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2012 2
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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.
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.
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.
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Chhabda S, Sudhakar S, Mankad K, Jorgensen M, Carceller F, Jacques TS, Merve A, Aizpurua M, Chalker J, Garimberti E, D'Arco F. Chhabda S, et al. Childs Nerv Syst. 2021 Jul;37(7):2375-2379. doi: 10.1007/s00381-020-04986-9. Epub 2020 Nov 27. Childs Nerv Syst. 2021. PMID: 33247381
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.
27 results