A5070357055- Family and Disability Support Research
- Language Development and Disorders
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Assistive Technology in Communication and Mobility
- Myasthenia Gravis and Thymoma
- Peripheral Neuropathies and Disorders
- Infant Development and Preterm Care
- Cerebral Palsy and Movement Disorders
- Glycogen Storage Diseases and Myoclonus
- Muscle Physiology and Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Carbohydrate Chemistry and Synthesis
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Autism Spectrum Disorder Research
- Antifungal resistance and susceptibility
- Intracerebral and Subarachnoid Hemorrhage Research
- Child and Adolescent Psychosocial and Emotional Development
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Cognitive Functions and Memory
- Gout, Hyperuricemia, Uric Acid
- Biotin and Related Studies
KU Leuven
2017-2025
Allen Institute for Brain Science
2022
Ghent University Hospital
2022
Universitair Ziekenhuis Leuven
2021
Neurology, Inc
2021
Alexion Pharmaceuticals (United States)
2017-2019
AZ Delta
2019
VIB-KU Leuven Center for Brain & Disease Research
2017
Jena University Hospital
2017
To determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) light (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at phase.We measured pNfH NfL concentrations 220 patients with ALS, 316 neurologic disease controls (DC), 50 genuine mimics (DM) to assess accuracy cutoff correlate other clinical parameters.pNfH was most specific motor neuron (specificity 88.2% [confidence interval (CI) 83.0%-92.3%]). had best...
To evaluate the effect of eculizumab on perceived fatigue in patients with anti-acetylcholine receptor antibody-positive, refractory, generalized myasthenia gravis (MG) using Quality Life Neurological Disorders (Neuro-QOL) Fatigue subscale, and to correlations between improvements Neuro-QOL other clinical endpoints.Neuro-QOL Fatigue, MG Activities Daily Living (MG-ADL), Quantitative (QMG), 15-item (MG-QOL15) scales were administered during phase 3, randomized, placebo-controlled REGAIN study...
The premanifest stage in carriers of hexanucleotide repeat expansions the C9orf72 gene (C9RE) is associated with memory impairment. present study examines whether impairment general across domains or disproportionately affects specific stimulus categories such as socioemotional events, and its underlying functional neuroanatomy. This task-based fMRI-study included 21 C9RE (preC9RE) 24 controls. Participants encoded stimuli (emotional neutral) faces houses, followed by a recognition task....
Children with a significant cognitive and motor developmental delay are pre-symbolic communicators. The primary aim of this study was to reveal the variability within communicative functioning group children in terms communication level, reasons communicate behavioural expressions.Twenty-six between 14 58 months were recruited. Communication Matrix Rowland (2011, Disorders Quarterly, 32, 190) used integrate different sources information on children's functioning.These primarily communicated...
Abstract Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD caused mutations in the acid alpha-glucosidase ( GAA ) gene and treated with enzyme replacement therapy (ERT). Methods We studied clinical, brain imaging, genetic features of Belgian cohort late-onset patients N = 52), explored sensitivity different outcome measures, during longitudinal period 7 years...
<h3>Background and Objectives</h3> Limb-girdle muscular dystrophy autosomal recessive type 12 (LGMDR12) is a rare hereditary for which outcome measures are currently lacking. We evaluated quantitative MRI clinical to track disease progression determine tests could be useful in future trials evaluate potential therapies. <h3>Methods</h3> prospectively measured the following all participants at baseline after 1 2 years: 6-minute walk distance (6MWD), 10-meter test (10MWT), Medical Research...
Abstract We studied the feasibility, safety, tolerability and pharmacokinetics of intracerebroventricular delivery recombinant human vascular endothelial growth factor in patients with amyotrophic lateral sclerosis. In this phase I study sclerosis, drug was delivered using an implantable programmable pump connected to a catheter inserted frontal horn cerebral ventricle. A first cohort received open label (0.2, 0.8 2 µg/day), second placebo, or µg/day dug. After 3-month period, all could...
The terminal complement inhibitor eculizumab was shown to improve myasthenia gravis-related symptoms in the 26-week, phase 3, randomized, double-blind, placebo-controlled REGAIN study (NCT01997229). In this 52-week sub-analysis of open-label extension (NCT02301624), eculizumab's efficacy and safety were assessed 11 Japanese 88 Caucasian patients with anti-acetylcholine receptor antibody-positive refractory generalized gravis. For who had received placebo during REGAIN, treatment resulted...
The aim of this study was to develop a coding scheme that enables researchers and practitioners conduct detailed analysis the communicative behavior young children with significant cognitive motor developmental delays. Currently, there is paucity methods do such an analysis. For study, video observations three different scenarios from 38 delays aged between 12 54 months, were used. Findings served as primary means for development scheme, which comprises main categories – context, partner...
Late-onset Pompe disease (LOPD) is a rare, progressive disorder characterized by limb-girdle muscle weakness and/or respiratory insufficiency, caused acid alpha-glucosidase (GAA) gene mutations and treated with enzyme replacement therapy. We studied isometric strength in eight groups bilaterally using Biodex® dynamometer, as well the Medical Research Council sum score (MRC-SS), hand grip strength, 6 min walk distance (6MWD), 10 m test (10MWT) timed up-and-go (TUG) 12 adult, ambulatory, LOPD...
Objective: To assess the added prognostic value of aggregated clinical and electrodiagnostic data, which define a given diagnostic category according to Awaji or revised El Escorial criteria at time diagnosis in patients with amyotrophic lateral sclerosis (ALS). Methods: Clinical signs test results were collected 396 ALS between January 2009 2016. Significant predictors prognosis identified using univariate model, later combined multivariate Cox regression model. Results: Known factors...
Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by two mutations in anoctamin-5 (ANO5). Our aim was to identify genes and pathways that underlie LGMD-R12 explain differences the molecular predisposition susceptibility between three thigh muscles are severely (semimembranosus), moderately (vastus lateralis) or mildly (rectus femoris) affected this disease. We performed transcriptomics on these 16 male patients 15 age-matched controls. results showed dystrophic muscle associated with...
Budesonide has been proven to be an effective treatment for microscopic colitis (MC). However, the two current commercially available preparations are released in ileum. Beclomethasone dipropionate (Clipper®) is a synthetic corticosteroid with topical colonic release.This study aimed explore whether open-label beclomethasone MC.Prospectively collected data of 30 patients from six centres were retrospectively analysed. All had confirmed diagnosis idiopathic MC (lymphocytic and collagenous...
Children with a significant cognitive and motor developmental delay (SDD) are vulnerable for the development of (future) behavioral mental health problems. This paper aims to assess social-emotional functioning these children, both globally in various domains. Semi-structured interviews one or more primary caregiver(s) 45 children were conducted analyzed on 13 domains functioning, according Scale Emotional Development - Revised (SED-R). The SED-R scoring system was slightly adapted current...
Abstract Background Related to the target group of young children with a significant cognitive and motor developmental delay, aims this study were obtain more insight into (the interrelations between) several characteristics these children's expressive communicative behaviour explore associations between child behaviour, partner contextual factors. Methods A coding scheme was specifically developed used code observational data 38 children. Three different communication‐eliciting situations...
Children with a significant cognitive and motor developmental delay (SDD) are vulnerable for the development of (future) behavioral mental health problems. To support children within this target group, knowledge on their social-emotional is necessary. Therefore, in paper, an explorative assessment changes functioning SDD over two-year period was done. Yearly semi-structured interviews one or more primary caregiver(s) 25 were conducted analyzed 13 domains functioning, according to adapted...
The communicative behavior of young children with significant cognitive and motor developmental delays is generally considered to be limited, idiosyncratic non-intentional. At present, changes between within over time regarding their are hard detect. This article describes an exploratory observational study that draws on data from the first point 38 who participating in a longitudinal project trajectories delays. aims this were (a) describe participants’ detail communication-related...