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COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: maffei m. Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38702428
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.
Ceccarini G, Akinci B, Araujo-Vilar D, Beghini M, Brown RJ, Carrion Tudela J, Corradin V, Donadille B, Jerez Ruiz J, Jeru I, Lattanzi G, Maffei M, McIlroy GD, Nobécourt E, Perez de Tudela N, Rochford JJ, Sanders R, von Schnurbein J, Tews D, Vantyghem MC, Vatier C, Vigouroux C, Santini F. Ceccarini G, et al. Among authors: maffei m. Ann Endocrinol (Paris). 2024 Mar 5:S0003-4266(24)00036-2. doi: 10.1016/j.ando.2024.03.002. Online ahead of print. Ann Endocrinol (Paris). 2024. PMID: 38452868
SARS-CoV-2 Infection Alters the Phenotype and Gene Expression of Adipocytes.
Quaranta P, Scabia G, Storti B, Dattilo A, Quintino L, Perrera P, Di Primio C, Costa M, Pistello M, Bizzarri R, Maffei M. Quaranta P, et al. Among authors: maffei m. Int J Mol Sci. 2024 Feb 8;25(4):2086. doi: 10.3390/ijms25042086. Int J Mol Sci. 2024. PMID: 38396763 Free PMC article.
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C. Pietra A, et al. Among authors: maffei m. Neurol Genet. 2023 Nov 14;9(6):e200098. doi: 10.1212/NXG.0000000000200098. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235043 Free PMC article.
Experimental Analysis of Energy Transfers between a Quantum Emitter and Light Fields.
Maillette de Buy Wenniger I, Thomas SE, Maffei M, Wein SC, Pont M, Belabas N, Prasad S, Harouri A, Lemaître A, Sagnes I, Somaschi N, Auffèves A, Senellart P. Maillette de Buy Wenniger I, et al. Among authors: maffei m. Phys Rev Lett. 2023 Dec 29;131(26):260401. doi: 10.1103/PhysRevLett.131.260401. Phys Rev Lett. 2023. PMID: 38215371
382 results