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List of works by Mario Ezquerra

5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

scientific article published on November 2008

A novel MAPT mutation (P301T) associated with familial frontotemporal dementia.

scientific article published in August 2007

A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

scientific article

A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.

scientific article published in December 2007

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease

scientific article published in August 2003

Aberrant epigenome in iPSC-derived dopaminergic neurons from Parkinson's disease patients.

scientific article

Accumulation of mitochondrial 7S DNA in idiopathic and LRRK2 associated Parkinson's disease

scientific article published on 17 October 2019

Age at onset in LRRK2-associated PD is modified by SNCA variants.

scientific article

Alpha-antichymotrypsin gene polymorphism and risk for Alzheimer's disease in the Spanish population

scientific article published in January 1998

Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes

scientific article published in December 2001

Association of Body Mass Index and Parkinson Disease

scientific article published on 13 August 2024

Association study of the G258S transferrin gene polymorphism and Parkinson's disease in the Spanish population

scientific article published on 01 August 2005

Brain tau expression and correlation with the H1/H1 tau genotype in frontotemporal lobar degeneration patients.

scientific article published on 30 July 2007

Brain transcriptomic profiling in idiopathic and LRRK2-associated Parkinson's disease.

scientific article published on 24 May 2012

CCAAT/enhancer binding protein δ is a transcriptional repressor of α-synuclein

scientific article published on 17 June 2019

CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study

scientific article published on 13 October 2016

Cerebrospinal tau, phospho-tau, and beta-amyloid and neuropsychological functions in Parkinson's disease

scientific article

Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration

scientific article published on 25 March 2008

Correction to: The Small GTPase RAC1/CED-10 Is Essential in Maintaining Dopaminergic Neuron Function and Survival Against α-Synuclein-Induced Toxicity

article

Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy

scientific article

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease.

scientific article published on 8 March 2012

Epigenetic Research of Neurodegenerative Disorders Using Patient iPSC-Based Models

scientific article

Exhaustion of mitochondrial and autophagic reserve may contribute to the development of LRRK2 G2019S -Parkinson's disease.

scientific article

Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain

scientific article published in November 2002

Further extension of the H1 haplotype associated with progressive supranuclear palsy

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

scientific article

G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies

scientific article published on 23 January 2009

Genome-wide association study of copy number variations in Parkinson's disease

scientific article published on 22 August 2024

High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal β-amyloid in Parkinson disease

scientific article published on 15 October 2010

Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease

scientific article published on 20 March 2014

Identifying the genetic components underlying the pathophysiology of movement disorders ⬇️

scientific article published on June 23, 2011

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation

scientific article published on 28 October 2011

Lack of interaction of SNCA and MAPT genotypes in Parkinson's disease.

scientific article

Late-onset frontotemporal dementia associated with a novel PGRN mutation

scientific article

Low apolipoprotein E epsilon4 allele frequency in the population of Catalonia (Spain) determined by PCR-RFLP and Laser fluorescent sequencer.

scientific article published on October 1997

MTOR Pathway-Based Discovery of Genetic Susceptibility to L-DOPA-Induced Dyskinesia in Parkinson's Disease Patients

scientific article published on 10 July 2018

Microarray expression analysis in idiopathic and LRRK2-associated Parkinson's disease

scientific article

Mitochondrial and autophagic alterations in skin fibroblasts from Parkinson disease patients with Parkin mutations

scientific article published on 01 June 2019

Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy

scientific article

Novel haplotypes in 17q21 are associated with progressive supranuclear palsy

scientific article

Parkin loss of function contributes to RTP801 elevation and neurodegeneration in Parkinson's disease.

scientific article published on 7 August 2014

Parkinson's disease as a systemic pathology

scientific article published on 01 February 2019

Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusions

scientific article published on 01 September 2012

Plasma miR-34a-5p and miR-545-3p as Early Biomarkers of Alzheimer's Disease: Potential and Limitations

scientific article published on 8 September 2016

Primary progressive aphasia as the initial manifestation of corticobasal degeneration and unusual tauopathies.

scientific article

Rapidly progressive diffuse Lewy body disease

scientific article

Reply

scientific article published on 12 December 2015

SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease

scientific article published on 24 June 2019

Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration

scientific article

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study

scientific article published on 24 December 2014

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

scientific article

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

scientific article published on 13 March 2015

Ubiquitin-negative mini-pick-like bodies in the dentate gyrus in p301l tauopathy

scientific article published on 01 December 2003

Whole-genome DNA hyper-methylation in iPSC-derived dopaminergic neurons from Parkinson's disease patients

scientific article published on 23 July 2019

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