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Results by year

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

Year Number of Results
1983 1
1985 1
1989 1
1993 1
1995 5
1997 1
1998 2
1999 1
2000 6
2001 4
2002 13
2003 15
2004 16
2005 9
2006 10
2007 14
2008 11
2009 14
2010 22
2011 23
2012 17
2013 16
2014 23
2015 31
2016 11
2017 13
2018 15
2019 22
2020 25
2021 16
2022 24
2023 7
2024 0

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PubMed for id: 7846

352 results

Results by year

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Page 1
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S. Schröter J, et al. Eur J Hum Genet. 2022 Mar;30(3):298-306. doi: 10.1038/s41431-021-01027-0. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35017693 Free PMC article.
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM; Care4Rare Canada Consortium; O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC. Jurgens JA, et al. Eur J Hum Genet. 2021 May;29(5):816-826. doi: 10.1038/s41431-020-00804-7. Epub 2021 Mar 1. Eur J Hum Genet. 2021. PMID: 33649541 Free PMC article.
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
Bamba Y, Shofuda T, Kato M, Pooh RK, Tateishi Y, Takanashi J, Utsunomiya H, Sumida M, Kanematsu D, Suemizu H, Higuchi Y, Akamatsu W, Gallagher D, Miller FD, Yamasaki M, Kanemura Y, Okano H. Bamba Y, et al. Mol Brain. 2016 Jul 19;9(1):70. doi: 10.1186/s13041-016-0246-y. Mol Brain. 2016. PMID: 27431206 Free PMC article.
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. Yokoi S, et al. Sci Rep. 2015 Oct 23;5:15165. doi: 10.1038/srep15165. Sci Rep. 2015. PMID: 26493046 Free PMC article.
352 results