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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 3
2004 2
2005 2
2006 1
2008 2
2009 4
2010 1
2011 1
2013 1
2014 3
2015 1
2016 4
2017 4
2018 3
2019 2
2020 5
2021 1
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37 results
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Page 1
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Among authors: fiermonte g. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
KRAS-regulated glutamine metabolism requires UCP2-mediated aspartate transport to support pancreatic cancer growth.
Raho S, Capobianco L, Malivindi R, Vozza A, Piazzolla C, De Leonardis F, Gorgoglione R, Scarcia P, Pezzuto F, Agrimi G, Barile SN, Pisano I, Reshkin SJ, Greco MR, Cardone RA, Rago V, Li Y, Marobbio CMT, Sommergruber W, Riley CL, Lasorsa FM, Mills E, Vegliante MC, De Benedetto GE, Fratantonio D, Palmieri L, Dolce V, Fiermonte G. Raho S, et al. Among authors: fiermonte g. Nat Metab. 2020 Dec;2(12):1373-1381. doi: 10.1038/s42255-020-00315-1. Epub 2020 Nov 23. Nat Metab. 2020. PMID: 33230296
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Martinelli D, Fiermonte G, Häberle J, Boenzi S, Goffredo BM, Travaglini L, Agolini E, Porcelli V, Dionisi-Vici C. Martinelli D, et al. Among authors: fiermonte g. Eur J Hum Genet. 2020 Jul;28(7):982-987. doi: 10.1038/s41431-020-0616-x. Epub 2020 Apr 2. Eur J Hum Genet. 2020. PMID: 32242103 Free PMC article. No abstract available.
Cloning, Purification, and Characterization of the Catalytic C-Terminal Domain of the Human 3-Hydroxy-3-methyl glutaryl-CoA Reductase: An Effective, Fast, and Easy Method for Testing Hypocholesterolemic Compounds.
Curcio R, Aiello D, Vozza A, Muto L, Martello E, Cappello AR, Capobianco L, Fiermonte G, Siciliano C, Napoli A, Dolce V. Curcio R, et al. Among authors: fiermonte g. Mol Biotechnol. 2020 Feb;62(2):119-131. doi: 10.1007/s12033-019-00230-1. Mol Biotechnol. 2020. PMID: 31758489
The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and UCP6/SLC25A30) transport sulfur oxyanions, phosphate and dicarboxylates.
Gorgoglione R, Porcelli V, Santoro A, Daddabbo L, Vozza A, Monné M, Di Noia MA, Palmieri L, Fiermonte G, Palmieri F. Gorgoglione R, et al. Among authors: fiermonte g. Biochim Biophys Acta Bioenerg. 2019 Sep 1;1860(9):724-733. doi: 10.1016/j.bbabio.2019.07.010. Epub 2019 Jul 26. Biochim Biophys Acta Bioenerg. 2019. PMID: 31356773 Free article.
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R. Torraco A, et al. Among authors: fiermonte g. Hum Mol Genet. 2018 Oct 15;27(20):3650. doi: 10.1093/hmg/ddy273. Hum Mol Genet. 2018. PMID: 30113620 No abstract available.
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R. Torraco A, et al. Among authors: fiermonte g. J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26. J Neurol. 2017. PMID: 27785568
37 results
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