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RELN rare variants in myoclonus-dystonia.
Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
Is TOR1A a risk factor in adult-onset primary torsion dystonia?
Groen JL, Ritz K, Tanck MW, van de Warrenburg BP, van Hilten JJ, Aramideh M, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. Mov Disord. 2013 Jun;28(6):827-31. doi: 10.1002/mds.25381. Epub 2013 Mar 4. Mov Disord. 2013. PMID: 23460578
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nürnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. Hum Mol Genet. 2015 Feb 15;24(4):987-93. doi: 10.1093/hmg/ddu513. Epub 2014 Oct 8. Hum Mol Genet. 2015. PMID: 25296916 Free PMC article.
SGCZ mutations are unlikely to be associated with myoclonus dystonia.
Peall KJ, Ritz K, Waite AJ, Groen JL, Morris HR, Baas F, Blake DJ, Tijssen MA. Peall KJ, et al. Among authors: baas f. Neuroscience. 2014 Jul 11;272:88-91. doi: 10.1016/j.neuroscience.2014.04.034. Epub 2014 Apr 30. Neuroscience. 2014. PMID: 24792710
THAP1 mutations are infrequent in spasmodic dysphonia.
Groen JL, Yildirim E, Ritz K, Baas F, van Hilten JJ, van der Meulen FW, Langeveld TP, Tijssen MA. Groen JL, et al. Among authors: baas f. Mov Disord. 2011 Aug 15;26(10):1952-4. doi: 10.1002/mds.23682. Epub 2011 Apr 29. Mov Disord. 2011. PMID: 21538522 No abstract available.
410 results