Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
…, H Jiang, M Hirano, E Rampersaud, GH Jansen… - Nature, 2011 - nature.com
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron
degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about …
degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about …
Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease
…, M Schuur, S Haik, SJ Collins, GH Jansen… - Brain, 2009 - academic.oup.com
Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and
electroencephalogram and cerebrospinal fluid biomarkers have been reported to support …
electroencephalogram and cerebrospinal fluid biomarkers have been reported to support …
Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt–Jakob disease
…, I Zerr, U Heinemann, HA Kretszchmar, GH Jansen… - Brain, 2006 - academic.oup.com
To validate the provisional findings of a number of smaller studies and explore additional
determinants of characteristic diagnostic investigation results across the entire clinical …
determinants of characteristic diagnostic investigation results across the entire clinical …
Cerebral lactate and N-acetyl-aspartate/choline ratios in asphyxiated full-term neonates demonstrated in vivo using proton magnetic resonance spectroscopy
…, RH Veenhoven, J van der Grond, GH Jansen… - Pediatric …, 1994 - nature.com
ABSTRACT: The purpose of this study was to test the hypothesis that a high lactate signal
and a low N-acetyl-aspartate/choline ratio in neonates with postasphyxial encephalopathy …
and a low N-acetyl-aspartate/choline ratio in neonates with postasphyxial encephalopathy …
Expression of connexin 43 and connexin 32 gap-junction proteins in epilepsy-associated brain tumors and in the perilesional epileptic cortex
E Aronica, JA Gorter, GH Jansen, S Leenstra… - Acta …, 2001 - Springer
The expression of the gap-junction proteins connexin (CX) 43 and 32 was evaluated in
surgical specimens of brain tumors and perilesional cortex from patients with chronic medically …
surgical specimens of brain tumors and perilesional cortex from patients with chronic medically …
Ionotropic and metabotropic glutamate receptor protein expression in glioneuronal tumours from patients with intractable epilepsy
E Aronica, B Yankaya, GH Jansen… - Neuropathology and …, 2001 - Wiley Online Library
Glioneuronal tumours are an increasingly recognized cause of chronic pharmaco‐resistant
epilepsy. In the present study the immunocytochemical expression of various glutamate …
epilepsy. In the present study the immunocytochemical expression of various glutamate …
Expression and cell distribution of group I and group II metabotropic glutamate receptor subtypes in taylor‐type focal cortical dysplasia
E Aronica, JA Gorter, GH Jansen, CWM Van Veelen… - …, 2003 - Wiley Online Library
Purpose: Focal cortical dysplasia (FCD) is known to be a major cause of intractable epilepsy.
The cellular mechanism(s) underlying the epileptogenicity of FCD remain largely unknown. …
The cellular mechanism(s) underlying the epileptogenicity of FCD remain largely unknown. …
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
Background Human prion diseases are rare and usually rapidly fatal neurodegenerative
disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the …
disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the …
Up-regulation of hippocampal metabotropic glutamate receptor 5 in temporal lobe epilepsy patients
RGE Notenboom, DR Hampson, GH Jansen… - Brain, 2006 - academic.oup.com
… for at least 24 h post-mortem and mGluR1α IR for at least 12 h. At 24 h post-mortem overall
… Therefore, in this study we have used autopsy controls with post-mortem delays <17 h. In …
… Therefore, in this study we have used autopsy controls with post-mortem delays <17 h. In …
Temporal lobe epilepsy: the various MR appearances of histologically proven mesial temporal sclerosis.
LC Meiners, AD Van Gils, GH Jansen… - American journal …, 1994 - Am Soc Neuroradiology
PURPOSE To determine the frequency of appearance of various MR signs in mesial temporal
sclerosis, to determine the optimal scanning planes for their visualization, and to propose …
sclerosis, to determine the optimal scanning planes for their visualization, and to propose …