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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: jen jc. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.
Episodic ataxias.
Jen JC, Wan J. Jen JC, et al. Handb Clin Neurol. 2018;148:521-529. doi: 10.1016/B978-0-444-64076-5.00033-8. Handb Clin Neurol. 2018. PMID: 29478597 Review.
Episodic ataxias.
Jen JC, Wan J. Jen JC, et al. Handb Clin Neurol. 2018;155:205-215. doi: 10.1016/B978-0-444-64189-2.00013-5. Handb Clin Neurol. 2018. PMID: 29891059 Review.
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. Among authors: jen jc. Front Neurol. 2011 Sep 9;2:51. doi: 10.3389/fneur.2011.00051. eCollection 2011. Front Neurol. 2011. PMID: 21927611 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. Among authors: jen jc. Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254. Nat Genet. 2012. PMID: 22544365 Free PMC article.
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L, Jahanbakhsh S, Nelson ADL, Ray D, Scott DD, Hennefarth MR, Moutal A, Perez-Miller S, Ambrose AJ, Al-Shamari A, Coursodon P, Meechoovet B, Reiman R, Lyons E, Beilstein M, Chapman E, Morris QD, Van Keuren-Jensen K, Hughes TR, Khanna R, Koehler C, Jen J, Gokhale V, Khanna M. François-Moutal L, et al. ACS Chem Biol. 2018 Oct 19;13(10):3000-3010. doi: 10.1021/acschembio.8b00745. Epub 2018 Sep 6. ACS Chem Biol. 2018. PMID: 30141626 Free PMC article.
88 results