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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study; Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM. Josifova DJ, et al. Among authors: hoogenraad cc. Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. doi: 10.1093/hmg/ddw082. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27005418
Plasticity-related gene 5: A novel surface autoantigen in paraneoplastic cerebellar degeneration.
van Coevorden-Hameete MH, de Graaff E, Titulaer MJ, Hulsenboom E, Sabater L, Hoogenraad CC, Sillevis Smitt PA. van Coevorden-Hameete MH, et al. Among authors: hoogenraad cc. Neurol Neuroimmunol Neuroinflamm. 2015 Sep 24;2(5):e156. doi: 10.1212/NXI.0000000000000156. eCollection 2015 Oct. Neurol Neuroimmunol Neuroinflamm. 2015. PMID: 26445730 Free PMC article. No abstract available.
Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity.
Kevenaar JT, Bianchi S, van Spronsen M, Olieric N, Lipka J, Frias CP, Mikhaylova M, Harterink M, Keijzer N, Wulf PS, Hilbert M, Kapitein LC, de Graaff E, Ahkmanova A, Steinmetz MO, Hoogenraad CC. Kevenaar JT, et al. Among authors: hoogenraad cc. Curr Biol. 2016 Apr 4;26(7):849-61. doi: 10.1016/j.cub.2016.01.048. Epub 2016 Mar 3. Curr Biol. 2016. PMID: 26948876 Free article.
The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies.
van Coevorden-Hameete MH, de Bruijn MAAM, de Graaff E, Bastiaansen DAEM, Schreurs MWJ, Demmers JAA, Ramberger M, Hulsenboom ESP, Nagtzaam MMP, Boukhrissi S, Veldink JH, Verschuuren JJGM, Hoogenraad CC, Sillevis Smitt PAE, Titulaer MJ. van Coevorden-Hameete MH, et al. Among authors: hoogenraad cc. Brain. 2019 Jun 1;142(6):1631-1643. doi: 10.1093/brain/awz094. Brain. 2019. PMID: 31009048 Free PMC article.
237 results