Neurociencias
Departamento
Leiden University Medical Center
Leiden, HolandaPublicaciones en colaboración con investigadoras/es de Leiden University Medical Center (25)
2023
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865
2022
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111
2021
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DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan
Molecular Psychiatry, Vol. 26, Núm. 6, pp. 2148-2162
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Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
Nature Communications, Vol. 12, Núm. 1
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
Nature Communications, Vol. 12, Núm. 1
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Implementing Precision Psychiatry: A Systematic Review of Individualized Prediction Models for Clinical Practice
Schizophrenia Bulletin, Vol. 47, Núm. 2, pp. 284-297
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Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease
Annals of Neurology, Vol. 90, Núm. 1, pp. 35-42
2020
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Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)
Acta Neuropathologica
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Psychophysiological responses to sadness in girls and boys with conduct disorder.
Journal of Abnormal Psychology
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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
Nature Communications, Vol. 11, Núm. 1
2019
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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
Acta Neuropathologica, Vol. 138, Núm. 2, pp. 237-250
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Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders, Vol. 61, pp. 101-105
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Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
npj Parkinson's Disease, Vol. 5, Núm. 1
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Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
npj Parkinson's Disease, Vol. 5, Núm. 1
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SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease
Movement Disorders, Vol. 34, Núm. 9, pp. 1333-1344
2016
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Double SMCHD1 variants in FSHD2: The synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 78-85
2015
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Exploring genetic factors involved in huntington disease age of onset: E2F2 as a new potential modifier gene
PLoS ONE, Vol. 10, Núm. 7
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Large-scale recent expansion of European patrilineages shown by population resequencing
Nature Communications, Vol. 6