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  • Föregående 1234[5]6Nästa
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  • Sabre, Liis, et al. (författare)
  • miR-30e-5p as predictor of generalization in ocular myasthenia gravis
  • 2019
  • Ingår i: Annals of clinical and translational neurology. - : WILEY. - 2328-9503. ; 6:2, s. 243-251
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: To determine a predictive factor for the risk of conversion from ocular myasthenia gravis (OMG) to generalized MG (GMG) in a prospective study.Methods: RNA was isolated from serum samples and detection of microRNA (miRNA) expression analyzed with qPCR. In the discovery set, 179 human miRNAs were assayed for profiling of five OMG patients and four age- and gender-matched healthy controls. Based on the specific accumulation pattern of 19 miRNAs from the discovery set, in addition to miRNAs previously found elevated in generalized MG (GMG; miR-150-5p and miR-30e-5p), 21 miRNAs were subsequently analyzed in a validation cohort of 83 OMG patients (82 immunosuppression treatment naive; 49 male) within 3 months of diagnosis and at a follow-up visit (median duration 28 months from first visit).Results: Thirteen patients generalized 14.8 +/- 12.0 months after the diagnosis and the majority (85%) belonged to the late onset MG group. Two miRNAs were significantly higher in secondary GMG (SGMG) patients compared to OMG patients with late onset MG: miR-30e-5p (9.1 +/- 0.5 vs. 6.3 +/- 0.9; P < 0.0001) and miR-150-5p (7.4 +/- 1.1 vs. 6.4 +/- 1.1; P = 0.01). The sensitivity for miR-30e-5p in differentiating OMG and SGMG was 96% in all OMG patients and 100% in late onset OMG patients.Interpretation: This is the first study to describe a potential predictive factor associated with the risk of generalization for patients with OMG. Raised levels (>8) of miR-30e-5p at initial presentation in patients with ocular MG symptoms, give a predictive cut-off for subsequent generalization of 96-100%.
  • Sedghi, M., et al. (författare)
  • Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study
  • 2019
  • Ingår i: Annals of Clinical and Translational Neurology. - : Wiley. - 2328-9503. ; 6:11, s. 2197-2204
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most common genetic causes of mortality in infants. It is characterized by degeneration of anterior horn cells in the spinal cord, leading to progressive muscle weakness and atrophy. Non-SMN1-related spinal muscular atrophies are caused by variants in a number of genes, including VRK1, encoding the vaccinia-related kinase 1 (VRK1). VRK1 variants have been segregated with motor neuron diseases including SMA phenotypes or hereditary complex motor and sensory axonal neuropathy (HMSN), with or without pontocerebellar hypoplasia or microcephaly. Results: Here, we report an association of a novel homozygous splice variant in VRK1 (c.1159 + 1G>A) with childhood-onset SMA or juvenile lower motor disease with brisk tendon reflexes without pontocerebellar hypoplasia and normal intellectual ability in a family with five affected individuals. We show that the VRK1 splice variant in patients causes decreased splicing efficiency and a mRNA frameshift that escapes the nonsense-mediated decay machinery and results in a premature termination codon. Conclusions: Our findings unveil the impact of the variant on the VRK1 transcript and further support the implication of VRK1 in the pathogenesis of lower motor neuron diseases. © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
  • Selnes, Per, et al. (författare)
  • Impaired synaptic function is linked to cognition in Parkinson's disease.
  • 2017
  • Ingår i: Annals of clinical and translational neurology. - : Wiley. - 2328-9503. ; 4:10, s. 700-713
  • Tidskriftsartikel (refereegranskat)abstract
    • Cognitive impairment is frequent in Parkinson's disease, but the underlying mechanisms are insufficiently understood. Because cortical metabolism is reduced in Parkinson's disease and closely associated with cognitive impairment, and CSF amyloid-β species are reduced and correlate with neuropsychological performance in Parkinson's disease, and amyloid-β release to interstitial fluid may be related to synaptic activity; we hypothesize that synapse dysfunction links cortical hypometabolism, reduced CSF amyloid-β, and presynaptic deposits of α-synuclein. We expect a correlation between hypometabolism, CSF amyloid-β, and the synapse related-markers CSF neurogranin and α-synuclein.Thirty patients with mild-to-moderate Parkinson's disease and 26 healthy controls underwent a clinical assessment, lumbar puncture, MRI, 18F-fludeoxyglucose-PET, and a neuropsychological test battery (repeated for the patients after 2 years).All subjects had CSF amyloid-β 1-42 within normal range. In Parkinson's disease, we found strong significant correlations between cortical glucose metabolism, CSF Aβ, α-synuclein, and neurogranin. All PET CSF biomarker-based cortical clusters correlated strongly with cognitive parameters. CSF neurogranin levels were significantly lower in mild-to-moderate Parkinson's disease compared to controls, correlated with amyloid-β and α-synuclein, and with motor stage. There was little change in cognition after 2 years, but the cognitive tests that were significantly different, were also significantly associated with cortical metabolism. No such correlations were found in the control group.CSF Aβ, α-synuclein, and neurogranin concentrations are related to cortical metabolism and cognitive decline. Synaptic dysfunction due to Aβ and α-synuclein dysmetabolism may be central in the evolution of cognitive impairment in Parkinson's disease.
  • Sengupta, Urmi, et al. (författare)
  • Tau oligomers in cerebrospinal fluid in Alzheimer's disease.
  • 2017
  • Ingår i: Annals of clinical and translational neurology. - : Wiley. - 2328-9503. ; 4:4, s. 226-235
  • Tidskriftsartikel (refereegranskat)abstract
    • With an increasing incidence of Alzheimer's disease (AD) and neurodegenerative tauopathies, there is an urgent need to develop reliable biomarkers for the diagnosis and monitoring of the disease, such as the recently discovered toxic tau oligomers. Here, we aimed to demonstrate the presence of tau oligomers in the cerebrospinal fluid (CSF) of patients with cognitive deficits, and to determine whether tau oligomers could serve as a potential biomarker for AD.A multicentric collaborative study involving a double-blinded analysis with a total of 98 subjects with moderate to severe AD (N = 41), mild AD (N = 31), and nondemented control subjects (N = 26), and two pilot studies of 33 total patients with AD (N = 19) and control (N = 14) subjects were performed. We carried out biochemical assays to measure oligomeric tau from CSF of these patients with various degrees of cognitive impairment as well as cognitively normal controls.Using a highly reproducible indirect ELISA method, we found elevated levels of tau oligomers in AD patients compared to age-matched controls. Western blot analysis confirmed the presence of oligomeric forms of tau in CSF. In addition, the ratio of oligomeric to total tau increased in the order: moderate to severe AD, mild AD, and controls.These assays are suitable for the analysis of human CSF samples. These results here suggest that CSF tau oligomer measurements could be optimized and added to the panel of CSF biomarkers for the accurate and early detection of AD.
  • Stevenson, Nathan J., et al. (författare)
  • Interobserver agreement for neonatal seizure detection using multichannel EEG
  • 2015
  • Ingår i: Annals of Clinical and Translational Neurology. - : Wiley-Blackwell. - 2328-9503. ; 2:11, s. 1002-1011
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: To determine the interobserver agreement (IOA) of neonatal seizure detection using the gold standard of conventional, multichannel EEG. Methods: A cohort of full-term neonates at risk of acute encephalopathy was included in this prospective study. The EEG recordings of these neonates were independently reviewed for seizures by three international experts. The IOA was estimated using statistical measures including Fleiss' kappa and percentage agreement assessed over seizure events (event basis) and seizure duration (temporal basis). Results: A total of 4066 h of EEG recordings from 70 neonates were reviewed with an average of 2555 seizures detected. The IOA was high with temporal assessment resulting in a kappa of 0.827 (95% CI: 0.769-0.865; n = 70). The median agreement was 83.0% (interquartile range [IQR]: 76.6-89.5%; n = 33) for seizure and 99.7% (IQR: 98.9-99.8%; n = 70) for non-seizure EEG. Analysis of events showed a median agreement of 83.0% (IQR: 72.9-86.6%; n = 33) for seizures with 0.018 disagreements per hour (IQR: 0.000-0.090 per hour; n = 70). Observers were more likely to disagree when a seizure was less than 30 sec. Overall, 33 neonates were diagnosed with seizures and 28 neonates were not, by all three observers. Of the remaining nine neonates with contradictory EEG detections, seven presented with low total seizure burden. Interpretation: The IOA is high among experts for the detection of neonatal seizures using conventional, multichannel EEG. Agreement is reduced when seizures are rare or have short duration. These findings support EEG-based decision making in the neonatal intensive care unit, inform EEG interpretation guidelines, and provide benchmarks for seizure detection algorithms.
  • Walker, Christopher S, et al. (författare)
  • A second trigeminal CGRP receptor: function and expression of the AMY1 receptor.
  • 2015
  • Ingår i: Annals of Clinical and Translational Neurology. - : Wiley-Blackwell. - 2328-9503. ; 2:6, s. 595-608
  • Tidskriftsartikel (refereegranskat)abstract
    • The trigeminovascular system plays a central role in migraine, a condition in need of new treatments. The neuropeptide, calcitonin gene-related peptide (CGRP), is proposed as causative in migraine and is the subject of intensive drug discovery efforts. This study explores the expression and functionality of two CGRP receptor candidates in the sensory trigeminal system.
  • Wellington, H., et al. (författare)
  • CSF neurogranin or tau distinguish typical and atypical Alzheimer disease
  • 2018
  • Ingår i: Annals of Clinical and Translational Neurology. - : Wiley. - 2328-9503. ; 5:2, s. 162-171
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: To assess whether high levels of cerebrospinal fluid neurogranin are found in atypical as well as typical Alzheimer's disease. Methods: Immunoassays were used to measure cerebrospinal fluid neurogranin in 114 participants including healthy controls (n=27), biomarker-proven amnestic Alzheimer's disease (n=68), and the atypical visual variant of Alzheimer's (n=19) according to international criteria. CSF total-tau, A beta 42, and neurofilament light concentrations were investigated using commercially available assays. All affected individuals had T1-weighted volumetric MR images available for analysis of whole and regional brain volumes. Associations between neurogranin, brain volumes, total-tau, A beta 42, and neurofilament light were assessed. Results: Median cerebrospinal fluid neurogranin concentrations were higher in typical and atypical Alzheimer's compared to controls (P<0.001 and P=0.005). Both neurogranin and total-tau concentrations, but not neurofilament light and A beta 42, were higher in typical Alzheimer's compared to atypical patients (P=0.004 and P=0.03). There were significant differences in the left hippocampus and right and left superior parietal lobules in atypical patients, which were larger (P=0.03) and smaller (P=0.001 and P<0.001), respectively, compared to typical patients. We found no evidence of associations between neurogranin and brain volumes but a strong association with total-tau (P<0.001) and a weaker association with neurofilament light (P=0.005). Interpretation: These results show significant differences in neurogranin and total-tau between typical and atypical patients, which may relate to factors other than disease topography. The differential relationships between neurogranin, total-tau and neurofilament light in the Alzheimer's variants, provide evidence for mechanistically distinct and coupled markers of neurodegeneration.
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  • Resultat 41-50 av 53
  • Föregående 1234[5]6Nästa
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