Merel O. Mol
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View article: IMPROVED DISEASE FREE SURVIVAL IN JMML. THE DUTCH EXPERIENCE.
IMPROVED DISEASE FREE SURVIVAL IN JMML. THE DUTCH EXPERIENCE. Open
View article: Correction: Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome
Correction: Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome Open
View article: Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making Open
Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR…
View article: Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U
Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U Open
View article: Thrombectomy in high-risk pulmonary embolism – device versus thrombolysis: rationale and design of the TORPEDO-NL investigator-initiated, academically-sponsored, multicenter, open-label randomized controlled trial
Thrombectomy in high-risk pulmonary embolism – device versus thrombolysis: rationale and design of the TORPEDO-NL investigator-initiated, academically-sponsored, multicenter, open-label randomized controlled trial Open
TORPEDO-NL is the first publicly-funded randomized trial to investigate the effect of CDT treatment specifically in high-risk PE patients. The trial is anticipated to play an important role in revising recommendations for high-risk PE trea…
View article: Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome
Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome Open
View article: Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes
Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes Open
View article: Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing Open
Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide assoc…
View article: Allosteric modulation of protein kinase A in individuals affected by <scp>NLPD</scp> ‐ <scp>PKA</scp> , a neurodegenerative disease in which the <scp>PRKAR1B L50R</scp> variant is expressed
Allosteric modulation of protein kinase A in individuals affected by <span>NLPD</span> ‐ <span>PKA</span> , a neurodegenerative disease in which the <span>PRKAR1B L50R</span> variant is expressed Open
Protein kinase A (PKA) is a crucial signaling enzyme in neurons, with its dysregulation being implicated in neurodegenerative diseases. Assembly of the PKA holoenzyme, comprising a dimer of heterodimers of regulatory (R) and catalytic (C) …
View article: <scp><i>UNC13A</i></scp> Polymorphism Influences Survival in Patients with Frontotemporal Dementia
<span><i>UNC13A</i></span> Polymorphism Influences Survival in Patients with Frontotemporal Dementia Open
UNC13A (rs12608932‐CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS. We aim to describe the association for UNC13A and survival in FTD. We included 626 patients…
View article: Thrombectomy in High-Risk Pulmonary Embolism – Device Versus Thrombolysis: Rationale and Design of the Torpedo-Nl Investigator-Initiated, Academically-Sponsored, Multicenter, Open-Label Randomized Controlled Trial
Thrombectomy in High-Risk Pulmonary Embolism – Device Versus Thrombolysis: Rationale and Design of the Torpedo-Nl Investigator-Initiated, Academically-Sponsored, Multicenter, Open-Label Randomized Controlled Trial Open
View article: Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals
Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals Open
Rare coding single nucleotide variants (SNV) and short insertions or deletions (indels) contribute to Alzheimer disease (AD) genetic risk, from pathogenic variants in autosomal dominant genes to risk factors with diverse effects. In contra…
View article: Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing Open
Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide assoc…
View article: A mutation in the <i>PRKAR1B</i> gene drives pathological mechanisms of neurodegeneration across species
A mutation in the <i>PRKAR1B</i> gene drives pathological mechanisms of neurodegeneration across species Open
Protein kinase A (PKA) neuronal function is controlled by the interaction of a regulatory (R) subunit dimer with two catalytic subunits. Recently, the L50R variant in the gene encoding the RIβ subunit was identified in individuals with a n…
View article: Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene Open
View article: Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration
Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration Open
View article: Domain mapping of disease mutations supports genetic testing of specific<i>SORL1</i>variants in familial Alzheimer’s Disease
Domain mapping of disease mutations supports genetic testing of specific<i>SORL1</i>variants in familial Alzheimer’s Disease Open
Background Protein truncating variants (PTVs) in SORL1 are observed almost exclusively in Alzheimer’s Disease (AD) cases, but the effect of rare SORL1 missense variants is unclear. Methods To identify high-priority missense variants (HPVs)…
View article: The reporting of neuropsychiatric symptoms in electronic health records of individuals with Alzheimer’s disease: a natural language processing study
The reporting of neuropsychiatric symptoms in electronic health records of individuals with Alzheimer’s disease: a natural language processing study Open
View article: Proteomics of the dentate gyrus reveals semantic dementia specific molecular pathology
Proteomics of the dentate gyrus reveals semantic dementia specific molecular pathology Open
View article: Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease Open
View article: Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia
Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia Open
View article: Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers Open
View article: Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"
Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease" Open
These are the burden test results (summary statistics) for the publication: "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s Disease", Nature Genetics, 2022. Format: tab-separated-…
View article: Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"
Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease" Open
These are the burden test results (summary statistics) for the publication: "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s Disease", Nature Genetics, 2022. Format: tab-separated-…
View article: Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
View article: Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families
Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families Open
View article: Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers Open
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dem…
View article: Psychiatric symptoms of frontotemporal dementia and subcortical (co-)pathology burden: new insights
Psychiatric symptoms of frontotemporal dementia and subcortical (co-)pathology burden: new insights Open
Three subtypes of distinct pathological proteins accumulate throughout multiple brain regions and shape the heterogeneous clinical presentation of frontotemporal lobar degeneration (FTLD). Besides the main pathological subtypes, co-occurri…
View article: Additional file 14 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 14 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 14 Lists of significant GO enrichment analysis results for proteins differentially expressed in both temporal cortical FTD-MAPT vs NDC and AD vs NDC. GO enrichment analysis was performed for proteins differentially expresse…
View article: Additional file 7 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 7 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 7 Lists of SynGO enrichment analysis results for proteins differentially expressed in frontal cortical FTD-GRN vs NDC and temporal cortical FTD-MAPT vs NDC. SynGO enrichment analysis was performed on proteins differentially…