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Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Among authors: kok f. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
Cockayne syndrome type A: novel mutations in eight typical patients.
Bertola DR, Cao H, Albano LMJ, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA. Bertola DR, et al. Among authors: kok f. J Hum Genet. 2006;51(8):701-705. doi: 10.1007/s10038-006-0011-7. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865293
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M. Mitne-Neto M, et al. Among authors: kok f. Eur J Hum Genet. 2007 Dec;15(12):1276-9. doi: 10.1038/sj.ejhg.5201924. Epub 2007 Sep 26. Eur J Hum Genet. 2007. PMID: 17895902
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Macedo-Souza LI, et al. Among authors: kok f. Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4. Ann Hum Genet. 2009. PMID: 19344448
621 results