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Page 1
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.
Akula SK, Quiroz V, D'Gama AM, Chiu MY, Koh HY, Saffari A, Zaman Z, Tam A, Srouji R, Valentine R, Wiltrout K, Pinto A, Harini C, Pearl PL, Poduri A, Ebrahimi-Fakhari D. Akula SK, et al. Among authors: ebrahimi fakhari d. Ann Clin Transl Neurol. 2024 May 6. doi: 10.1002/acn3.52055. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38711225 Free article.
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.
Afshar-Saber W, Chen C, Teaney NA, Kim K, Yang Z, Gasparoli FM, Ebrahimi-Fakhari D, Buttermore ED, Pin-Fang Chen I, Pearl PL, Sahin M. Afshar-Saber W, et al. Among authors: ebrahimi fakhari d. Stem Cell Res. 2024 Jun;77:103424. doi: 10.1016/j.scr.2024.103424. Epub 2024 Apr 21. Stem Cell Res. 2024. PMID: 38677032 Free article.
Emerging therapies for childhood-onset movement disorders.
Vogt L, Quiroz V, Ebrahimi-Fakhari D. Vogt L, et al. Among authors: ebrahimi fakhari d. Curr Opin Pediatr. 2024 Jun 1;36(3):331-341. doi: 10.1097/MOP.0000000000001354. Epub 2024 Apr 4. Curr Opin Pediatr. 2024. PMID: 38655812 Review.
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.
Vogt LM, Yang K, Tse G, Quiroz V, Zaman Z, Wang L, Srouji R, Tam A, Estrella E, Manzi S, Fasano A, Northam WT, Stone S, Moharir M, Gonorazky H, McAlvin B, Kleinman M, LaRovere KL, Gorodetsky C, Ebrahimi-Fakhari D. Vogt LM, et al. Among authors: ebrahimi fakhari d. Mov Disord. 2024 Apr 15. doi: 10.1002/mds.29794. Online ahead of print. Mov Disord. 2024. PMID: 38619077 Review.
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Saffari A, Brechmann B, Böger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu JE, Ziegler M, Scheffold M, Winden K, Hubbs J, Buttermore ED, Barrett L, Borner GHH, Davies AK, Ebrahimi-Fakhari D, Sahin M. Saffari A, et al. Among authors: ebrahimi fakhari d. Nat Commun. 2024 Jan 17;15(1):584. doi: 10.1038/s41467-023-44264-1. Nat Commun. 2024. PMID: 38233389 Free PMC article.
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Afshar-Saber W, Teaney NA, Winden KD, Jumo H, Shi X, McGinty G, Hubbs J, Chen C, Tokatly Latzer I, Gasparoli F, Ebrahimi-Fakhari D, Buttermore ED, Roullet JB, Pearl PL, Sahin M. Afshar-Saber W, et al. Among authors: ebrahimi fakhari d. Neurobiol Dis. 2024 Jan;190:106386. doi: 10.1016/j.nbd.2023.106386. Epub 2023 Dec 16. Neurobiol Dis. 2024. PMID: 38110041 Free PMC article.
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.
Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, Szczaluba K, Mierzewska H, King SD, Santorelli FM, Yoon G, Trombetta B, Kivisäkk P, Zhang B, Sahin M, Ebrahimi-Fakhari D. Alecu JE, et al. Among authors: ebrahimi fakhari d. Mov Disord. 2023 Sep;38(9):1742-1750. doi: 10.1002/mds.29524. Epub 2023 Jul 22. Mov Disord. 2023. PMID: 37482941
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia.
Saffari A, Brechmann B, Boeger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu J, Ziegler M, Scheffold M, Winden K, Hubbs J, Buttermore E, Barrett L, Borner G, Davies A, Sahin M, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: ebrahimi fakhari d. Res Sq [Preprint]. 2023 Jun 12:rs.3.rs-3036166. doi: 10.21203/rs.3.rs-3036166/v1. Res Sq. 2023. PMID: 37398196 Free PMC article. Updated. Preprint.
131 results