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List of works by Estrella Gómez-Tortosa

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

scientific article

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

scientific article

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

scientific article

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

scientific article published on 25 October 2017

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

scientific article published on 27 April 2017

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

scientific article

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

scientific article

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

scientific article published on 01 June 2003

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

scientific article

Quantitative neuropathological changes in presymptomatic Huntington's disease

scientific article published in January 2001

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

scientific article published on 17 February 2018

SLITRK2 , an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

scientific article published in September 2021

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

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

α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease

scientific article published on 31 October 2020

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