List of works - Sara Ortega-Cubero

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

scientific article published on 30 March 2016

A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor

scientific article published on 21 July 2016

Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population.

scientific article

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

scientific article published on 27 April 2017

Delta-amino-levulinic acid dehydratase gene and essential tremor

scientific article published on 9 March 2017

Exome-wide rare variant analysis in familial essential tremor

scientific article published on 24 November 2020

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

scientific article

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

scientific article published on 19 February 2015

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015

Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor.

scientific article

Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome.

scientific article

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

scientific article

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

scientific article published on 7 May 2016

No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population

scientific article

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

scientific article published on 10 April 2018

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

scientific article published on 28 September 2015

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

Thr105Ile (rs11558538) polymorphism in the histamine-1-methyl-transferase (HNMT) gene and risk for restless legs syndrome

scientific article published on 11 November 2016

List of works by Sara Ortega-Cubero

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor

Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population.

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

Delta-amino-levulinic acid dehydratase gene and essential tremor

Exome-wide rare variant analysis in familial essential tremor

Frontotemporal dementia and its subtypes: a genome-wide association study

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor.

Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome.

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Thr105Ile (rs11558538) polymorphism in the histamine-1-methyl-transferase (HNMT) gene and risk for restless legs syndrome