| 1 | EXOSC3, PCH1
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| EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
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| Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F.
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| Orphanet J Rare Dis 9:23. doi: 10.1186/1750-1172-9-23.
2014
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| 2 | EXOSC3, PCH1
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| EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
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| Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM.
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| J Neurol 260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7.
2013
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| 3 | EXOSC3, PCH1
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| Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
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| Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.
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| Neurology 80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.
2013
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| 4 | EXOSC3, PCH1
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| Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
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| Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.
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| Nat Genet 44(6):704-8. doi: 10.1038/ng.2254.
2012
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| 5 | PCH1, PCH2A, PCH3, PCH4, PCH5, PCH6
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| Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
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| Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB.
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| Am J Med Genet A 152A(9):2268-76. 2010
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| 6 | 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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| 7 | PCH1, PCH4, PCH5
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| Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings.
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| Albrecht S, Schneider MC, Belmont J, Armstrong DL.
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| Acta Neuropathol 85(4):394-9.
1993
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