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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG. Marin-Valencia I, et al. Among authors: demir e. Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823706 Free PMC article.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
Clinical and genetic correlate in childhood onset Friedreich ataxia.
Alikaşifoglu M, Topaloglu H, Tunçbilek E, Ceviz N, Anar B, Demir E, Ozme S. Alikaşifoglu M, et al. Among authors: demir e. Neuropediatrics. 1999 Apr;30(2):72-6. doi: 10.1055/s-2007-973463. Neuropediatrics. 1999. PMID: 10401688 Clinical Trial.
Sacral aneurysmal bone cyst in a child presenting with radiculopathy.
Derinkuyu BE, Boyunaga OL, Tekin-Orgun L, Ozdemir-Gokce A, Fırat H, Demir E. Derinkuyu BE, et al. Among authors: demir e. Spine J. 2016 Jun;16(6):e391-2. doi: 10.1016/j.spinee.2015.12.022. Epub 2015 Dec 18. Spine J. 2016. PMID: 26707460 No abstract available.
744 results