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Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ. Carta E, et al. Among authors: tijssen ma. J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14. J Biol Chem. 2012. PMID: 22700964 Free PMC article. Clinical Trial.
Hyperekplexia-like syndromes without mutations in the GLRA1 gene.
Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR. Vergouwe MN, et al. Among authors: tijssen ma. Clin Neurol Neurosurg. 1997 Aug;99(3):172-8. doi: 10.1016/s0303-8467(97)00022-x. Clin Neurol Neurosurg. 1997. PMID: 9350397
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ. Rees MI, et al. Among authors: tijssen ma. Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751771 Free PMC article.
Molecular genetic reevaluation of the Dutch hyperekplexia family.
Tijssen MA, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW. Tijssen MA, et al. Arch Neurol. 1995 Jun;52(6):578-82. doi: 10.1001/archneur.1995.00540300052012. Arch Neurol. 1995. PMID: 7763205 Free article.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: tijssen ma. Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10. Mov Disord. 2017. PMID: 28186668 Free article.
353 results