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Lista de obras de Mónica Díez-Fairen

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

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

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase 1B Gene and Risk for Restless Legs Syndrome.

artículo científico publicado en 2017

Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women

scientific article published on 27 November 2018

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

Clinic-Based Validation of Cerebrospinal Fluid Biomarkers with Florbetapir PET for Diagnosis of Dementia

artículo científico publicado en 2017

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

scientific article published on 18 January 2020

Exome-wide rare variant analysis in familial essential tremor

scientific article published on 24 November 2020

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

artículo científico publicado en 2020

Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.

artículo científico publicado en 2018

Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways

scientific article published on 04 October 2020

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetics of Parkinson's disease: An introspection of its journey towards precision medicine

scientific article published on 25 January 2020

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

artículo científico publicado en 2021

Genome-wide estimates of heritability and genetic correlations in essential tremor

article

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

artículo científico publicado en 2017

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population

artículo científico publicado en 2016

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

artículo científico publicado en 2018

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population

article

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

artículo científico publicado en 2018

Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants.

artículo científico publicado en 2018

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