Lista de obras - Jordi Pérez-Tur - Dominio Público Uruguay

A full genome scan for late onset Alzheimer's disease.

artículo científico publicado en 1999

A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

artículo científico publicado en 1996

A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease

artículo científico publicado en 2003

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

artículo científico publicado en 1997

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

artículo científico publicado en 2005

A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease.

artículo científico publicado en 1999

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

artículo científico publicado en 1998

ABCA1 polymorphisms and Alzheimer's disease.

artículo científico publicado en 2007

Alzheimer disease PS-1 exon 9 deletion defined.

artículo científico publicado en 1999

Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis

artículo científico publicado en 2000

Analysis of the APOE alleles impact in Down's syndrome

artículo científico publicado en 1996

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

artículo científico publicado en 2015

ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain

artículo científico publicado en 2002

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

article

Apolipoprotein E in Guamanian amyotrophic lateral sclerosis/ parkinsonism-dementia complex: genotype analysis and relationships to neuropathological changes

article

Assessing the role of TUBA4A gene in frontotemporal degeneration.

artículo científico publicado en 2015

Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

artículo científico publicado en 2013

Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations.

artículo científico publicado en 2006

Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease.

artículo científico publicado en 1997

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

artículo científico publicado en 2003

Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family

artículo científico publicado en 2012

Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over.

artículo científico publicado en 2000

Chondroitinases release acetylcholinesterase from chick skeletal muscle

artículo científico publicado en 1991

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

artículo científico publicado en 2015

Cloning and characterization of the presenilin-2 gene promoter

artículo científico publicado en 1998

Distortion of allelic expression of apolipoprotein E in Alzheimer's disease.

artículo científico publicado en 1997

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

artículo científico publicado en 1997

Editorial: Proteomic alterations by mutations involved in Parkinson's disease and related disorders

artículo científico publicado en 2017

Epigenetic Study in Parkinson's Disease: A Pilot Analysis of DNA Methylation in Candidate Genes in Brain

article

Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.

artículo científico publicado en 1995

Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism

scientific article published on 01 March 1998

Expression of the LGI1 gene product in astrocytic gliomas: downregulation with malignant progression

artículo científico publicado en 2003

Familial Parkinson's disease: clinical and genetic analysis of four Basque families

artículo científico publicado en 2005

Functional characterization of three single-nucleotide polymorphisms present in the human APOE promoter sequence: Differential effects in neuronal cells and on DNA-protein interactions

artículo científico publicado en 2010

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

article

Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity

artículo científico publicado en 2017

Genetic association of alpha2-macroglobulin with Alzheimer's disease in a Finnish elderly population

artículo científico publicado en 1999

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

artículo científico publicado en 2005

Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's disease

artículo científico publicado en 2006

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

artículo científico publicado en 2008

Genetic studies on chromosome 12 in late-onset Alzheimer disease.

artículo científico publicado en 1998

Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease.

artículo científico publicado en 1999

Homocysteine and cognitive impairment in Parkinson's disease: a biochemical, neuroimaging, and genetic study.

artículo científico publicado en 2009

Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia

artículo científico publicado en 2002

Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.

artículo científico publicado en 1998

Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

scientific journal article

LGI1 is a Nogo receptor 1 ligand that antagonizes myelin-based growth inhibition

artículo científico publicado en 2010

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.

artículo científico publicado en 2011

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

artículo científico publicado en 2006

Low frequency of alpha-synuclein mutations in familial Parkinson's disease

artículo científico publicado en 1998

Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation

scholarly article by B. Luzon-Toro et al published 25 June 2007 in Human Molecular Genetics

Mitochondrial polymporphisms in Parkinson's Disease

artículo científico publicado en 2004

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness

artículo científico publicado en 2008

Mutation in the tau exon 10 splice site region in familial frontotemporal dementia

artículo científico publicado en 1999

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

artículo científico publicado en 2007

New insights into the genetic etiology of Alzheimer's disease and related dementias

artículo científico publicado en 2022

No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease

artículo científico publicado en 2000

No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease.

artículo científico publicado en 1999

Other proteins involved in Parkinson's disease and related disorders

artículo científico publicado en 2016

PM20D1 is a quantitative trait locus associated with Alzheimer’s disease

scientific article published on 07 May 2018

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques

artículo científico publicado en 2006

Parkinson's disease genetics: a complex disease comes to the clinic

artículo científico publicado en 2006

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

artículo científico publicado en 2011

Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease

artículo científico publicado en 1998

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis

artículo científico publicado en 2013

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression

artículo científico publicado en 2014

Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain

artículo científico publicado en 2009

Solubilization of asymmetric acetylcholinesterase by polyanions

artículo científico publicado en 1991

Structural and functional in silico analysis of LRRK2 missense substitutions

artículo científico publicado en 2014

Susceptibility locus for Alzheimer's disease on chromosome 10.

artículo científico publicado en 2000

The Discovery of the Dardarin Gene 15 Years Later: A Globalized Local History

artículo científico publicado en 2020

The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain

artículo científico publicado en 2006

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

artículo científico publicado en 2002

The presenilin 1 C92S mutation increases abeta 42 production.

artículo científico publicado en 2000

Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation

artículo científico publicado en 2010

Two types of asymmetric acetylcholinesterase in chick hindlimb muscle: developmental profiles, in vivo and in cell culture, and recovery after inactivation.

artículo científico publicado en 1991

Lista de obras de Jordi Pérez-Tur

A full genome scan for late onset Alzheimer's disease.

A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease.

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

ABCA1 polymorphisms and Alzheimer's disease.

Alzheimer disease PS-1 exon 9 deletion defined.

Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis

Analysis of the APOE alleles impact in Down's syndrome

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

Apolipoprotein E in Guamanian amyotrophic lateral sclerosis/ parkinsonism-dementia complex: genotype analysis and relationships to neuropathological changes

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations.

Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease.

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family

Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over.

Chondroitinases release acetylcholinesterase from chick skeletal muscle

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

Cloning and characterization of the presenilin-2 gene promoter

Distortion of allelic expression of apolipoprotein E in Alzheimer's disease.

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

Editorial: Proteomic alterations by mutations involved in Parkinson's disease and related disorders

Epigenetic Study in Parkinson's Disease: A Pilot Analysis of DNA Methylation in Candidate Genes in Brain

Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.

Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism

Expression of the LGI1 gene product in astrocytic gliomas: downregulation with malignant progression

Familial Parkinson's disease: clinical and genetic analysis of four Basque families

Functional characterization of three single-nucleotide polymorphisms present in the human APOE promoter sequence: Differential effects in neuronal cells and on DNA-protein interactions

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity

Genetic association of alpha2-macroglobulin with Alzheimer's disease in a Finnish elderly population

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

Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's disease

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

Genetic studies on chromosome 12 in late-onset Alzheimer disease.

Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease.

Homocysteine and cognitive impairment in Parkinson's disease: a biochemical, neuroimaging, and genetic study.

Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia

Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.

Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

LGI1 is a Nogo receptor 1 ligand that antagonizes myelin-based growth inhibition

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

Low frequency of alpha-synuclein mutations in familial Parkinson's disease

Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation

Mitochondrial polymporphisms in Parkinson's Disease

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness

Mutation in the tau exon 10 splice site region in familial frontotemporal dementia

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

New insights into the genetic etiology of Alzheimer's disease and related dementias

No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease

No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease.

Other proteins involved in Parkinson's disease and related disorders

PM20D1 is a quantitative trait locus associated with Alzheimer’s disease

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques

Parkinson's disease genetics: a complex disease comes to the clinic

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression

Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain

Solubilization of asymmetric acetylcholinesterase by polyanions

Structural and functional in silico analysis of LRRK2 missense substitutions

Susceptibility locus for Alzheimer's disease on chromosome 10.

The Discovery of the Dardarin Gene 15 Years Later: A Globalized Local History

The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

The presenilin 1 C92S mutation increases abeta 42 production.

Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation

Two types of asymmetric acetylcholinesterase in chick hindlimb muscle: developmental profiles, in vivo and in cell culture, and recovery after inactivation.