Leonard van den Berg
UMC Utrecht, Utrecht, The Netherlands | Department of Neurology, University Medical Center Utrecht, Utrecht, Netherlands | Department of Neurology, University Medical Centre ...
KOL Resume for Leonard van den Berg
UMC Utrecht, Utrecht, The Netherlands
Department of Neurology, University Medical Center Utrecht, Utrecht, Netherlands
Department of Neurology, University Medical Center Utrecht, Utrecht, the Netherlands
Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, United Kingdom
Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, Utrecht, the, Netherlands, .
Rudolf Magnus Institute of Neuroscience and Department of Neurology, University Medical Centre, 3584 CX Utrecht, the Netherlands,
Leonard van den Berg: Influence Statistics
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Prominent publications by Leonard van den Berg
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
[ PUBLICATION ]
BACKGROUND: Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available. We investigated the safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 SMA.
METHODS: This randomised, double-blind, placebo-controlled, phase 2 study was done in 22 neuromuscular care centres in Belgium, France, Germany, Italy, Netherlands, Poland, and the UK. Safety and ...
|Known for Olesoxime Patients | Type 2 | Spinal Muscular | 3 Sma | Motor Function|
Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near ...
|Known for Common Variants | Association Schizophrenia | Genetic Factors | Genome Wide | Strong Evidence|
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
[ PUBLICATION ]
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A ...
|Known for Mutations Kif5a | Function Function Mutation | Genome Wide | 20806 Cases | 59804 Controls|
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
[ PUBLICATION ]
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs). We hypothesized that screening genes encoding additional similar proteins will yield novel genetic causes of ALS. The most common genetic variant of ALS patients is a G4C2-repeat expansion within C9ORF72. We have shown that G4C2-repeat RNA sequesters RNA-binding proteins. A logical consequence ...
|Known for Amyotrophic Lateral Sclerosis | Genetic Variants | Rna Binding | Rare Variant | Targeted Sequencing|
Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial
[ PUBLICATION ]
BACKGROUND: There is an urgent unmet need for new therapies in amyotrophic lateral sclerosis. In a clinical study with healthy volunteers, levosimendan, a calcium sensitiser, was shown to improve neuromechanical efficiency and contractile function of the human diaphragm. We aimed to evaluate the safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis, with a focus on respiratory function.
METHODS: The REFALS study is a randomised, double-blind, ...
|Known for Amyotrophic Lateral | Humans Simendan | Respiratory Failure | Sclerosis Focus|
OBJECTIVE: Metals have been suggested as a risk factor for amyotrophic lateral sclerosis (ALS), but only retrospective studies are available to date. We compared metal levels in prospectively collected blood samples from ALS patients and controls, to explore whether metals are associated with ALS mortality.
METHODS: A nested ALS case-control study was conducted within the prospective EPIC (European Prospective Investigation into Cancer and Nutrition) cohort. Cases were identified through ...
|Known for Amyotrophic Lateral | Blood Metal | Cadmium Lead | Lowest Tertile | Suggested Risk|
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease. CAV1 and CAV2 organize membrane lipid rafts (MLRs) important for cell signaling and neuronal survival, and overexpression of CAV1 ameliorates ALS phenotypes in vivo. Genome-wide association studies localize a large proportion of ALS risk variants within the non-coding genome, but further characterization has been limited by lack of appropriate tools. By designing and applying a pipeline to identify pathogenic ...
|Known for Independent Cohort | Neuronal Survival | Amyotrophic Lateral Sclerosis | Membrane Lipid Rafts | Noncoding Genome|
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1%, a large increase in the number of SNPs tested in association studies and can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing ...
|Known for Reference Panel | European Ancestry | Allele Frequencies | Tested Association|
OBJECTIVE: Dual leucine zipper kinase (DLK), which regulates the c-Jun N-terminal kinase pathway involved in axon degeneration and apoptosis following neuronal injury, is a potential therapeutic target in amyotrophic lateral sclerosis (ALS). This first-in-human study investigated safety, tolerability, and pharmacokinetics (PK) of oral GDC-0134, a small-molecule DLK inhibitor. Plasma neurofilament light chain (NFL) levels were explored in GDC-0134-treated ALS patients and DLK conditional ...
|Known for Amyotrophic Lateral Sclerosis|
Key People For Amyotrophic Lateral Sclerosis
Leonard van den Berg:Expert Impact
Concepts for whichLeonard van den Berghas direct influence:Amyotrophic lateral sclerosis, Olesoxime patients, Patients olesoxime, Amyotrophic lateral, Common variants, Reference panel, Lateral sclerosis, Muscle strength.
Leonard van den Berg:KOL impact
Concepts related to the work of other authors for whichfor which Leonard van den Berg has influence:Amyotrophic lateral sclerosis, Spinal muscular atrophy, Neurodegenerative diseases, Bipolar disorder, Frontotemporal dementia, Axonal transport, Motor neurons.
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