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Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. de Vries B, et al. Among authors: wan j. Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535. Arch Neurol. 2009. PMID: 19139306
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Among authors: wan j. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
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.
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. 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. Among authors: wan j. Handb Clin Neurol. 2018;148:521-529. doi: 10.1016/B978-0-444-64076-5.00033-8. Handb Clin Neurol. 2018. PMID: 29478597 Review.
6,019 results