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WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y, So V, Tijssen MAJ, Verbeek DS, Reggiori F, Mauthe M. Cong Y, et al. Among authors: tijssen maj. Autophagy. 2021 Dec;17(12):3908-3923. doi: 10.1080/15548627.2021.1899669. Epub 2021 Apr 12. Autophagy. 2021. PMID: 33843443 Free PMC article. Review.
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. 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.
Cortical pencil lining on SWI MRI in NBIA and healthy aging.
van der Weijden MCM, van Laar PJ, Lambrechts RA, Verbeek DS, Tijssen MAJ. van der Weijden MCM, et al. Among authors: tijssen maj. BMC Neurol. 2019 Oct 14;19(1):233. doi: 10.1186/s12883-019-1471-7. BMC Neurol. 2019. PMID: 31607263 Free PMC article.
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
van der Weijden MCM, Rodriguez-Contreras D, Delnooz CCS, Robinson BG, Condon AF, Kielhold ML, Stormezand GN, Ma KY, Dufke C, Williams JT, Neve KA, Tijssen MAJ, Verbeek DS. van der Weijden MCM, et al. Among authors: tijssen maj. Mov Disord. 2021 Mar;36(3):729-739. doi: 10.1002/mds.28385. Epub 2020 Nov 16. Mov Disord. 2021. PMID: 33200438 Free PMC article.
Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
Huang M, Nibbeling EAR, Lagrand TJ, Souza IA, Groen JL, Gandini MA, Zhang FX, Koelman JHTM, Adir N, Sinke RJ, Zamponi GW, Tijssen MAJ, Verbeek DS. Huang M, et al. Among authors: tijssen maj. Mol Brain. 2021 Jan 21;14(1):18. doi: 10.1186/s13041-021-00736-3. Mol Brain. 2021. PMID: 33478561 Free PMC article.
Signaling-Biased and Constitutively Active Dopamine D2 Receptor Variant.
Rodriguez-Contreras D, Condon AF, Buck DC, Asad N, Dore TM, Verbeek DS, Tijssen MAJ, Shinde U, Williams JT, Neve KA. Rodriguez-Contreras D, et al. Among authors: tijssen maj. ACS Chem Neurosci. 2021 Jun 2;12(11):1873-1884. doi: 10.1021/acschemneuro.0c00712. Epub 2021 May 11. ACS Chem Neurosci. 2021. PMID: 33974399 Free PMC article.
357 results