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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Among authors: kusters b. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.
Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis.
Philips T, Bento-Abreu A, Nonneman A, Haeck W, Staats K, Geelen V, Hersmus N, Küsters B, Van Den Bosch L, Van Damme P, Richardson WD, Robberecht W. Philips T, et al. Among authors: kusters b. Brain. 2013 Feb;136(Pt 2):471-82. doi: 10.1093/brain/aws339. Epub 2013 Jan 31. Brain. 2013. PMID: 23378219 Free PMC article.
Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study.
Kuiperij HB, Versleijen AA, Beenes M, Verwey NA, Benussi L, Paterlini A, Binetti G, Teunissen CE, Raaphorst J, Schelhaas HJ, Küsters B, Pijnenburg YA, Ghidoni R, Verbeek MM. Kuiperij HB, et al. Among authors: kusters b. J Alzheimers Dis. 2017;55(2):585-595. doi: 10.3233/JAD-160386. J Alzheimers Dis. 2017. PMID: 27662293
TDP-43 accumulation is common in myopathies with rimmed vacuoles.
Küsters B, van Hoeve BJ, Schelhaas HJ, Ter Laak H, van Engelen BG, Lammens M. Küsters B, et al. Acta Neuropathol. 2009 Feb;117(2):209-11. doi: 10.1007/s00401-008-0471-2. Epub 2008 Dec 9. Acta Neuropathol. 2009. PMID: 19066918 No abstract available.
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. Duarri A, et al. Among authors: kusters b. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
First patho-anatomical investigation of the brain of a SCA19 patient.
Seidel K, Küsters B, den Dunnen WF, Bouzrou M, Hageman G, Korf HW, Schelhaas HJ, Verbeek D, Rüb U. Seidel K, et al. Among authors: kusters b. Neuropathol Appl Neurobiol. 2014 Aug;40(5):640-4. doi: 10.1111/nan.12128. Neuropathol Appl Neurobiol. 2014. PMID: 24612451 No abstract available.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S. Bachmann C, et al. Among authors: kusters b. Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1. Hum Mutat. 2019. PMID: 30932294 Free PMC article.
Copy number variation analysis and methylome profiling of a GNAQ-mutant primary meningeal melanocytic tumor and its liver metastasis.
Küsters-Vandevelde HV, Kruse V, Van Maerken T, Boterberg T, Pfundt R, Creytens D, Van den Broecke C, Machielsen TC, Koelsche C, von Deimling A, Küsters B, Groenen PJ, Wesseling P, Blokx WA. Küsters-Vandevelde HV, et al. Among authors: kusters b. Exp Mol Pathol. 2017 Feb;102(1):25-31. doi: 10.1016/j.yexmp.2016.12.006. Epub 2016 Dec 11. Exp Mol Pathol. 2017. PMID: 27974237
133 results