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SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M. Jurkute N, et al. Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31. Ann Neurol. 2019. PMID: 31298765 Free PMC article.
Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System.
Goode EC, Clark AB, Mells GF, Srivastava B, Spiess K, Gelson WTH, Trivedi PJ, Lynch KD, Castren E, Vesterhus MN, Karlsen TH, Ji SG, Anderson CA, Thorburn D, Hudson M, Heneghan MA, Aldersley MA, Bathgate A, Sandford RN, Alexander GJ, Chapman RW, Walmsley M; UK-PSC Consortium; Hirschfield GM, Rushbrook SM. Goode EC, et al. Hepatology. 2019 May;69(5):2120-2135. doi: 10.1002/hep.30479. Epub 2019 Mar 4. Hepatology. 2019. PMID: 30566748 Free PMC article.