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Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Chopra M, et al. Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24. Ann Clin Transl Neurol. 2022. PMID: 35076175 Free PMC article.
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.
Expansion of the genetic landscape of ERLIN2-related disorders.
Srivastava S, D'Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM. Srivastava S, et al. Ann Clin Transl Neurol. 2020 Apr;7(4):573-578. doi: 10.1002/acn3.51007. Epub 2020 Mar 8. Ann Clin Transl Neurol. 2020. PMID: 32147972 Free PMC article.
131 results