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List of works by Alexandra I Soto-Ortolaza

Analysis of COQ2 gene in multiple system atrophy

scientific article

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

scientific article

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

scientific article published on 18 October 2012

Angiogenin variation and Parkinson disease

scientific article published in May 2012

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

scientific article published on August 2010

Association of the MAPT locus with Parkinson's disease

scientific article

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

scientific article

Evaluation of the role of SNCA variants in survival without neurological disease

scientific article

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus

scientific article published on 19 June 2015

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

scientific article

Genetic variants of α-synuclein are not associated with essential tremor

scientific article published on 24 October 2011

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

scientific article

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

scientific article published on 16 June 2015

Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

scientific article

Human leukocyte antigen variation and Parkinson's disease

scientific article

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

scientific article

Investigating FUS variation in Parkinson's disease

scientific article published on January 2014

Investigating the role of FUS exonic variants in essential tremor

scientific article published on 16 April 2013

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

scientific article

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

scientific article

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

LRRK2 variation and dementia with Lewy bodies

scientific article published on 29 July 2016

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies

scientific article published on 7 June 2016

MAPT haplotype diversity in multiple system atrophy

scientific article published on 16 June 2016

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

scientific article

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

scientific article published on 29 September 2010

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 25 December 2011

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

scientific article published on 17 August 2013

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies

scientific article published on 24 March 2016

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

scientific article

SLC1A2 rs3794087 does not associate with essential tremor

scientific article

TARDBP mutations in Parkinson's disease

scientific article

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

scientific article published on 14 July 2016

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

VPS35 Mutations in Parkinson Disease

scholarly article by Carles Vilariño-Güell et al published August 2011 in American Journal of Human Genetics

VPS35 and DNAJC13 disease-causing variants in essential tremor

scientific article published on 13 August 2014

VPS35 mutations in Parkinson disease

scientific article

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