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WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Oliver KL, Trivisano M, Mandelstam SA, De Dominicis A, Francis DI, Green TE, Muir AM, Chowdhary A, Hertzberg C, Goldhahn K, Metreau J, Prager C, Pinner J, Cardamone M, Myers KA, Leventer RJ, Lesca G, Bahlo M, Hildebrand MS, Mefford HC, Kaindl AM, Specchio N, Scheffer IE. Oliver KL, et al. Among authors: de dominicis a. Epilepsia. 2023 May;64(5):1351-1367. doi: 10.1111/epi.17542. Epub 2023 Mar 11. Epilepsia. 2023. PMID: 36779245 Free PMC article.
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.
D'Apice MR, De Dominicis A, Murdocca M, Amati F, Botta A, Sangiuolo F, Lattanzi G, Federici M, Novelli G. D'Apice MR, et al. Among authors: de dominicis a. Acta Myol. 2020 Dec 1;39(4):320-335. doi: 10.36185/2532-1900-036. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458588 Free PMC article.
32 results