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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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2011 | 1 |
2012 | 1 |
2013 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.
Brain. 2016.
PMID: 27543974
Free PMC article.
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.
Wan J, Mamsa H, Johnston JL, Spriggs EL, Singer HS, Zee DS, Al-Bayati AR, Baloh RW, Jen JC; CINCH Investigators.
Wan J, et al.
Front Neurol. 2011 Sep 9;2:51. doi: 10.3389/fneur.2011.00051. eCollection 2011.
Front Neurol. 2011.
PMID: 21927611
Free PMC article.
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Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
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.
Rudnik-Schöneborn S, et al.
Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.
Neurology. 2013.
PMID: 23284067
Free PMC article.
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Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria.
Steffen J, Vashisht AA, Wan J, Jen JC, Claypool SM, Wohlschlegel JA, Koehler CM.
Steffen J, et al.
Mol Biol Cell. 2017 Mar 1;28(5):600-612. doi: 10.1091/mbc.E16-07-0545. Epub 2017 Jan 5.
Mol Biol Cell. 2017.
PMID: 28057766
Free PMC article.
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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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