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Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.
Walvekar AS, Warmoes M, Cheung D, Sikora T, Seyedkatouli N, Gomez-Giro G, Perrone S, Dengler L, Unger F, Santos BFR, Gavotto F, Dong X, Becker-Kettern J, Kwon YJ, Jäger C, Schwamborn JC, Van Bergen NJ, Christodoulou J, Linster CL. Walvekar AS, et al. Among authors: christodoulou j. Cell Mol Biol Lett. 2025 Jan 9;30(1):3. doi: 10.1186/s11658-024-00681-8. Cell Mol Biol Lett. 2025. PMID: 39789421 Free PMC article.
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Jolitz L, et al. Among authors: christodoulou j. Ann Neurol. 2025 Jan 3. doi: 10.1002/ana.27141. Online ahead of print. Ann Neurol. 2025. PMID: 39749750
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: christodoulou j. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
601 results