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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2006 | 1 |
2012 | 1 |
2013 | 1 |
2024 | 0 |
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Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.
Neurology. 2013.
PMID: 23284067
Free PMC article.
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
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.
Wan J, et al.
Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.
Nat Genet. 2012.
PMID: 22544365
Free PMC article.
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Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations.
Sicotte NL, Salamon G, Shattuck DW, Hageman N, Rüb U, Salamon N, Drain AE, Demer JL, Engle EC, Alger JR, Baloh RW, Deller T, Jen JC.
Sicotte NL, et al.
Neurology. 2006 Aug 8;67(3):519-21. doi: 10.1212/01.wnl.0000227960.38262.0c.
Neurology. 2006.
PMID: 16894121
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