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Page 1
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: ebrahimi fakhari d. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
Direct detection of alpha synuclein oligomers in vivo.
Dimant H, Kalia SK, Kalia LV, Zhu LN, Kibuuka L, Ebrahimi-Fakhari D, McFarland NR, Fan Z, Hyman BT, McLean PJ. Dimant H, et al. Acta Neuropathol Commun. 2013 May 9;1:6. doi: 10.1186/2051-5960-1-6. Acta Neuropathol Commun. 2013. PMID: 24252244 Free PMC article.
[Stroke in children and adolescents].
Meyer S, Poryo M, Flotats-Bastardas M, Ebrahimi-Fakhari D, Yilmaz U. Meyer S, et al. Radiologe. 2017 Jul;57(7):569-576. doi: 10.1007/s00117-017-0265-4. Radiologe. 2017. PMID: 28589229 Review. German.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Huemer M, et al. J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14. J Inherit Metab Dis. 2015. PMID: 25868664 Free PMC article.
147 results