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PYROXD1-associated myopathy.
D'Costa MS, Bugiardini E, Merve A, Morrow JM. D'Costa MS, et al. Among authors: merve a. BMJ Case Rep. 2024 Mar 29;17(3):e259907. doi: 10.1136/bcr-2024-259907. BMJ Case Rep. 2024. PMID: 38553017
Pediatric nasal chondromesenchymal hamartomas: a case series.
Avsenik J, Albalkhi I, Prabhu SP, Radhakrishnan R, Goetti R, Jaju A, Merve A, Biswas A, Mankad K. Avsenik J, et al. Among authors: merve a. Neuroradiology. 2024 Mar;66(3):437-441. doi: 10.1007/s00234-023-03276-w. Epub 2024 Jan 11. Neuroradiology. 2024. PMID: 38206352 Review.
Translating metagenomics into clinical practice for complex paediatric neurological presentations.
Penner J, Hassell J, Brown JR, Mankad K, Storey N, Atkinson L, Ranganathan N, Lennon A, Lee JCD, Champsas D, Kopec A, Shah D, Venturini C, Dixon G, De S, Hatcher J, Harris K, Aquilina K, Kusters MA, Moshal K, Shingadia D, Worth AJJ, Lucchini G, Merve A, Jacques TS, Bamford A, Kaliakatsos M, Breuer J, Morfopoulou S. Penner J, et al. Among authors: merve a. J Infect. 2023 Nov;87(5):451-458. doi: 10.1016/j.jinf.2023.08.002. Epub 2023 Aug 7. J Infect. 2023. PMID: 37557958 No abstract available.
Anti-HMGCR myopathy: barriers to prompt recognition.
Barp A, Merve A, Shah S, Desikan M, Hanna MG, Bugiardini E. Barp A, et al. Among authors: merve a. Pract Neurol. 2023 Jun;23(3):239-242. doi: 10.1136/pn-2022-003589. Epub 2022 Dec 23. Pract Neurol. 2023. PMID: 36564213
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: merve a. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
Congenital orbital teratoma: A case report with foetal presentation.
Wheeler M, Pergoretti K, Gore S, D'Arco F, Merve A, Mankad K. Wheeler M, et al. Among authors: merve a. Childs Nerv Syst. 2022 Nov;38(11):2217-2221. doi: 10.1007/s00381-022-05576-7. Epub 2022 Jul 6. Childs Nerv Syst. 2022. PMID: 35794360
Muscle biopsy in myositis: What the rheumatologist needs to know.
Merve A, Schneider U, Kara E, Papadopoulou C, Stenzel W. Merve A, et al. Best Pract Res Clin Rheumatol. 2022 Jun;36(2):101763. doi: 10.1016/j.berh.2022.101763. Epub 2022 Jun 28. Best Pract Res Clin Rheumatol. 2022. PMID: 35773136 Review.
41 results