Lista de obras -

-Synuclein and Parkinson disease susceptibility

scientific article published on 13 September 2007

A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression

artículo científico publicado en 2016

A kindred with Parkinson's disease not showing genetic linkage to established loci

scholarly article by K. A. Gwinn-Hardy et al published 25 January 2000 in Neurology

A limited role for DJ1 in Parkinson disease susceptibility

artículo científico publicado en 2004

A multi-incident, Old-Order Amish family with PD.

artículo científico publicado en 2002

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

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

scientific article published in The Lancet

Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease

artículo científico publicado en 2004

Anatomical localization of leucine-rich repeat kinase 2 in mouse brain

artículo científico publicado en 2006

Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels

artículo científico publicado en 2014

Biochemical characterization of torsinB.

artículo científico publicado en 2004

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

artículo científico publicado en 2012

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

artículo científico publicado en 2002

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

artículo científico publicado en 2004

Complex relationship between Parkin mutations and Parkinson disease

artículo científico publicado en 2002

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

artículo científico publicado en 2003

Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases

artículo científico publicado en 2017

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

artículo científico publicado en 2004

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

artículo científico publicado en 2013

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression

artículo científico publicado en 2009

GCH1 expression in human cerebellum from healthy individuals is not gender dependent

scientific article published on 30 June 2009

Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.

artículo científico publicado en 2016

Genetic association of progressive supranuclear palsy (PSP) risk loci variants with brain gene expression and neuropathology endophenotypes

article

Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases

artículo científico publicado en 2016

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

artículo científico publicado en 2005

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

artículo científico publicado en 2007

Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis

artículo científico publicado en 2004

In vivo silencing of alpha-synuclein using naked siRNA

artículo científico publicado en 2008

LRRK2 mutations in Parkinson disease

artículo científico publicado en 2005

LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD).

artículo científico publicado en 2013

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

article

Lack of nigral pathology in transgenic mice expressing human alpha-synuclein driven by the tyrosine hydroxylase promoter

artículo científico publicado en 2001

Late-onset Alzheimer disease risk variants mark brain regulatory loci

artículo científico publicado en 2015

Lewy bodies and parkinsonism in families with parkin mutations

artículo científico publicado en 2001

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

artículo científico publicado en 2004

Linkage exclusion in French families with probable Parkinson's disease

article

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

artículo científico publicado en 1997

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

artículo científico publicado en 1999

Lrrk2 pathogenic substitutions in Parkinson's disease

scientific article published on 17 September 2005

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

artículo científico publicado en 2004

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

artículo científico publicado en 2004

NEXT-GENERATION RNA SEQUENCING IN ALZHEIMER'S DISEASE AND PROGRESSIVE SUPRANUCLEAR PALSY

No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.

scholarly article by S Lincoln et al published 9 January 1999 in Neuroscience Letters

No pathogenic mutations in the persyn gene in Parkinson's disease

article

No pathogenic mutations in the β-synuclein gene in Parkinson's disease

article

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

artículo científico publicado en 2012

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort

artículo científico publicado en 2005

Parkin-proven disease: common founders but divergent phenotypes

artículo científico publicado en 2003

Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations

artículo científico publicado en 2004

Pathology of PD in monozygotic twins with a 20-year discordance interval

artículo científico publicado en 2001

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

artículo científico publicado en 2001

TREM2 is associated with increased risk for Alzheimer's disease in African Americans

artículo científico publicado en 2015

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

artículo científico publicado en 1999

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

artículo científico publicado en 2002

Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study

artículo científico publicado en 2002

UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study

scholarly article by Maurizio Facheris et al published June 2005 in Neuroscience Letters

alpha-Synuclein locus triplication causes Parkinson's disease

artículo científico publicado en 2003

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

artículo científico publicado en 2004

Lista de obras de

-Synuclein and Parkinson disease susceptibility

A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression

A kindred with Parkinson's disease not showing genetic linkage to established loci

A limited role for DJ1 in Parkinson disease susceptibility

A multi-incident, Old-Order Amish family with PD.

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

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease

Anatomical localization of leucine-rich repeat kinase 2 in mouse brain

Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels

Biochemical characterization of torsinB.

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

Complex relationship between Parkin mutations and Parkinson disease

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression

GCH1 expression in human cerebellum from healthy individuals is not gender dependent

Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.

Genetic association of progressive supranuclear palsy (PSP) risk loci variants with brain gene expression and neuropathology endophenotypes

Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis

In vivo silencing of alpha-synuclein using naked siRNA

LRRK2 mutations in Parkinson disease

LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD).

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

Lack of nigral pathology in transgenic mice expressing human alpha-synuclein driven by the tyrosine hydroxylase promoter

Late-onset Alzheimer disease risk variants mark brain regulatory loci

Lewy bodies and parkinsonism in families with parkin mutations

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

Linkage exclusion in French families with probable Parkinson's disease

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

Lrrk2 pathogenic substitutions in Parkinson's disease

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

NEXT-GENERATION RNA SEQUENCING IN ALZHEIMER'S DISEASE AND PROGRESSIVE SUPRANUCLEAR PALSY

No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.

No pathogenic mutations in the persyn gene in Parkinson's disease

No pathogenic mutations in the β-synuclein gene in Parkinson's disease

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort

Parkin-proven disease: common founders but divergent phenotypes

Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations

Pathology of PD in monozygotic twins with a 20-year discordance interval

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

TREM2 is associated with increased risk for Alzheimer's disease in African Americans

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study

UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study

alpha-Synuclein locus triplication causes Parkinson's disease

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.