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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J. Balasubramaniam S, et al. Among authors: junckerstorff r. JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159459 Free PMC article.
The case for DNA methylation based molecular profiling to improve diagnostic accuracy for central nervous system embryonal tumors (not otherwise specified) in adults.
Halliday GC, Junckerstorff RC, Bentel JM, Miles A, Jones DTW, Hovestadt V, Capper D, Endersby R, Cole CH, van Hagen T, Gottardo NG. Halliday GC, et al. Among authors: junckerstorff rc. J Clin Neurosci. 2018 Jan;47:163-167. doi: 10.1016/j.jocn.2017.09.013. Epub 2017 Oct 6. J Clin Neurosci. 2018. PMID: 28993028 Free article.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C. Servián-Morilla E, et al. Among authors: junckerstorff r. Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9. Acta Neuropathol Commun. 2019. PMID: 30823891 Free PMC article.
Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working Group.
Gottardo NG, Hansford JR, McGlade JP, Alvaro F, Ashley DM, Bailey S, Baker DL, Bourdeaut F, Cho YJ, Clay M, Clifford SC, Cohn RJ, Cole CH, Dallas PB, Downie P, Doz F, Ellison DW, Endersby R, Fisher PG, Hassall T, Heath JA, Hii HL, Jones DT, Junckerstorff R, Kellie S, Kool M, Kotecha RS, Lichter P, Laughton SJ, Lee S, McCowage G, Northcott PA, Olson JM, Packer RJ, Pfister SM, Pietsch T, Pizer B, Pomeroy SL, Remke M, Robinson GW, Rutkowski S, Schoep T, Shelat AA, Stewart CF, Sullivan M, Taylor MD, Wainwright B, Walwyn T, Weiss WA, Williamson D, Gajjar A. Gottardo NG, et al. Among authors: junckerstorff r. Acta Neuropathol. 2014 Feb;127(2):189-201. doi: 10.1007/s00401-013-1213-7. Epub 2013 Nov 22. Acta Neuropathol. 2014. PMID: 24264598 Free PMC article.
36 results