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Neuropathy target esterase (NTE): overview and future.
Richardson RJ, Hein ND, Wijeyesakere SJ, Fink JK, Makhaeva GF. Richardson RJ, et al. Among authors: fink jk. Chem Biol Interact. 2013 Mar 25;203(1):238-44. doi: 10.1016/j.cbi.2012.10.024. Epub 2012 Dec 3. Chem Biol Interact. 2013. PMID: 23220002 Review.
Neuropathy target esterase gene mutations cause motor neuron disease.
Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK. Rainier S, et al. Among authors: fink jk. Am J Hum Genet. 2008 Mar;82(3):780-5. doi: 10.1016/j.ajhg.2007.12.018. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18313024 Free PMC article.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Boone PM, et al. Among authors: fink jk. Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065914 Free PMC article.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. Among authors: fink jk. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.
Porphyric neuropathy.
Albers JW, Fink JK. Albers JW, et al. Among authors: fink jk. Muscle Nerve. 2004 Oct;30(4):410-22. doi: 10.1002/mus.20137. Muscle Nerve. 2004. PMID: 15372536 Free article. Review.
105 results