Merel O. Mol

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 41 publications

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Journal: American journal of human genetics

Published: April 20, 2026

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.

Journal: Acta neuropathologica communications

Published: October 24, 2025

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.

Journal: iScience

Published: September 29, 2025

Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology.

Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology.

Journal: Brain : a journal of neurology

Published: July 28, 2025

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.

Journal: Acta neuropathologica

Published: July 02, 2025

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.

Journal: Acta neuropathologica communications

Published: April 14, 2025

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.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

Journal: Nature genetics

Published: February 21, 2025

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Journal: Molecular neurodegeneration

Published: February 20, 2025

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.

Journal: Molecular neurodegeneration

Published: December 10, 2024

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia.

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia.

Journal: Annals of neurology

Published: October 16, 2024

Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the PRKAR1B L50R variant is expressed.

Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the PRKAR1B L50R variant is expressed.

Journal: The FEBS journal

Published: September 03, 2024

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Last Updated: 09/26/2026