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

Year Number of Results
2002 1
2003 1
2004 1
2005 1
2006 1
2008 1
2009 1
2011 3
2012 2
2013 1
2014 1
2015 2
2017 6
2018 3
2019 3
2020 2
2021 6
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2024 0

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PubMed for id: 55773

38 results

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Page 1
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gérard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J. Ivanova EL, et al. Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823707 Free PMC article.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG. Marin-Valencia I, et al. Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823706 Free PMC article.
Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH.
Huang W, Liu Z, Yang F, Zhou H, Yong X, Yang X, Zhou Y, Xue L, Zhang Y, Liu D, Meng W, Zhang W, Zhang X, Shen X, Sun Q, Li L, Ma C, Wei Y, Billadeau DD, Mo X, Jia D. Huang W, et al. Proc Natl Acad Sci U S A. 2019 Nov 5;116(45):22598-22608. doi: 10.1073/pnas.1909316116. Epub 2019 Oct 17. Proc Natl Acad Sci U S A. 2019. PMID: 31624125 Free PMC article.
38 results