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Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
D'Amore A, Tessa A, Naef V, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo D, Mero S, Battini R, Bertocci G, Baldacci J, Sicca F, Gemignani F, Ricca I, Rubegni A, Hirst J, Marchese M, Sahin M, Ebrahimi-Fakhari D, Santorelli FM. D'Amore A, et al. Ann Clin Transl Neurol. 2020 Apr;7(4):584-589. doi: 10.1002/acn3.51018. Epub 2020 Mar 25. Ann Clin Transl Neurol. 2020. PMID: 32216065 Free PMC article.
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.
Pringsheim T, Batla A, Shalash A, Sahu JK, Cosentino C, Ebrahimi-Fakhari D, Friedman J, Lin JP, Mink J, Munchau A, Munoz D, Nardocci N, Perez-Dueñas B, Sardar Z, Triki C, Ben-Pazi H, Silveira-Moriyama L, Troncoso-Schifferli M, Hoshino K, Dale RC, Fung VSC, Kurian MA, Roze E. Pringsheim T, et al. Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May. Mov Disord Clin Pract. 2023. PMID: 37205244 Free PMC article. Review.
Parkinson's disease: A disorder of axonal mitophagy?
Ebrahimi-Fakhari D, Wahlster L, Sahin M. Ebrahimi-Fakhari D, et al. Mov Disord. 2014 Nov;29(13):1582. doi: 10.1002/mds.26047. Epub 2014 Sep 25. Mov Disord. 2014. PMID: 25256171 No abstract available.
Tuberous sclerosis complex.
DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D. DiMario FJ Jr, et al. Pediatr Clin North Am. 2015 Jun;62(3):633-48. doi: 10.1016/j.pcl.2015.03.005. Epub 2015 Apr 11. Pediatr Clin North Am. 2015. PMID: 26022167 Review.
Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47. Ebrahimi-Fakhari D, et al. Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193663
Abnormal mTOR Activation in Autism.
Winden KD, Ebrahimi-Fakhari D, Sahin M. Winden KD, et al. Annu Rev Neurosci. 2018 Jul 8;41:1-23. doi: 10.1146/annurev-neuro-080317-061747. Epub 2018 Jan 25. Annu Rev Neurosci. 2018. PMID: 29490194 Review.
131 results