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Page 1
Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis.
Pfisterer U, Petukhov V, Demharter S, Meichsner J, Thompson JJ, Batiuk MY, Asenjo-Martinez A, Vasistha NA, Thakur A, Mikkelsen J, Adorjan I, Pinborg LH, Pers TH, von Engelhardt J, Kharchenko PV, Khodosevich K. Pfisterer U, et al. Nat Commun. 2020 Oct 7;11(1):5038. doi: 10.1038/s41467-020-18752-7. Nat Commun. 2020. PMID: 33028830 Free PMC article.
Epilepsy is one of the most common neurological disorders, yet its pathophysiology is poorly understood due to the high complexity of affected neuronal circuits. To identify dysfunctional neuronal subtypes underlying seizure activity in the human brain, we ha …
Epilepsy is one of the most common neurological disorders, yet its pathophysiology is poorly understood due to the high complexity of affect …
Automated immunohistochemical method to analyze large areas of the human cortex.
Abbass M, Trought K, Long D, Semechko A, Wong AHC. Abbass M, et al. J Neurosci Methods. 2018 Jan 15;294:81-90. doi: 10.1016/j.jneumeth.2017.10.024. Epub 2017 Nov 7. J Neurosci Methods. 2018. PMID: 29126813
Discrepancies in previously published reports may arise from small sample sizes, inconsistent methodology and biased cell counting. METHODS: We applied automated quantification of neuron density, neuron size and cortical layer thickness in large regions of th …
Discrepancies in previously published reports may arise from small sample sizes, inconsistent methodology and biased cell counting. M …
Single nucleus multiome analysis of the prefrontal cortex from C9orf72 ALS/FTD patients illuminates pathways affected during disease progression.
Wang HV, Veire AM, Gendron TF, Gearing M, Glass JD, Jin P, Corces VG, McEachin ZT. Wang HV, et al. bioRxiv [Preprint]. 2023 Jan 13:2023.01.12.523820. doi: 10.1101/2023.01.12.523820. bioRxiv. 2023. PMID: 36711601 Free PMC article. Preprint.
To identify molecular defects that take place in the dorsolateral frontal cortex of patients with C9orf72 ALS/FTD, we compared healthy controls with C9orf72 ALS/FTD donor samples staged based on the levels of cortical phosphorylated TAR DNA binding protein (pTDP-43), a neu …
To identify molecular defects that take place in the dorsolateral frontal cortex of patients with C9orf72 ALS/FTD, we compared healthy contr …
Altered layer-specific gene expression in cortical samples from patients with temporal lobe epilepsy.
Rossini L, Moroni RF, Tassi L, Watakabe A, Yamamori T, Spreafico R, Garbelli R. Rossini L, et al. Epilepsia. 2011 Oct;52(10):1928-37. doi: 10.1111/j.1528-1167.2011.03246.x. Epub 2011 Aug 29. Epilepsia. 2011. PMID: 21883179 Free article.
The pathologic samples included typical architectural dysplasia (group 1); temporal lobe sclerosis, a variant of architectural dysplasia (group 2); and white matter heterotopic neuronal aggregates, namely small lentiform nodules (group 3). ...The expression of ER81 …
The pathologic samples included typical architectural dysplasia (group 1); temporal lobe sclerosis, a variant of architectural dyspla …
CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder.
Jacobsen NJ, Elvidge G, Franks EK, O'Donovan MC, Craddock N, Owen MJ. Jacobsen NJ, et al. Am J Med Genet. 2001 Apr 8;105(3):295-300. doi: 10.1002/ajmg.1325. Am J Med Genet. 2001. PMID: 11353453
The gene for Darier disease was mapped to chromosome 12q23-q24.1 and linkage studies have subsequently implicated this region as harboring a susceptibility gene for bipolar affective disorder. We have genomically characterized the human homologue of murine Cux-2, a neur
The gene for Darier disease was mapped to chromosome 12q23-q24.1 and linkage studies have subsequently implicated this region as harboring a …
Comprehensive Transcriptomic Investigation of Rett Syndrome Reveals Increasing Complexity Trends from Induced Pluripotent Stem Cells to Neurons with Implications for Enriched Pathways.
Odabasi YC, Yanasik S, Saglam-Metiner P, Kaymaz Y, Yesil-Celiktas O. Odabasi YC, et al. ACS Omega. 2023 Nov 8;8(46):44148-44162. doi: 10.1021/acsomega.3c06448. eCollection 2023 Nov 21. ACS Omega. 2023. PMID: 38027357 Free PMC article.
While intense research efforts are required to fulfill this unmet need, the fundamental challenge is to obtain sufficient patient data. In this study, we used human transcriptomic data of four different sample types from RTT patients including induced pluripotent st …
While intense research efforts are required to fulfill this unmet need, the fundamental challenge is to obtain sufficient patient data. In t …