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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, Ibrahim Aydin H, Ceylaner 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, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: merve a. Brain. 2021 Dec 27:awab484. doi: 10.1093/brain/awab484. Online ahead of print. Brain. 2021. PMID: 34957489

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Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C.

Khoo A, Naidu S, Wijayendran SB, Merve A, Bremner F, Sidhu MK. Khoo A, et al. Among authors: merve a. BMJ Neurol Open. 2021 Jun 16;3(1):e000180. doi: 10.1136/bmjno-2021-000180. eCollection 2021. BMJ Neurol Open. 2021. PMID: 34223155 Free PMC article.

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Ectopic thoracic meningioma: a diagnostically challenging case.

Salehi M, Merve A, Yancheva S, Kadlec J. Salehi M, et al. Among authors: merve a. BMJ Case Rep. 2021 May 26;14(5):e242020. doi: 10.1136/bcr-2021-242020. BMJ Case Rep. 2021. PMID: 34039546

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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. Among authors: merve a. 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.

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Differential Diagnoses of Inclusion Body Myositis.

Vivekanandam V, Bugiardini E, Merve A, Parton M, Morrow JM, Hanna MG, Machado PM. Vivekanandam V, et al. Among authors: merve a. Neurol Clin. 2020 Aug;38(3):697-710. doi: 10.1016/j.ncl.2020.03.014. Neurol Clin. 2020. PMID: 32703477 Review.

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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. Among authors: merve a. 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

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Problem solving in clinical practice: an unusual cause of multifocal brain lesions.

Hodgson JM, Douch C, Hartley L, Merve A, Devadass A, Chatterjee F. Hodgson JM, et al. Among authors: merve a. Arch Dis Child Educ Pract Ed. 2021 Oct;106(5):299-303. doi: 10.1136/archdischild-2020-319655. Epub 2020 Oct 21. Arch Dis Child Educ Pract Ed. 2021. PMID: 33087403 No abstract available.

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CD8+ encephalitis: a severe but treatable HIV-related acute encephalopathy.

Zarkali A, Gorgoraptis N, Miller R, John L, Merve A, Thust S, Jager R, Kullmann D, Swayne O. Zarkali A, et al. Among authors: merve a. Pract Neurol. 2017 Jan;17(1):42-46. doi: 10.1136/practneurol-2016-001483. Epub 2016 Nov 1. Pract Neurol. 2017. PMID: 27803046

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Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA^Gly (MT-TG) variant.

Poole OV, Horga A, Hardy SA, Bugiardini E, Woodward CE, Hargreaves IP, Merve A, Quinlivan R, Taylor RW, Hanna MG, Pitceathly RDS. Poole OV, et al. Among authors: merve a. Neurol Genet. 2020 Mar 18;6(2):e413. doi: 10.1212/NXG.0000000000000413. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337339 Free PMC article. No abstract available.

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Intraosseous Thoracic Schwannoma: Case Report and Review of the Literature.

Zaidman N, Merve A, Russo V. Zaidman N, et al. Among authors: merve a. World Neurosurg. 2019 Oct;130:313-316. doi: 10.1016/j.wneu.2019.06.222. Epub 2019 Jul 8. World Neurosurg. 2019. PMID: 31295618 Review.

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