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284 results

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Quoted phrase not found in phrase index: "Abnormality of the somatic nervous system"
Page 1
Traumatic brain injury: neuropathological, neurocognitive and neurobehavioral sequelae.
Pavlovic D, Pekic S, Stojanovic M, Popovic V. Pavlovic D, et al. Pituitary. 2019 Jun;22(3):270-282. doi: 10.1007/s11102-019-00957-9. Pituitary. 2019. PMID: 30929221 Review.
Annual TBI incidence is in magnitude of millions, making it a global health challenge. Categorization of TBI into severe, moderate and mild by scores on the Glasgow coma scale (GCS) is based on clinical grounds and standard brain imaging (CT). ...Only few studies recently …
Annual TBI incidence is in magnitude of millions, making it a global health challenge. Categorization of TBI into severe, moderate and mild …
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D. López-Rivera JA, et al. Brain. 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. Brain. 2023. PMID: 36226386 Free PMC article.
Across the exome, we observe a greater number of somatic single-nucleotide variants in low-grade epilepsy-associated tumours (7.92 5.65 single-nucleotide variants) than in brain tissue from malformations of cortical development (6.11 4 single-nucleotide variants) or …
Across the exome, we observe a greater number of somatic single-nucleotide variants in low-grade epilepsy-associated tumours ( …
Differential responses to lithium in hyperexcitable neurons from patients with bipolar disorder.
Mertens J, Wang QW, Kim Y, Yu DX, Pham S, Yang B, Zheng Y, Diffenderfer KE, Zhang J, Soltani S, Eames T, Schafer ST, Boyer L, Marchetto MC, Nurnberger JI, Calabrese JR, Ødegaard KJ, McCarthy MJ, Zandi PP, Alda M, Nievergelt CM; Pharmacogenomics of Bipolar Disorder Study; Mi S, Brennand KJ, Kelsoe JR, Gage FH, Yao J. Mertens J, et al. Nature. 2015 Nov 5;527(7576):95-9. doi: 10.1038/nature15526. Epub 2015 Oct 28. Nature. 2015. PMID: 26524527 Free PMC article.
Guided by RNA sequencing expression profiling, we have detected mitochondrial abnormalities in young neurons from patients with bipolar disorder by using mitochondrial assays; in addition, using both patch-clamp recording and somatic Ca(2+) imaging, we have obser
Guided by RNA sequencing expression profiling, we have detected mitochondrial abnormalities in young neurons from patients with bipol …
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Barba C, et al. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307217 Free PMC article.
We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of postoperative seizure and cognitive outcome in 47 patients with refractory epilepsy and brain somatic SLC35A2 gene variants. ...Brain MRI was abnormal
We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of postoperative seizur …
Neuropathology and epilepsy surgery.
Hoffmann L, Blümcke I. Hoffmann L, et al. Curr Opin Neurol. 2022 Apr 1;35(2):202-207. doi: 10.1097/WCO.0000000000001030. Curr Opin Neurol. 2022. PMID: 35067500 Review.
We can conclude from this review that etiology-based studies are of foremost interest for (1) the development of prediction models for postsurgical seizure outcome; (2) decipher genetic and molecular alterations to better define disease entities and underlying molecular pa …
We can conclude from this review that etiology-based studies are of foremost interest for (1) the development of prediction models fo …
Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain.
Andriani GA, Vijg J, Montagna C. Andriani GA, et al. Mech Ageing Dev. 2017 Jan;161(Pt A):19-36. doi: 10.1016/j.mad.2016.03.007. Epub 2016 Mar 21. Mech Ageing Dev. 2017. PMID: 27013377 Free PMC article. Review.
Aneuploidy and polyploidy are a form of Genomic Instability (GIN) known as Chromosomal Instability (CIN) characterized by sporadic abnormalities in chromosome copy numbers. Aneuploidy is commonly linked to pathological states. ...We describe the mechanisms accountable for …
Aneuploidy and polyploidy are a form of Genomic Instability (GIN) known as Chromosomal Instability (CIN) characterized by sporadic abnorm
Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations.
Hong T, Xiao X, Ren J, Cui B, Zong Y, Zou J, Kou Z, Jiang N, Meng G, Zeng G, Shan Y, Wu H, Chen Z, Liang J, Xiao X, Tang J, Wei Y, Ye M, Sun L, Li G, Hu P, Hui R, Zhang H, Wang Y. Hong T, et al. Brain. 2021 Oct 22;144(9):2648-2658. doi: 10.1093/brain/awab117. Brain. 2021. PMID: 33729480
Of the 81 patients, 73 (90.1%) patients were detected carrying somatic missense variants in two genes: MAP3K3 and PIK3CA by whole-exome sequencing. ...Enrichment of endothelial cell population was associated with a higher fractional abundance of the somatic mutation …
Of the 81 patients, 73 (90.1%) patients were detected carrying somatic missense variants in two genes: MAP3K3 and PIK3CA by whole-exo …
Recent advances in the study of somatic mosaicism and diseases other than cancer.
Erickson RP. Erickson RP. Curr Opin Genet Dev. 2014 Jun;26:73-8. doi: 10.1016/j.gde.2014.06.001. Epub 2014 Jul 20. Curr Opin Genet Dev. 2014. PMID: 25050467 Review.
Somatic mosaicism is well appreciated as a cause of cancer and, possibly, aging. ...There have been exciting recent advances in the detection of somatic mosaicism. In particular, for many diseases of somatic overgrowth in which somatic mosaicism as the
Somatic mosaicism is well appreciated as a cause of cancer and, possibly, aging. ...There have been exciting recent advances in the d
The contribution of clinical neurophysiology to the comprehension of the tension-type headache mechanisms.
Rossi P, Vollono C, Valeriani M, Sandrini G. Rossi P, et al. Clin Neurophysiol. 2011 Jun;122(6):1075-85. doi: 10.1016/j.clinph.2010.12.061. Epub 2011 Feb 22. Clin Neurophysiol. 2011. PMID: 21345722 Review.
With regard to the first point, the present results are disappointing, since some abnormalities found in TTH patients may be frequently observed also in migraineurs. ...A similar conclusion has been reached by using the trigeminocervical reflexes, whose abnormali
With regard to the first point, the present results are disappointing, since some abnormalities found in TTH patients may be frequent …
Huntington's disease - neuropathology.
Vonsattel JP, Keller C, Cortes Ramirez EP. Vonsattel JP, et al. Handb Clin Neurol. 2011;100:83-100. doi: 10.1016/B978-0-444-52014-2.00004-5. Handb Clin Neurol. 2011. PMID: 21496571 Review.
The mutated huntingtin is ubiquitous in somatic tissues, yet the pathologic changes are apparently restricted to the brain. The degree of the abnormal expansion of the CAG repeats governs the gradually diffuse atrophy of the brain. ...
The mutated huntingtin is ubiquitous in somatic tissues, yet the pathologic changes are apparently restricted to the brain. The degre …
284 results