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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: ritz k. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
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: ritz k. Neuroscience. 2014 Jul 11;272:88-91. doi: 10.1016/j.neuroscience.2014.04.034. Epub 2014 Apr 30. Neuroscience. 2014. PMID: 24792710
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: ritz k. 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: ritz k. 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.
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, Bloem BR, Vandenberghe W, Crols R, Speelman JD, Baas F, Tijssen MA. Ritz K, et al. J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9. J Neurol Neurosurg Psychiatry. 2009. PMID: 19066193
84 results