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List of works by Pilar Gómez-Garre

A PTG variant contributes to a milder phenotype in Lafora disease

scientific article

A genetic analysis of a Spanish population with early onset Parkinson's disease

scientific article published on 01 September 2020

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

scientific article

A replication study of GWAS-genetic risk variants associated with Parkinson's disease in a Spanish population

scientific article published on 17 August 2019

Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

scientific article published on 31 October 2013

Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene

scientific article

BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis

scientific article published on 12 June 2014

Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy

scientific article published in October 2003

Common variation in the LRRK2 gene is a risk factor for Parkinson's disease

scientific article

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

article

Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.

scientific article

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease

scientific article

GDNF gene is associated with tourette syndrome in a family study

scientific article published on 12 June 2015

Genetic analysis of CHCHD2 in a southern Spanish population

scientific article published on 21 October 2016

Genetic association of sirtuin genes and Parkinson’s disease ⬇️

scientific article published on May 30, 2013

Genetic factors influencing frontostriatal dysfunction and the development of dementia in Parkinson's disease

scientific article

Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1.

scientific article published in May 2005

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.

scientific article

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

scientific article published on 26 December 2013

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora

scientific article

Integrating genetic and clinical data to predict impulse control disorders in Parkinson's disease

scientific article published on 13 October 2020

Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease

scientific article published on 22 January 2011

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

article

Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.

scientific article published on 25 September 2014

Lafora disease due to EPM2B mutations: a clinical and genetic study.

scientific article

Low serum uric acid concentration in Parkinson's disease in southern Spain

scientific article published on 12 May 2012

Low serum uric acid levels in progressive supranuclear palsy.

scientific article published on 21 December 2015

Lower levels of uric acid and striatal dopamine in non-tremor dominant Parkinson's disease subtype.

scientific article

MRI volumetry and proton MR spectroscopy of the brain in Lafora disease

scientific article published in April 2006

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

scientific article published on 11 November 2020

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

article

New type of mutations in three spanish families with choroideremia.

scientific article

Novel Lrrk2-p.S1761R mutation is not a common cause of Parkinson's disease in Spain.

scientific article

PSMC1 Gene in Parkinson’s Disease

scientific article published in 2012

Prevalence and clinical features of LRRK2 mutations in patients with Parkinson's disease in southern Spain

scientific article

Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain

scientific article published on 8 October 2013

TMEM230 in Parkinson's disease in a southern Spanish population.

scientific article

The effect of BDNF val66met polymorphism on visuomotor adaptation.

scientific article published in September 2012

Variability of age at onset in siblings with familial Alzheimer disease.

scientific article published in December 2007

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