Leonard van den Berg

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の履歴書 Leonard van den Berg  (不慮の事故, 外側足底神経, physical trauma, injuries, accidental injury, lateral, lateral plantar nerve, nerve, plantar, injury)


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,


Prominent publications by Leonard van den Berg

KOL Index score: 14785

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 ...

で知られている Olesoxime Patients |  Type 2 |  Spinal Muscular |  3 Sma |  Motor Function
KOL Index score: 7066

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 ...

で知られている Common Variants |  Association Schizophrenia |  Genetic Factors |  Genome Wide |  Strong Evidence
KOL Index score: 5041

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 ...

で知られている Mutations Kif5a |  Function Function Mutation |  Genome Wide |  20806 Cases |  59804 Controls
KOL Index score: 4704

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 ...

で知られている Amyotrophic Lateral Sclerosis |  Genetic Variants |  Rna Binding |  Rare Variant |  Targeted Sequencing
KOL Index score: 2770

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, ...

で知られている Amyotrophic Lateral |  Humans Simendan |  Respiratory Failure |  Sclerosis Focus
KOL Index score: 2405

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 ...

で知られている Amyotrophic Lateral |  Blood Metal |  Cadmium Lead |  Lowest Tertile |  Suggested Risk
KOL Index score: 1266

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 ...

で知られている Independent Cohort |  Neuronal Survival |  Amyotrophic Lateral Sclerosis |  Membrane Lipid Rafts |  Noncoding Genome
KOL Index score: 1158

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 ...

で知られている Reference Panel |  European Ancestry |  Allele Frequencies |  Tested Association
KOL Index score: 198

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 ...

で知られている Amyotrophic Lateral Sclerosis


Leonard van den Berg:統計に影響を与えます

その概念のサンプル Leonard van den Berg 世界のトップの専門家の一人です。
Concept World rank
patients olesoxime #31
olesoxime patients #32
preschool cholestenones #42
humans simendan #51
olesoxime #91

のための重要な人々 Amyotrophic Lateral Sclerosis

Adriano Chio’
amyotrophic lateral sclerosis frontotemporal dementia motor neuron disease
Peter Nigel Leigh
amyotrophic lateral sclerosis motor neuron disease angular complex
Orla M Hardiman
amyotrophic lateral sclerosis polio survivors caregiver burden
Pamela Jean Shaw
amyotrophic lateral sclerosis motor neuron disease spinal cord
Benjamin Rix Brooks
amyotrophic lateral sclerosis spinal cord leukemia virus
AlChalabi Al‐Chalabi
amyotrophic lateral sclerosis frontotemporal dementia repeat expansion

Leonard van den Berg:専門家の影響

その概念Leonard van den Berg直接的な影響があります:Amyotrophic lateral sclerosis,  Olesoxime patients,  Patients olesoxime,  Amyotrophic lateral,  Common variants,  Reference panel,  Lateral sclerosis,  Muscle strength.

Leonard van den Berg:KOLインパクト

他の著者の仕事に関連する概念for which Leonard van den Berg 影響力があります:Amyotrophic lateral sclerosis,  Spinal muscular atrophy,  Neurodegenerative diseases,  Bipolar disorder,  Frontotemporal dementia,  Axonal transport,  Motor neurons.



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UMC Utrecht, Utrecht, The Netherlands | Department of Neurology, University Medical Center Utrecht, Utrecht, Netherlands | Department of Neurology, University Medical Centre Utrecht Brain Centre, Utrecht University, Utrecht, The Netherlands | Departm

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