Lista de obras - Coro Paisán-Ruíz - Dominio Público Uruguay

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

artículo científico publicado en 2017

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

artículo científico publicado en 2010

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

artículo científico publicado en 2009

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

artículo científico publicado en 2005

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

artículo científico publicado en 2008

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

artículo científico publicado en 2004

Common pathogenic pathways in melanoma and Parkinson disease

artículo científico publicado en 2010

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

artículo científico publicado en 2009

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

scientific article published on 21 December 2007

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation

artículo científico publicado en 2007

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

artículo científico publicado en 2008

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

artículo científico publicado en 2010

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

artículo científico publicado en 2010

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

artículo científico publicado en 2010

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

artículo científico publicado en 2014

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

artículo científico publicado en 2011

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment

artículo científico publicado en 2015

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

artículo científico publicado en 2009

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

artículo científico publicado en 2017

Genetic variability at the PARK16 locus

artículo científico publicado en 2010

Genome-wide association study reveals genetic risk underlying Parkinson's disease

artículo científico publicado en 2009

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

artículo científico publicado en 2012

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

artículo científico publicado en 2009

Identification of a novel monogenic autoinflammatory disease due to mutation in a mitochondrial chaperone protein in a single kindred, and cure with allogeneic haematopoietic stem cell transplantation

artículo científico publicado en 2014

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

artículo científico publicado en 2012

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

article

LRRK2 gene variation and its contribution to Parkinson disease

artículo científico publicado en 2009

LRRK2: Cause, Risk, and Mechanism ⬇️

artículo científico publicado el 1 de enero de 2013

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

artículo científico publicado en 2009

Molecular characterization of PRKN structural variations identified through whole-genome sequencing

artículo científico publicado en 2018

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

artículo científico publicado en 2010

POLG1 polyglutamine tract variants associated with Parkinson's disease

artículo científico publicado en 2010

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

artículo científico publicado en 2009

Parkinson's disease and low frequency alleles found together throughout LRRK2.

artículo científico publicado en 2009

Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia

artículo científico publicado en 2012

Rapid disease progression in adult‐onset mitochondrial membrane protein‐associated neurodegeneration ⬇️

artículo científico publicado el 21 de enero de 2013

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

artículo científico publicado en 2015

SNCA variants are associated with increased risk for multiple system atrophy

artículo científico publicado en 2009

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

artículo científico publicado en 2008

Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia

artículo científico publicado en 2017

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

artículo científico publicado en 2006

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: Clinical and demographic characteristics ⬇️

artículo científico publicado el 20 de enero de 2013

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

artículo científico publicado en 2013

The Use of Next-Generation Sequencing in Movement Disorders ⬇️

artículo científico publicado el 14 de mayo de 2012

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

artículo científico publicado en 2005

The genetics of Parkinson's syndromes: a critical review

artículo científico publicado en 2009

Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11

artículo científico publicado en 2011

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

artículo científico publicado en 2008

Whole genome analysis in a consanguineous family with early onset Alzheimer's disease

artículo científico publicado en 2008

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

artículo científico publicado en 2017

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

artículo científico publicado en 2017

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

artículo científico publicado en 2010

Lista de obras de Coro Paisán-Ruíz

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

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

Common pathogenic pathways in melanoma and Parkinson disease

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

Genetic variability at the PARK16 locus

Genome-wide association study reveals genetic risk underlying Parkinson's disease

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

Identification of a novel monogenic autoinflammatory disease due to mutation in a mitochondrial chaperone protein in a single kindred, and cure with allogeneic haematopoietic stem cell transplantation

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

LRRK2 gene variation and its contribution to Parkinson disease

LRRK2: Cause, Risk, and Mechanism ⬇️

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

Molecular characterization of PRKN structural variations identified through whole-genome sequencing

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

POLG1 polyglutamine tract variants associated with Parkinson's disease

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

Parkinson's disease and low frequency alleles found together throughout LRRK2.

Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia

Rapid disease progression in adult‐onset mitochondrial membrane protein‐associated neurodegeneration ⬇️

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

SNCA variants are associated with increased risk for multiple system atrophy

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: Clinical and demographic characteristics ⬇️

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

The Use of Next-Generation Sequencing in Movement Disorders ⬇️

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

The genetics of Parkinson's syndromes: a critical review

Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

Whole genome analysis in a consanguineous family with early onset Alzheimer's disease

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations