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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 Aug;32(8):938-946. doi: 10.1038/s41431-024-01615-w. Epub 2024 May 3. Eur J Hum Genet. 2024. PMID: 38702428 Free PMC article.
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 Jul;85(4):308-316. doi: 10.1016/j.ando.2024.03.002. Epub 2024 Mar 5. 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.
383 results