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HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.
Boztug K, Ding XQ, Hartmann H, Ziesenitz L, Schäffer AA, Diestelhorst J, Pfeifer D, Appaswamy G, Kehbel S, Simon T, Al Jefri A, Lanfermann H, Klein C. Boztug K, et al. Among authors: ding xq. Am J Med Genet A. 2010 Dec;152A(12):3157-63. doi: 10.1002/ajmg.a.33748. Am J Med Genet A. 2010. PMID: 21108402 Free PMC article.
Neurologic manifestations of E coli infection-induced hemolytic-uremic syndrome in adults.
Weissenborn K, Donnerstag F, Kielstein JT, Heeren M, Worthmann H, Hecker H, Schmitt R, Schiffer M, Pasedag T, Schuppner R, Tryc AB, Raab P, Hartmann H, Ding XQ, Hafer C, Menne J, Schmidt BM, Bültmann E, Haller H, Dengler R, Lanfermann H, Giesemann AM. Weissenborn K, et al. Among authors: ding xq. Neurology. 2012 Oct 2;79(14):1466-73. doi: 10.1212/WNL.0b013e31826d5f26. Epub 2012 Sep 19. Neurology. 2012. PMID: 22993286
Quantitative MRI shows cerebral microstructural damage in hemolytic-uremic syndrome patients with severe neurological symptoms but no changes in conventional MRI.
Weissenborn K, Bültmann E, Donnerstag F, Giesemann AM, Götz F, Worthmann H, Heeren M, Kielstein J, Schwarz A, Lanfermann H, Ding XQ. Weissenborn K, et al. Among authors: ding xq. Neuroradiology. 2013 Jul;55(7):819-25. doi: 10.1007/s00234-013-1176-3. Epub 2013 Apr 5. Neuroradiology. 2013. PMID: 23559401
271 results