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Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX.
Rossini L, Bonardi CM, Bresolin S, Trevisson E, Marzollo A. Rossini L, et al. Among authors: trevisson e. J Clin Immunol. 2024 Apr 16;44(4):100. doi: 10.1007/s10875-024-01702-z. J Clin Immunol. 2024. PMID: 38625673 No abstract available.
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.
Pelosi L, Morbiato L, Burgardt A, Tonello F, Bartlett AK, Guerra RM, Ferizhendi KK, Desbats MA, Rascalou B, Marchi M, Vázquez-Fonseca L, Agosto C, Zanotti G, Roger-Margueritat M, Alcázar-Fabra M, García-Corzo L, Sánchez-Cuesta A, Navas P, Brea-Calvo G, Trevisson E, Wendisch VF, Pagliarini DJ, Salviati L, Pierrel F. Pelosi L, et al. Among authors: trevisson e. Mol Cell. 2024 Mar 7;84(5):981-989.e7. doi: 10.1016/j.molcel.2024.01.003. Epub 2024 Jan 30. Mol Cell. 2024. PMID: 38295803
COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells.
Pelosi L, Morbiato L, Burgardt A, Tonello F, Bartlett AK, Guerra RM, Ferizhendi KK, Desbats MA, Rascalou B, Marchi M, Vázquez-Fonseca L, Agosto C, Zanotti G, Roger-Margueritat M, Alcázar-Fabra M, García-Corzo L, Sánchez-Cuesta A, Navas P, Brea-Calvo G, Trevisson E, Wendisch VF, Pagliarini DJ, Salviati L, Pierrel F. Pelosi L, et al. Among authors: trevisson e. bioRxiv [Preprint]. 2023 Nov 13:2023.11.13.566839. doi: 10.1101/2023.11.13.566839. bioRxiv. 2023. PMID: 38014142 Free PMC article. Updated. Preprint.
Primary Coenzyme Q10 Deficiency Overview.
Salviati L, Trevisson E, Agosto C, Doimo M, Navas P. Salviati L, et al. Among authors: trevisson e. 2017 Jan 26 [updated 2023 Jun 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Jan 26 [updated 2023 Jun 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28125198 Free Books & Documents. Review.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
Ambra1 deficiency impairs mitophagy in skeletal muscle.
Gambarotto L, Metti S, Chrisam M, Cerqua C, Sabatelli P, Armani A, Zanon C, Spizzotin M, Castagnaro S, Strappazzon F, Grumati P, Cescon M, Braghetta P, Trevisson E, Cecconi F, Bonaldo P. Gambarotto L, et al. Among authors: trevisson e. J Cachexia Sarcopenia Muscle. 2022 Aug;13(4):2211-2224. doi: 10.1002/jcsm.13010. Epub 2022 May 20. J Cachexia Sarcopenia Muscle. 2022. PMID: 35593053 Free PMC article.
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.
Cosmo E, Frizziero L, Miglionico G, De Biasi CS, Bruno M, Trevisson E, Gabbiato I, Midena G, Parrozzani R. Cosmo E, et al. Among authors: trevisson e. Cancers (Basel). 2022 Mar 10;14(6):1423. doi: 10.3390/cancers14061423. Cancers (Basel). 2022. PMID: 35326581 Free PMC article.
91 results