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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
2004 | 1 |
2008 | 1 |
2010 | 1 |
2011 | 1 |
2013 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 80746
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Page 1
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3.
Eur J Med Genet. 2013.
PMID: 23562994
Review.
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.
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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
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Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation.
Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR.
Paushkin SV, et al.
Cell. 2004 Apr 30;117(3):311-21. doi: 10.1016/s0092-8674(04)00342-3.
Cell. 2004.
PMID: 15109492
Free article.
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Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.
Barth PG.
Barth PG.
Brain Dev. 1993 Nov-Dec;15(6):411-22. doi: 10.1016/0387-7604(93)90080-r.
Brain Dev. 1993.
PMID: 8147499
Review.
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