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List of works by Rubén Fernández-Santiago

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

scientific article published on 3 December 2017

A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease

scientific article

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

scientific article

Absence of LRRK2 mutations in a cohort of patients with idiopathic REM sleep behavior disorder

scientific article published on 8 January 2016

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

scientific article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

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

Discovering the 3' UTR-mediated regulation of alpha-synuclein

scientific article published on 15 November 2017

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

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

scientific article

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

scientific article published on 20 March 2014

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

scientific article

MAPT association with REM sleep behavior disorder

scientific article published on 13 January 2017

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

scientific article published on 10 July 2018

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

scientific article published on 15 April 2008

MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways

scientific article published on 20 July 2020

MicroRNA alterations in iPSC-derived dopaminergic neurons from Parkinson disease patients

scholarly article by Eduard Tolosa et al published September 2018 in Neurobiology of Aging

MicroRNA association with synucleinopathy conversion in rapid eye movement behavior disorder

scientific article published on 13 March 2015

No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort

scientific article published on 22 May 2009

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

scientific article published on 7 August 2014

Possible gender-dependent association of vascular endothelial growth factor (VEGF) gene and ALS.

scientific article published in June 2006

Reply

scientific article published on 12 December 2015

Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers

scientific article published on 15 July 2015

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

scientific article published on 13 March 2015

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

scientific article published on 10 February 2018

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

scientific article

Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations

scientific article published on 7 February 2018

Transcriptome analysis in LRRK2 and idiopathic Parkinson's disease at different glucose levels

scientific article published on 01 December 2021

Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers.

scientific article published on 10 February 2016

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

scientific article published on 23 July 2019

α-synuclein (SNCA) but not dynamin 3 (DNM3) influences age at onset of leucine-rich repeat kinase 2 (LRRK2) Parkinson's disease in Spain

scientific article published on 23 February 2018

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