| 1 | PCH2A, PCH4, TSEN54
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| TSEN54 mutations cause pontocerebellar hypoplasia type 5.
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| Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F.
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| Eur J Hum Genet 19(6):724-6. Epub 2011 Feb 2.
2011
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| 2 | PCH4, TSEN54
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| Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
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| Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY.
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| J Child Neurol 26(3):288-94. Review.
2011
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| 3 | TSEN54
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| Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
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| Kasher PR, Namavar Y, van Tijn P, Fluiter K, Sizarov A, Kamermans M, Grierson AJ, Zivkovic D, Baas F.
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| Hum Mol Genet 20(8):1574-84. Epub 2011 Jan 27.
2011
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| 4 | PCH2A, PCH4, TSEN54
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| Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
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| 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.
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| Neurology 75(16):1459-64.
2010
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| 5 | PCH1, PCH2A, PCH2B, PCH2C, PCH4, TSEN2, TSEN34, TSEN54, VRK1
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| Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.
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| Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E.
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| Am J Hum Genet 85(2):281-9. Epub 2009 Jul 30.
2009
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| 6 | PCH4, TSEN54
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| Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia.
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| Bailey KA, Aldinger KA.
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| Clin Genet 75(5):427-8. No abstract available.
2009
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| 7 | PCH2A, PCH4, TSEN54
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| tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
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| 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.
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| Nat Genet 40(9):1113-8. 2008
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| 8 | CLP1, TSEN15, TSEN2, TSEN34, TSEN54
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| Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation.
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| Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR.
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| Cell 117(3):311-21. 2004
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| 9 | PCH2A, PCH2B, PCH2C, TSEN54
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| Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.
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| Barth PG.
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| Brain Dev 15(6):411-22. Review. 1993
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