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

Year Number of Results
1978 1
1982 2
1983 1
1984 1
1985 3
1986 2
1987 6
1988 1
1989 3
1990 2
1992 3
1993 2
1994 3
1995 2
1996 1
1997 3
1998 6
1999 2
2000 4
2001 4
2002 7
2003 5
2004 4
2005 10
2006 14
2007 16
2008 12
2009 8
2010 11
2011 13
2012 9
2013 12
2014 13
2015 9
2016 7
2017 18
2018 18
2019 12
2020 11
2021 16
2022 16
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258 results
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Page 1
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: bugiani m. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: bugiani m. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Astroglia in Leukodystrophies.
Jorge MS, Bugiani M. Jorge MS, et al. Among authors: bugiani m. Adv Exp Med Biol. 2019;1175:199-225. doi: 10.1007/978-981-13-9913-8_9. Adv Exp Med Biol. 2019. PMID: 31583590 Review.
Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies.
de Waard DM, Bugiani M. de Waard DM, et al. Among authors: bugiani m. Front Cell Neurosci. 2020 Nov 19;14:608073. doi: 10.3389/fncel.2020.608073. eCollection 2020. Front Cell Neurosci. 2020. PMID: 33328899 Free PMC article. Review.
Alexander Disease.
Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A. Tavasoli A, et al. Among authors: bugiani m. J Child Neurol. 2017 Feb;32(2):184-187. doi: 10.1177/0883073816673263. Epub 2016 Oct 10. J Child Neurol. 2017. PMID: 28112050
Pathology of the neurovascular unit in leukodystrophies.
Zarekiani P, Breur M, Wolf NI, de Vries HE, van der Knaap MS, Bugiani M. Zarekiani P, et al. Among authors: bugiani m. Acta Neuropathol Commun. 2021 Jun 3;9(1):103. doi: 10.1186/s40478-021-01206-6. Acta Neuropathol Commun. 2021. PMID: 34082828 Free PMC article.
Cortical Pathology in Vanishing White Matter.
Man JHK, van Gelder CAGH, Breur M, Okkes D, Molenaar D, van der Sluis S, Abbink T, Altelaar M, van der Knaap MS, Bugiani M. Man JHK, et al. Among authors: bugiani m. Cells. 2022 Nov 12;11(22):3581. doi: 10.3390/cells11223581. Cells. 2022. PMID: 36429009 Free article.
258 results