Lista de obras -

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

artículo científico publicado en 2003

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

artículo científico publicado en 2004

Analysis of the glucocerebrosidase gene in Parkinson's disease

article

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

artículo científico publicado en 2015

Association studies between the plasmin genes and late-onset Alzheimer's disease

artículo científico publicado en 2007

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

artículo científico publicado en 2006

Benign hereditary chorea: clinical, genetic, and pathological findings

artículo científico publicado en 2003

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

artículo científico publicado en 2003

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

article

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

artículo científico publicado en 2006

Clinical findings in a large family with a parkin ex3delta40 mutation

artículo científico publicado en 2004

Drug Repositioning for Alzheimer's Disease Based on Systematic 'omics' Data Mining

artículo científico publicado en 2016

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

artículo científico publicado en 2013

Genetic Variability in CHMP2B and Frontotemporal Dementia

article

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

artículo científico publicado en 2012

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.

artículo científico publicado en 2004

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

artículo científico publicado en 2012

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

scholarly article by Cindy Zadikoff et al published 17 March 2006 in Movement Disorders

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

artículo científico publicado en 2014

Investigation of c9orf72 in 4 neurodegenerative disorders

artículo científico publicado en 2012

Mutation analysis of CHCHD10 in different neurodegenerative diseases

artículo científico publicado en 2015

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease

artículo científico publicado en 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

artículo científico publicado en 2014

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

artículo científico publicado en 2016

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

artículo científico publicado en 2006

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

artículo científico publicado en 2015

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease

artículo científico publicado en 2006

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.

artículo científico publicado en 2018

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

artículo científico publicado en 2015

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins

artículo científico publicado en 2008

Lista de obras de

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Analysis of the glucocerebrosidase gene in Parkinson's disease

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

Association studies between the plasmin genes and late-onset Alzheimer's disease

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

Benign hereditary chorea: clinical, genetic, and pathological findings

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

Clinical findings in a large family with a parkin ex3delta40 mutation

Drug Repositioning for Alzheimer's Disease Based on Systematic 'omics' Data Mining

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

Genetic Variability in CHMP2B and Frontotemporal Dementia

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

Investigation of c9orf72 in 4 neurodegenerative disorders

Mutation analysis of CHCHD10 in different neurodegenerative diseases

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins