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2012 2
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2017 5
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Page 1
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Differential Diagnoses of Inclusion Body Myositis.
Vivekanandam V, Bugiardini E, Merve A, Parton M, Morrow JM, Hanna MG, Machado PM. Vivekanandam V, et al. Neurol Clin. 2020 Aug;38(3):697-710. doi: 10.1016/j.ncl.2020.03.014. Neurol Clin. 2020. PMID: 32703477 Review.
Repurposing Vandetanib plus Everolimus for the Treatment of ACVR1-Mutant Diffuse Intrinsic Pontine Glioma.
Carvalho DM, Richardson PJ, Olaciregui N, Stankunaite R, Lavarino C, Molinari V, Corley EA, Smith DP, Ruddle R, Donovan A, Pal A, Raynaud FI, Temelso S, Mackay A, Overington JP, Phelan A, Sheppard D, Mackinnon A, Zebian B, Al-Sarraj S, Merve A, Pryce J, Grill J, Hubank M, Cruz O, Morales La Madrid A, Mueller S, Carcaboso AM, Carceller F, Jones C. Carvalho DM, et al. Cancer Discov. 2022 Feb;12(2):416-431. doi: 10.1158/2159-8290.CD-20-1201. Epub 2021 Sep 22. Cancer Discov. 2022. PMID: 34551970 Free PMC article.
MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis.
Malik P, Antonini L, Mannam P, Aboobacker FN, Merve A, Gilmour K, Rao K, Kumar S, Mani SE, Eleftheriou D, Rao A, Hemingway C, Sudhakar SV, Bartram J, Mankad K. Malik P, et al. AJNR Am J Neuroradiol. 2021 Nov;42(11):2077-2085. doi: 10.3174/ajnr.A7292. Epub 2021 Oct 7. AJNR Am J Neuroradiol. 2021. PMID: 34620587 Free PMC article.
DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study.
Pickles JC, Fairchild AR, Stone TJ, Brownlee L, Merve A, Yasin SA, Avery A, Ahmed SW, Ogunbiyi O, Gonzalez Zapata J, Peary AF, Edwards M, Wilkhu L, Dryden C, Ladon D, Kristiansen M, Rowe C, Kurian KM, Nicoll JAR, Mitchell C, Bloom T, Hilton DA, Al-Sarraj S, Doey L, Johns PN, Bridges LR, Chakrabarty A, Ismail A, Rathi N, Syed K, Lammie GA, Limback-Stanic C, Smith C, Torgersen A, Rae F, Hill RM, Clifford SC, Grabovska Y, Williamson D, Clarke M, Jones C, Capper D, Sill M, von Deimling A, Pfister SM, Jones DTW, Hargrave D, Chalker J, Jacques TS. Pickles JC, et al. Lancet Child Adolesc Health. 2020 Feb;4(2):121-130. doi: 10.1016/S2352-4642(19)30342-6. Epub 2019 Nov 27. Lancet Child Adolesc Health. 2020. PMID: 31786093
27 results