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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank; Bakker EB; International Parkinsonism Genetics Network; Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J. Wong TH, et al. Among authors: hukema rk. Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9. Brain. 2014. PMID: 24722252
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC. Simón-Sánchez J, et al. Among authors: hukema rk. Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1. Brain. 2012. PMID: 22300876
Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.
Cupidi C, Dijkstra AA, Melhem S, Vernooij MW, Severijnen LA, Hukema RK, Rozemuller AJM, Neumann M, van Swieten JC, Seelaar H. Cupidi C, et al. Among authors: hukema rk. J Neuropathol Exp Neurol. 2019 Jul 1;78(7):665-670. doi: 10.1093/jnen/nlz043. J Neuropathol Exp Neurol. 2019. PMID: 31150092
Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms.
Dijkstra AA, Haify SN, Verwey NA, Prins ND, van der Toorn EC, Rozemuller AJM, Bugiani M, den Dunnen WFA, Todd PK, Charlet-Berguerand N, Willemsen R, Hukema RK, Hoozemans JJM. Dijkstra AA, et al. Among authors: hukema rk. Brain Commun. 2021 Jan 27;3(1):fcab007. doi: 10.1093/braincomms/fcab007. eCollection 2021. Brain Commun. 2021. PMID: 33709078 Free PMC article.
A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LA, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC. Hukema RK, et al. Acta Neuropathol Commun. 2014 Dec 13;2:166. doi: 10.1186/s40478-014-0166-y. Acta Neuropathol Commun. 2014. PMID: 25523491 Free PMC article. Retracted. No abstract available.
The quest for targeted therapy in fragile X syndrome.
Zeidler S, Hukema RK, Willemsen R. Zeidler S, et al. Among authors: hukema rk. Expert Opin Ther Targets. 2015;19(10):1277-81. doi: 10.1517/14728222.2015.1079176. Epub 2015 Aug 14. Expert Opin Ther Targets. 2015. PMID: 26294013
Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LW, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC. Hukema RK, et al. Acta Neuropathol Commun. 2016 Dec 9;4(1):129. doi: 10.1186/s40478-016-0401-9. Acta Neuropathol Commun. 2016. PMID: 27938413 Free PMC article. No abstract available.
40 results