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2018 1
2020 2
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2022 4
2024 0

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Page 1
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS. Lee MM, et al. Among authors: spanou m. Ann Clin Transl Neurol. 2022 Dec;9(12):1941-1952. doi: 10.1002/acn3.51687. Epub 2022 Nov 3. Ann Clin Transl Neurol. 2022. PMID: 36325744 Free PMC article. Review.
Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population.
Anand G, Vasallo G, Spanou M, Thomas S, Pike M, Kariyawasam DS, Mehta S, Parry A, Durie-Gair J, Nicholson J, Lascelles K, Everett V, Gibbon FM, Jarvis N, Elston J, Evans DG, Halliday D. Anand G, et al. Among authors: spanou m. Arch Dis Child. 2018 May;103(5):463-469. doi: 10.1136/archdischild-2017-313154. Epub 2018 Mar 13. Arch Dis Child. 2018. PMID: 29535107
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I, Betzler C, Coubes C, Hartmann H, Kaplan JD, Ballhausen D, Koch J, Lotte J, Mohammadi MH, Rohrbach M, Dinopoulos A, Wermuth M, Willis D, Brugger K, Wevers RA, Boltshauser E, Bierau J, Mayr JA, Wortmann SB. Rymen D, et al. Among authors: spanou m. Genet Med. 2020 Oct;22(10):1589-1597. doi: 10.1038/s41436-020-0933-z. Epub 2020 Aug 21. Genet Med. 2020. PMID: 32820246 Free article.
Longitudinal Data in Patients with Niemann-Pick Type C Disease Under Combined High Intrathecal and Low Intravenous Dose of 2-hydroxylpropyl-β-cyclodextrin.
Bountouvi E, Giorgi M, Papadopoulou A, Blennow K, Björkhem I, Tsirouda M, Kanellakis S, Fryganas A, Spanou M, Georgaki I, Asprogeraka S, Dinopoulos A. Bountouvi E, et al. Among authors: spanou m. Innov Clin Neurosci. 2021 Jan 1;18(1-3):11-16. eCollection 2021 Jan-Mar. Innov Clin Neurosci. 2021. PMID: 34150357 Free PMC article.