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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Ebrahimi-Fakhari D, et al. Among authors: sahin m. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. Poduri A, et al. Among authors: sahin m. Brain Dev. 2010 Aug;32(7):550-5. doi: 10.1016/j.braindev.2009.08.005. Epub 2009 Sep 13. Brain Dev. 2010. PMID: 19751967 Free PMC article.
Micro-duplications of 1q32.1 associated with neurodevelopmental delay.
Olson HE, Shen Y, Poduri A, Gorman MP, Dies KA, Robbins M, Hundley R, Wu B, Sahin M. Olson HE, et al. Among authors: sahin m. Eur J Med Genet. 2012 Feb;55(2):145-50. doi: 10.1016/j.ejmg.2011.12.008. Epub 2012 Jan 2. Eur J Med Genet. 2012. PMID: 22266072 Free PMC article.
Parkinson's disease: A disorder of axonal mitophagy?
Ebrahimi-Fakhari D, Wahlster L, Sahin M. Ebrahimi-Fakhari D, et al. Among authors: sahin m. Mov Disord. 2014 Nov;29(13):1582. doi: 10.1002/mds.26047. Epub 2014 Sep 25. Mov Disord. 2014. PMID: 25256171 No abstract available.
Symptom profiles of autism spectrum disorder in tuberous sclerosis complex.
Jeste SS, Varcin KJ, Hellemann GS, Gulsrud AC, Bhatt R, Kasari C, Wu JY, Sahin M, Nelson CA 3rd. Jeste SS, et al. Among authors: sahin m. Neurology. 2016 Aug 23;87(8):766-72. doi: 10.1212/WNL.0000000000003002. Epub 2016 Jul 20. Neurology. 2016. PMID: 27440144 Free PMC article.
2,175 results