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Results by year

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

Year Number of Results
1954 1
1959 1
1976 1
1977 1
1984 1
1990 3
1993 2
1995 1
1997 3
1998 2
1999 4
2000 4
2001 1
2002 2
2003 1
2004 1
2005 3
2006 1
2007 8
2008 5
2009 6
2010 8
2011 10
2012 4
2013 5
2014 5
2015 3
2016 6
2017 5
2018 4
2019 2
2020 6
2021 3
2022 9
2023 7
2024 1

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Similar articles for PMID: 18711368

111 results

Results by year

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Page 1
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F. Namavar Y, et al. Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368912 Free PMC article.
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
Battini R, D'Arrigo S, Cassandrini D, Guzzetta A, Fiorillo C, Pantaleoni C, Romano A, Alfei E, Cioni G, Santorelli FM. Battini R, et al. J Child Neurol. 2014 Apr;29(4):520-5. doi: 10.1177/0883073812470002. Epub 2013 Jan 9. J Child Neurol. 2014. PMID: 23307886
MR findings in pontocerebellar hypoplasia.
Uhl M, Pawlik H, Laubenberger J, Darge K, Baborie A, Korinthenberg R, Langer M. Uhl M, et al. Pediatr Radiol. 1998 Jul;28(7):547-51. doi: 10.1007/s002470050410. Pediatr Radiol. 1998. PMID: 9662582
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E. Cassandrini D, et al. Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173. Neurology. 2010. PMID: 20956791
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
111 results