Leonard van den Berg

Leonard van den Berg

Rudolf Magnus Institute Of Neuroscience And Department Of Neurology, University Medical Centre, 3584 Cx Utrecht, The Netherlands,

Direct Impact

Concepts for which Leonard van den Berg has direct influence:

subcutaneous immunoglobulin
motor neuropathy
hyqvia mmn
period ivig
scig infusion
muscle strength

External impact

Concepts related to the work of other authors for which Leonard van den Berg has influence:

amyotrophic lateral sclerosis
longitudinal biomarkers
atf3 expression
golgi fragmentation
hereditary spastic paraplegia
brain-specific fibroblast growth factor
motor protein

Prominent publications by Leonard van den Berg

KOL-Index: 39 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 ...
Known for
Cko Mice | Small-Molecule Dlk Inhibitor | Drug-Related Saes | C-Jun N-Terminal Kinase Pathway
KOL-Index: 27 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. ...
Known for
Haplotypes Genotype | Imputation Reference
KOL-Index: 19 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 ...
Known for
Kif5a Gene | Comparing | Terminal | Domain
KOL-Index: 13 Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised primarily by motor system degeneration, with clinical evidence of cognitive and behavioural change in up to 50% of cases. ALS is both clinically and biologically heterogeneous. Subgrouping is currently undertaken using clinical parameters, such as site of symptom onset (bulbar or spinal), burden of disease (based on ...
Known for
Network Disruption
KOL-Index: 12 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 ...
Known for
Metal Amyotrophic | Concentrations Associations | Sclerosis Prospective
KOL-Index: 9 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 ...
Known for
Enhancers | Cav2 Overexpression | Mutations Reduce | Expression Variation
KOL-Index: 8 Primary lateral sclerosis (PLS) is a condition that most neurologists will never personally diagnose. For the estimated several thousand people living with PLS globally, while it may not be life-sh...
Known for
Neurologists | Estimated People | Primary Lateral Sclerosis
KOL-Index: 8 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 ...
Known for
10-9 | Coiled | Vrk2 Tcf4
KOL-Index: 5 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 ...
Known for
Expansion C9orf72 | 61 Young-Onset Age | Prion-Like Domains | Identified Rare
KOL-Index: 4 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 ...
Known for
12 | Respiratory Function | Supine Svc | Cafs

Rudolf Magnus Institute of Neuroscience and Department of Neurology, University Medical Centre, 3584 CX Utrecht, the Netherlands,

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