rudyvdbrink/CitationDatabase huggingface dataset:
Investigating the microstructural properties of normal-appearing white matter (NAWM) preceding conversion to white matter hyperintensities (WMHs) in stroke survivors.
NeuroImage, 2021

Using advanced diffusion MRI, we aimed to assess the microstructural properties of normal-appearing white matter (NAWM) preceding conversion to white matter hyperintensities (WMHs) using 3-tissue diffusion signal compositions in ischemic stroke. Data were obtained from the Cognition and Neocortical Volume After Stroke (CANVAS) study. Diffusion-weighted MR and high-resolution structural brain images were acquired 3- (baseline) and 12-months (follow-up) post-stroke. WMHs were automatically segmented and longitudinal assessment at 12-months was used to retrospectively delineate NAWM voxels at baseline converting to WMHs. NAWM voxels converting to WMHs were further dichotomized into either: "growing" WMHs if NAWM adhered to existing WMH voxels, or "isolated de-novo" WMHs if NAWM was unconnected to WMH voxels identified at baseline. Microstructural properties were assessed using 3-tissue diffusion signal compositions consisting of white matter-like (WM-like: T
The role of knowledge in internet-based cognitive behavioural therapy for adolescent depression: Results from a randomised controlled study.
Internet interventions, 2019

Clients' knowledge about their condition and treatment is considered crucial for general health improvement, and knowledge acquisition is an essential part in internet-based cognitive behavioural therapy (ICBT). Yet, little is known about the role of knowledge and how it influences treatment outcome. This study aimed to examine if explicit knowledge increased following ICBT for adolescent depression, if knowledge gain would be associated with symptom reduction, and if pre-existing knowledge predicted changes in depressive symptoms.
Development and validation of the self-reported disability status scale (SRDSS) to estimate EDSS-categories.
Multiple sclerosis and related disorders, 2020

Clinician-assessed Expanded Disease Status Scale (EDSS) is gold standard in clinical investigations but normally unavailable in population-based, patient-centred MS-studies. Our objective was to develop a self-reported gait measure reflecting EDSS-categories.
Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function.
Autism research : official journal of the International Society for Autism Research, 2017

Mutations/deletions in the SHANK3 gene are associated with autism spectrum disorders and intellectual disability. Here, we present electrophysiological and behavioral consequences in novel heterozygous and homozygous mice with a transcriptional stop cassette inserted upstream of the PDZ domain-coding exons in Shank3 (Shank3
Identification of suitable mRNAs and microRNAs as reference genes for expression analyses in skin cells under sex hormone exposure.
Gene, 2021

Quantitative RT-PCR is the most accurate technique for the study of gene expression profiles, however, to ensure the accuracy of qPCR results, suitable reference genes are necessary for data normalization. Hormones influence the development and function of skin cells, regulating the expression of genes and miRNAs. Nevertheless, the stability of reference genes after sex hormone treatment has not been thoroughly investigated. In this study, we evaluated the expression of a set of candidate mRNAs and microRNsA (miRNA) as reference genes in keratinocytes (HaCaT cells), primary human fibroblasts and a melanoma cell line (LM-36 cells) under testosterone or 17β-estradiol treatment. Two algorithms, namely geNorm, Best-Keeper, and the comparative ΔCt method were used to evaluate the expression stability of the candidate reference genes. The comprehensive ranking showed that TBP and miR-191-5p are the most stable expressed genes across all cultured cells under hormone treatment. Furthermore, we observed that GAPDH, HPRT1 and U6 snRNA expression may be altered by hormone exposure, thus, these genes are not recommended as reference genes. In conclusion, the present study provides, to the best of our knowledge, the first evaluation of expressed mRNA(s) and miRNA(s) as reference genes in three different types of skin cells under the stimulation of sex hormones.
Implementing the Proclamation of Stroke and Potentially Preventable Dementias.
International journal of stroke : official journal of the International Stroke Society, 2018

Brain health plays a central role in wellbeing and in the management of chronic diseases. Stroke and dementia pose the two greatest threats to brain health, but recent developments suggest the possibility that preventing stroke may also prevent some dementias: 1. A large population study showed a 32% decrease in the incidence of stroke and a concomitant 7% reduction in the incidence of dementia; 2. Treatment of atrial fibrillation resulted not only in stroke reduction, but a 48% decrease in dementia; 3. A hypothesis free analyses has shown that the first phase of Alzheimer disease involves vascular dysregulation, opening the door to new therapeutic approaches; 4. Cognitive impairment, often treatable and reversible, accompanies heart and kidney failure. These developments, combined with the knowledge that stroke, dementia and heart disease share the same major treatable risk factors, particularly hypertension, offers an opportunity for their joint prevention. This aspiration is expressed by a Proclamation of the World Stroke Organization on Stroke and Potentially Preventable Dementias and endorsed by the World Heart Federation, the World Hypertension League, Alzheimer Disease International and 18 other international, regional and national organizations as a call for action.
The role of GluA1 in ocular dominance plasticity in the mouse visual cortex.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2013

Ocular dominance plasticity is a widely studied model of experience-dependent cortical plasticity. It has been shown that potentiation of open eye responses resulting from monocular deprivation relies on a homeostatic response to loss of input from the closed eye, but the mechanisms by which this occurs are not fully understood. The role of GluA1 in the homeostatic component of ocular dominance (OD) plasticity has not so far been tested. In this study, we tested the idea that the GluA1 subunit of the AMPA receptor is necessary for open eye potentiation. We found that open eye potentiation did not occur in GluA1 knock-out (GluA1(-/-)) mice but did occur in wild-type littermates when monocular deprivation was imposed during the critical period. We also found that depression of the closed eye response that normally occurs in the monocular as well as binocular zone is delayed, but only in the monocular zone in GluA1(-/-) mice and only in a background strain we have previously shown lacks synaptic scaling (C57BL/6OlaHsd). In adult mice, we found that OD plasticity and facilitation of OD plasticity by prior monocular experience were both present in GluA1(-/-) mice, suggesting that the GluA1-dependent mechanisms only operate during the critical period.
An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia.
Journal of neurology, neurosurgery, and psychiatry, 2015

Adult onset primary torsion dystonia (AOPTD) is a poorly penetrant autosomal dominant disorder; most gene carriers are non-manifesting despite having reached an adequate age for penetrance. It is hypothesised that genetic, epigenetic and environmental factors may exert protective or deleterious effects on penetrance of AOPTD. By examining environmental exposure history in cervical dystonia patients and their similarly aged unaffected siblings we aimed to determine the role of previous environmental exposures in relation to disease penetrance.
NMDA spike/plateau potentials in dendrites of thalamocortical neurons.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014

Dendritic NMDA spike/plateau potentials, first discovered in cortical pyramidal neurons, provide supralinear integration of synaptic inputs on thin and distal dendrites, thereby increasing the impact of these inputs on the soma. The more specific functional role of these potentials has been difficult to clarify, partly due to the complex circuitry of cortical neurons. Thalamocortical (TC) neurons in the dorsal lateral geniculate nucleus participate in simpler circuits. They receive their primary afferent input from retina and send their output to visual cortex. Cortex, in turn, regulates this output through massive feedback to distal dendrites of the TC neurons. The TC neurons can operate in two modes related to behavioral states: burst mode prevailing during sleep, when T-type calcium bursts largely disrupt the transfer of signals from retina to cortex, and tonic mode, which provides reliable transfer of retinal signals to cortex during wakefulness. We studied dendritic potentials in TC neurons with combined two-photon calcium imaging and whole-cell recording of responses to local dendritic glutamate iontophoresis in acute brain slices from mice. We found that NMDA spike/plateaus can be elicited locally at distal dendrites of TC neurons. We suggest that these dendritic potentials have important functions in the cortical regulation of thalamocortical transmission. NMDA spike/plateaus can induce shifts in the functional mode from burst to tonic by blockade of T-type calcium conductances. Moreover, in tonic mode, they can facilitate the transfer of retinal signals to cortex by depolarization of TC neurons.
A dual role for the transcription factor Sp8 in postnatal neurogenesis.
Scientific reports, 2018

Neural stem cells (NSCs) of the postnatal subventricular zone (SVZ) continue producing distinct subtypes of olfactory bulb (OB) interneurons throughout life. Understanding the transcriptional coding of this diversity remains a great challenge of modern neurosciences. Interneurons expressing calretinin (CalR) represent the main interneuron subtype produced in the glomerular cell layer (GL) after birth. Previous studies have suggested that their specification relies on expression of the transcription factor Sp8 by SVZ NSCs. In this study, we performed fate mapping of NSCs that generate CalR+ or non-CalR+ interneurons, in order to assess the pattern of Sp8 expression during postnatal neurogenesis. We highlight a complex pattern of Sp8 expression, which appears to be expressed in all interneurons lineages, before getting gradually restricted to maturing CalR+ interneurons. To decipher the early and late functions of Sp8 in postnatal OB neurogenesis, we combined transient, permanent and conditional genetic approaches to manipulate Sp8 at distinct neurogenic stages. While Sp8 plays an early role in controlling proliferation in all lineages, it is not involved in the early specification of CalR+ periglomerular interneurons, but plays a crucial role in their long term survival. Together, our results highlight a crucial and dual role for Sp8 during postnatal neurogenesis.
Virtual Enactment Effect on Memory in Young and Aged Populations: a Systematic Review.
Journal of clinical medicine, 2019

Spatial cognition is a critical aspect of episodic memory, as it provides the scaffold for events and enables successful retrieval. Virtual enactment (sensorimotor and cognitive interaction) by means of input devices within virtual environments provides an excellent opportunity to enhance encoding and to support memory retrieval with useful traces in the brain compared to passive observation.
EMD: Empirical Mode Decomposition and Hilbert-Huang Spectral Analyses in Python.
Journal of open source software, 2021

The Empirical Mode Decomposition (EMD) package contains Python (>=3.5) functions for analysis of non-linear and non-stationary oscillatory time series. EMD implements a family of sifting algorithms, instantaneous frequency transformations, power spectrum construction and single-cycle feature analysis. These implementations are supported by online documentation containing a range of practical tutorials.
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.
Journal of neural transmission (Vienna, Austria : 1996), 2012

The aim of this study is to examine the role of GCH1 among Indians affected with dopa responsive dystonia (DRD) and early onset Parkinson's disease (EOPD). The patients (n = 76 including 19 DRD and 36 EOPD) and controls (n = 138) were screened for variants in GCH1 by PCR amplification of exons, splice junctions and 1 kb upstream region followed by SSCP and DNA sequencing. Four novel variants (p.Met1Val, p.Val204_205del, IVS3+68A>G, and IVS5-6T>G) were identified in 10 patients but not in the controls. In addition to two nonsynonymous changes, identified in four DRD patients in heterozygous condition, one intronic variant (IVS5-6T>G) could be linked to pathogenesis of the disease since it has the potential of altering the splice site as assessed by in silico analysis. Patients carrying different nonsynonymous variants had remarkable variation in clinical phenotype. Consistent with earlier reports, severity of clinical phenotype and the age of onset varied among family members harboring the same mutation. No mutation was detected in the EOPD patients. Three novel mutations in GCH1 gene have been found and are shown to be associated with variable clinical phenotypes mostly within the spectrum of DRD. The mutations identified represent 15.79% (3/19) of east Indian DRD patient cohort.
Live imaging of the innate immune response in neonates reveals differential TLR2 dependent activation patterns in sterile inflammation and infection.
Brain, behavior, and immunity, 2017

Activation of microglial cells in response to brain injury and/or immune stimuli is associated with a marked induction of Toll-like receptors (TLRs). While in adult brain, the contribution of individual TLRs, including TLR2, in pathophysiological cascades has been well established, their role and spatial and temporal induction patterns in immature brain are far less understood. To examine whether infectious stimuli and sterile inflammatory stimuli trigger distinct TLR2-mediated innate immune responses, we used three models in postnatal day 9 (P9) mice, a model of infection induced by systemic endotoxin injection and two models of sterile inflammation, intra-cortical IL-1β injection and transient middle cerebral artery occlusion (tMCAO). We took advantage of a transgenic mouse model bearing the dual reporter system luciferase/GFP under transcriptional control of a murine TLR2 promoter (TLR2-luc-GFP) to visualize the TLR2 response in the living neonatal brain and then determined neuroinflammation, microglial activation and leukocyte infiltration. We show that in physiological postnatal brain development the in vivo TLR2-luc signal undergoes a marked ∼30-fold decline and temporal-spatial changes during the second and third postnatal weeks. We then show that while endotoxin robustly induces the in vivo TLR2-luc signal in the living brain and increases levels of several inflammatory cytokines and chemokines, the in vivo TLR2-luc signal is reduced after both IL-1β and tMCAO and the inflammatory response is muted. Immunofluorescence revealed that microglial cells are the predominant source of TLR2 production during postnatal brain development and in all three neonatal models studied. Flow cytometry revealed developmental changes in CD11b
All the way from the cortex: a review of auditory corticosubcollicular pathways.
Cerebellum (London, England), 2015

Enrico Mugnaini has devoted part of his long and fruitful neuroscientific career to investigating the structural similarities between the cerebellar cortex and one of the first relay stations of the mammalian auditory pathway: the dorsal cochlear nucleus. The hypothesis of the cerebellar-like nature of the superficial layers of the dorsal cochlear nucleus received definitive support with the discovery and extensive characterization in his laboratory of unipolar brush cells, a neuron type unique to certain regions of the cerebellar cortex and to the granule cell domains of the cochlear nuclei. Paradoxically, a different line of research carried out in his laboratory revealed that, unlike the mammalian cerebellar cortex, the dorsal cochlear nucleus receives direct projections from the cerebral cortex, a fact that constitutes one of the main differences between the cerebellum and the dorsal cochlear nucleus. In an article published in 1995, Mugnaini's group described in detail the novel direct projections from the rat auditory neocortex to various subcollicular auditory centers, including the nucleus sagulum, the paralemniscal regions, the superior olivary complex, and the cochlear nuclei (Feliciano et al., Auditory Neuroscience 1995; 1:287-308). This review gives Enrico Mugnaini credit for his seminal contribution to the knowledge of auditory corticosubcollicular projections and summarizes how this growing field has evolved in the last 20 years.
GNE myopathy in Chinese population: hotspot and novel mutations.
Journal of human genetics, 2019

GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles of 46 GNE patients. The clinical and mutational profile of 54 previously reported Chinese patients were also reviewed. A total of 21 novel mutations, including a gross deletion spanning exon 1-2 and a retrotransposon insertion were found in our cohort, enlarging the spectrum of GNE mutations. The most frequent mutation in Chinese population was D207V, which accounts for 25.5% of total alleles (51/200). The age of onset was much later in the patients carrying D207V compared to other patients, indicated the less deleterious effect of D207V on enzyme activity. GNE myopathy may be overlooked in China with a relatively milder phenotype due to the common mutation D207V.
Novel CB1-ligands maintain homeostasis of the endocannabinoid system in ω3- and ω6-long-chain-PUFA deficiency.
Journal of lipid research, 2019

Mammalian ω3- and ω6-PUFAs are synthesized from essential fatty acids (EFAs) or supplied by the diet. PUFAs are constitutive elements of membrane architecture and precursors of lipid signaling molecules. EFAs and long-chain (LC)-PUFAs are precursors in the synthesis of endocannabinoid ligands of G
Q&A: using Patch-seq to profile single cells.
BMC biology, 2017

Individual neurons vary widely in terms of their gene expression, morphology, and electrophysiological properties. While many techniques exist to study single-cell variability along one or two of these dimensions, very few techniques can assess all three features for a single cell. We recently developed Patch-seq, which combines whole-cell patch clamp recording with single-cell RNA-sequencing and immunohistochemistry to comprehensively profile the transcriptomic, morphologic, and physiologic features of individual neurons. Patch-seq can be broadly applied to characterize cell types in complex tissues such as the nervous system, and to study the transcriptional signatures underlying the multidimensional phenotypes of single cells.
Functionalized magnetonanoparticles for MRI diagnosis and localization in epilepsy.
Epilepsia, 2008

The development of nonradioactive and targeted magnetonanoparticles (MNP) capable of crossing the blood-brain barrier (BBB) and of concentrating in the epileptogenic tissues of acute and chronic animal models of temporal lobe epilepsy to render these tissues visible on magnetic resonance imaging (MRI).
Oxidative stress promotes ocular neovascularization.
Journal of cellular physiology, 2009

Mice deficient in superoxide dismutase 1 (Sod1(-/-) mice) develop many features seen in patients with age-related macular degeneration (AMD) including choroidal neovascularization (NV). We sought to determine if the absence of SOD1 contributes to the pro-angiogenic environment in the subretinal space or whether it is completely secondary to other changes in Bruch's membrane and the retinal pigmented epithelium (RPE) that precede the development of choroidal NV. In an ischemic retinopathy model or a transgenic model in which the rhodopsin promoter drives expression of vascular endothelial growth factor (VEGF) in photoreceptor there was significantly more NV in Sod1(-/-) compared to Sod1(+/+) mice. The compromised antioxidant defense system in Sod1(-/-) mice contributes to the pro-angiogenic environment, because treatment of Sod1(-/-) mice with a mixture of antioxidants caused a significant reduction in ischemia-induced retinal NV. Wild-type mice treated with the same antioxidants also showed reduced ischemia-induced retinal NV, reduced VEGF-induced subretinal NV, and reduced choroidal NV at Bruch's membrane rupture sites. These data suggest that reactive oxygen species contribute to several types of ocular NV. This could explain why in the Age-Related Eye Disease Trial, antioxidant treatment reduced conversion from non-neovascular to neovascular AMD and severe vision loss, and suggest that potent antioxidants should be considered for other diseases complicated by ocular NV. J. Cell. Physiol. 219: 544-552, 2009. (c) 2009 Wiley-Liss, Inc.
Exploiting mathematical models to illuminate electrophysiological variability between individuals.
The Journal of physiology, 2012

Across individuals within a population, several levels of variability are observed, from the differential expression of ion channels at the molecular level, to the various action potential morphologies observed at the cellular level, to divergent responses to drugs at the organismal level. However, the limited ability of experiments to probe complex interactions between components has hitherto hindered our understanding of the factors that cause a range of behaviours within a population. Variability is a challenging issue that is encountered in all physiological disciplines, but recent work suggests that novel methods for analysing mathematical models can assist in illuminating its causes. In this review, we discuss mathematical modelling studies in cardiac electrophysiology and neuroscience that have enhanced our understanding of variability in a number of key areas. Specifically, we discuss parameter sensitivity analysis techniques that may be applied to generate quantitative predictions based on considering behaviours within a population of models, thereby providing novel insight into variability. Our discussion focuses on four issues that have benefited from the utilization of these methods: (1) the comparison of different electrophysiological models of cardiac myocytes, (2) the determination of the individual contributions of different molecular changes in complex disease phenotypes, (3) the identification of the factors responsible for the variable response to drugs, and (4) the constraining of free parameters in electrophysiological models of heart cells. Together, the studies that we discuss suggest that rigorous analyses of mathematical models can generate quantitative predictions regarding how molecular-level variations contribute to functional differences between experimental samples. These strategies may be applicable not just in cardiac electrophysiology, but in a wide range of disciplines.