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Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim HM, Zubair U, Resch D, Saffari A, Danzi MC, Züchner S, Chopra M, Schierbaum L, Pujol A, Eklund EA, Ebrahimi-Fakhari D. Quiroz V, et al. Among authors: ebrahimi fakhari d. J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919. J Clin Invest. 2024. PMID: 38990652 Free PMC article. No abstract available.
PRRT2-Related Disorder.
Yang K, Quiroz V, Ebrahimi-Fakhari D. Yang K, et al. Among authors: ebrahimi fakhari d. 2018 Jan 11 [updated 2024 Jul 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Jan 11 [updated 2024 Jul 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29334453 Free Books & Documents. Review.
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.
Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ. Dowling JJ, et al. Among authors: ebrahimi fakhari d. Nat Med. 2024 Jul;30(7):1882-1887. doi: 10.1038/s41591-024-03078-4. Epub 2024 Jun 28. Nat Med. 2024. PMID: 38942994 Free PMC article. Clinical Trial.
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD. Domínguez Carral J, et al. Among authors: ebrahimi fakhari d. Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. eCollection 2024. Front Neurol. 2024. PMID: 38903163 Free PMC article.
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 Jun;11(6):1643-1647. doi: 10.1002/acn3.52055. Epub 2024 May 6. Ann Clin Transl Neurol. 2024. PMID: 38711225 Free PMC 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 PMC 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.
136 results