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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Jinks RN, et al. Among authors: harding b. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. Brain. 2015. PMID: 26070982 Free PMC article.
The Neuropathology of MIRAGE Syndrome.
Viaene AN, Harding BN. Viaene AN, et al. J Neuropathol Exp Neurol. 2020 Apr 1;79(4):458-462. doi: 10.1093/jnen/nlaa009. J Neuropathol Exp Neurol. 2020. PMID: 32106287
Dysembryoplastic neuroepithelial tumor. Features in 16 patients.
Raymond AA, Halpin SF, Alsanjari N, Cook MJ, Kitchen ND, Fish DR, Stevens JM, Harding BN, Scaravilli F, Kendall B, et al. Raymond AA, et al. Among authors: harding bn. Brain. 1994 Jun;117 ( Pt 3):461-75. doi: 10.1093/brain/117.3.461. Brain. 1994. PMID: 8032857
394 results