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Year Number of Results
1993 1
2005 2
2006 3
2007 5
2008 7
2009 5
2010 3
2011 2
2012 4
2013 4
2014 6
2015 10
2016 6
2017 5
2018 9
2019 9
2020 6
2021 10
2022 5
2023 2
2024 4

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Page 1
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.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. Paganini I, et al. Among authors: trevisson e. Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22. Eur J Hum Genet. 2015. PMID: 25335493 Free PMC article.
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.
Clinical syndromes associated with Coenzyme Q10 deficiency.
Alcázar-Fabra M, Trevisson E, Brea-Calvo G. Alcázar-Fabra M, et al. Among authors: trevisson e. Essays Biochem. 2018 Jul 20;62(3):377-398. doi: 10.1042/EBC20170107. Print 2018 Jul 20. Essays Biochem. 2018. PMID: 30030365 Review.
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.
Coenzyme Q deficiency in muscle.
Trevisson E, DiMauro S, Navas P, Salviati L. Trevisson E, et al. Curr Opin Neurol. 2011 Oct;24(5):449-56. doi: 10.1097/WCO.0b013e32834ab528. Curr Opin Neurol. 2011. PMID: 21844807 Review.
Coenzyme Q biosynthesis in health and disease.
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L. Acosta MJ, et al. Among authors: trevisson e. Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7. Biochim Biophys Acta. 2016. PMID: 27060254 Free article. Review.
85 results