Search Results - "van den Maagdenberg, A"
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Distinguishing core from penumbra by lipid profiles using Mass Spectrometry Imaging in a transgenic mouse model of ischemic stroke
Published in Scientific reports (31-01-2019)“…Detecting different lipid profiles in early infarct development may give an insight on the fate of compromised tissue. Here we used Mass Spectrometry Imaging…”
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MEA-ToolBox: an Open Source Toolbox for Standardized Analysis of Multi-Electrode Array Data
Published in Neuroinformatics (Totowa, N.J.) (01-10-2022)“…Functional assessment of in vitro neuronal networks—of relevance for disease modelling and drug testing—can be performed using multi-electrode array (MEA)…”
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Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease
Published in Journal of internal medicine (01-03-2019)“…Background Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL‐S) is a small vessel disease caused by C‐terminal…”
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Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation
Published in Journal of neurology, neurosurgery and psychiatry (01-10-2009)“…Objective:To study the clinical spectrum of CACNA1A S218L mutation carriers with special attention to “early seizures and cerebral oedema after trivial head…”
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Shared genetic factors in migraine and depression: Evidence from a genetic isolate
Published in Neurology (26-01-2010)“…To investigate the co-occurrence of migraine and depression and assess whether shared genetic factors may underlie both diseases. Subjects were 2,652…”
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Animal models of migraine: looking at the component parts of a complex disorder
Published in The European journal of neuroscience (01-09-2006)“…Animal models of human disease have been extremely helpful both in advancing the understanding of brain disorders and in developing new therapeutic approaches…”
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Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine
Published in Neurology (04-12-2007)“…Familial (FHM) and sporadic (SHM) hemiplegic migraine are severe subtypes of migraine associated with transient hemiparesis. For FHM, three genes have been…”
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Correction to: Migraine-relevant sex-dependent activation of mouse meningeal afferents by TRPM3 agonists
Published in Journal of headache and pain (28-01-2022)Get full text
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Heterozygous TREX1 mutations in early-onset cerebrovascular disease
Published in Journal of neurology (01-08-2013)Get full text
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Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation
Published in Neurology (28-09-2004)Get full text
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Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation
Published in Annals of neurology (01-02-2006)“…Objective Attacks of familial hemiplegic migraine (FHM) are usually associated with transient, completely reversible symptoms. Here, we studied the ATP1A2 FHM2…”
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A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1
Published in Neuroscience (25-04-2014)“…Highlights • Trigeminal sensory neurons of a genetic migraine mouse model were patch-clamped. • No difference in firing evoked by current pulses vs control was…”
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CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine
Published in Clinical genetics (01-11-2008)“…Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M…”
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Trigeminal ganglion neuron subtype‐specific alterations of CaV2.1 calcium current and excitability in a Cacna1a mouse model of migraine
Published in The Journal of physiology (01-12-2011)“…Non‐technical summary Activation of trigeminal neurons innervating the meninges and release of proinflammatory peptides (in particular calcitonin gene‐related…”
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TREX1 gene variant in neuropsychiatric systemic lupus erythematosus
Published in Annals of the rheumatic diseases (01-10-2010)Get more information
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A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2
Published in Neurogenetics (01-06-2004)“…Familial hemiplegic migraine (FHM), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations…”
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Migraine and genetic and acquired vasculopathies
Published in Cephalalgia (01-09-2009)“…It is remarkable that migraine is a prominent part of the phenotype of several genetic vasculopathies, including cerebral autosomal dominant arteriopathy with…”
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Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1
Published in Neuropediatrics (01-10-2006)“…Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other…”
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A review of the genetic relation between migraine and epilepsy
Published in Cephalalgia (01-02-2008)“…A possible relation between migraine and epilepsy has been a matter of debate for many decades. Clinical, epidemiological and therapeutic similarities may be…”
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Intravital microscopy on a closed cranial window in mice: a model to study trigeminovascular mechanisms involved in migraine
Published in Cephalalgia (01-11-2006)“…The purpose of the study was to develop a mouse model to study trigeminovascular mechanisms using intravital microscopy on a closed cranial window. In…”
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