Lista de obras - Pilar Gómez-Garre - Dominio Público Uruguay

A PTG variant contributes to a milder phenotype in Lafora disease

artículo científico publicado en 2011

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)

artículo científico publicado en 1999

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

GDNF gene is associated with tourette syndrome in a family study

artículo científico publicado en 2015

Genetic analysis of CHCHD2 in a southern Spanish population

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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.

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

Low serum uric acid levels in progressive supranuclear palsy.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2013

PSMC1Gene in Parkinson s Disease

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

The effect of BDNF val66met polymorphism on visuomotor adaptation.

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Lista de obras de Pilar Gómez-Garre

A PTG variant contributes to a milder phenotype in Lafora disease

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

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

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

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

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

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

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

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

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

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

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

GDNF gene is associated with tourette syndrome in a family study

Genetic analysis of CHCHD2 in a southern Spanish population

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

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

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

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

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

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

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

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

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

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

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

Low serum uric acid levels in progressive supranuclear palsy.

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

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

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

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

New type of mutations in three spanish families with choroideremia.

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

PSMC1Gene in Parkinson s Disease

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

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

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

The effect of BDNF val66met polymorphism on visuomotor adaptation.

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