ebrahimi-Fakhari D, Otten C, Wong S, Reynolds T, Schiffmann R, Wolf NI, Waisfisz Q, Niermeijer JM, DeMarzo D, Dawood M, Gandhi M, Levine JM, Chinn IK, Fisher K, Emrick L, Alam CA, Kaiyrzhanov R, Maroofian R, Houlden H, Jhangiani SN, Mehta HH, Muzny DM, Sedlazeck FJ, Posey JE, Lupski JR, Gibbs RA, Rajagopalan R, Vanderver A. Calame DG, et al. Among authors: ebrahimi fakhari d. medRxiv [Preprint]. 2026 Apr 1:2026.03.27.26345228. doi: 10.64898/2026.03.27.26345228. medRxiv. 2026. PMID: 41959779 Free PMC article. Preprint.
Preclinical validation of AAV9-TECPR2 gene therapy in a novel knock-in model of TECPR2-related disorder.
Turnes BL, Casey-Caplan P, Mejia L, Berry T, Zhao J, Villa F, Cropper E, Arab M, Zhang B, Surin D, Ebrahimi-Fakhari D, de Lima S, Kopin AS, Andrews N, Hodgson N, Fagiolini M. Turnes BL, et al. Among authors: ebrahimi fakhari d. bioRxiv [Preprint]. 2026 Mar 25:2026.03.02.708636. doi: 10.64898/2026.03.02.708636. bioRxiv. 2026. PMID: 41867828 Free PMC article. Preprint.
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.
Bernardi K, Zhou A, Yang K, Rong J, Quiroz V, Alecu JE, Agianda HAP, Schmidt HJD, Tam A, Carty S, Espasandin-Hueter N, Macaya A, Stamelou M, Pringsheim T, Means M, Lakhotia A, Blackburn J, Zea Vera A, Becker LF, Brüggemann N, Münchau A, Seliverstov Y, Vogt L, Gorodetsky C, Levine JM, Runco AD, Calame DG, Dai L, Ding C, Ebrahimi-Fakhari D. Bernardi K, et al. Among authors: ebrahimi fakhari d. Mov Disord. 2026 May;41(5):1268-1284. doi: 10.1002/mds.70227. Epub 2026 Mar 18. Mov Disord. 2026. PMID: 41850905
161 results