Lista de obras - Cornelis Blauwendraat - Dominio Público Uruguay

A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease

artículo científico publicado en 2018

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies

artículo científico publicado en 2016

ARSA variants in α-synucleinopathies

scientific article published on 01 December 2019

Assessment of APOE in atypical parkinsonism syndromes

artículo científico publicado en 2019

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

artículo científico publicado en 2016

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia

artículo científico publicado en 2016

Classification of GBA Variants and Their Effects in Synucleinopathies

scientific article published on 01 October 2019

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus

artículo científico publicado en 2018

Comprehensive assessment of PINK1 variants in Parkinson's disease

artículo científico publicado en 2020

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

artículo científico publicado en 2016

DNAJC proteins and pathways to parkinsonism

artículo científico publicado en 2019

Detection and serotyping of pneumococci in community acquired pneumonia patients without culture using blood and urine samples.

artículo científico publicado en 2015

Differences in the Presentation and Progression of Parkinson's Disease by Sex

artículo científico publicado en 2020

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

artículo científico publicado en 2017

Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

scientific article published on 17 September 2018

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

artículo científico publicado en 2018

Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease

scientific article published on 01 October 2019

Genetic analysis of neurodegenerative diseases in a pathology cohort

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

artículo científico publicado en 2020

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts

artículo científico publicado en 2019

Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease

scientific article published on 29 November 2019

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

artículo científico publicado en 2017

Genome-wide estimates of heritability and genetic correlations in essential tremor

article

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

scientific article published on 10 September 2019

Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study

scientific article published on 20 April 2020

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.

artículo científico publicado en 2017

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

artículo científico publicado en 2017

MIDN locus structural variants and Parkinson's Disease risk

artículo científico publicado en 2020

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

artículo científico publicado en 2018

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

article

Molecular fingerprinting of Mycobacterium abscessus strains in a cohort of pediatric cystic fibrosis patients

artículo científico publicado en 2012

Multi-modality machine learning predicting Parkinson's disease

artículo científico publicado en 2022

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

artículo científico publicado en 2017

No genetic evidence for involvement of alcohol dehydrogenase genes in risk for Parkinson's disease

scientific article published on 14 November 2019

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms

artículo científico publicado en 2019

Parkinson's disease determinants, prediction and gene-environment interactions in the UK Biobank

scientific article published on 01 October 2020

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

artículo científico publicado en 2015

Predicting progression in patients with Parkinson's disease

artículo científico publicado en 2017

Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease

artículo científico publicado en 2016

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

artículo científico publicado en 2017

The Parkinson's Disease Mendelian Randomization Research Portal

scientific article published on 28 October 2019

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

artículo científico publicado en 2016

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

scholarly article by Sara Bandres-Ciga et al published April 2019 in Movement Disorders

The genetic architecture of Parkinson's disease

artículo científico publicado en 2019

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

artículo científico publicado en 2017

Lista de obras de Cornelis Blauwendraat

A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies

ARSA variants in α-synucleinopathies

Assessment of APOE in atypical parkinsonism syndromes

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia

Classification of GBA Variants and Their Effects in Synucleinopathies

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus

Comprehensive assessment of PINK1 variants in Parkinson's disease

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

DNAJC proteins and pathways to parkinsonism

Detection and serotyping of pneumococci in community acquired pneumonia patients without culture using blood and urine samples.

Differences in the Presentation and Progression of Parkinson's Disease by Sex

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease

Genetic analysis of neurodegenerative diseases in a pathology cohort

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts

Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

Genome-wide estimates of heritability and genetic correlations in essential tremor

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

MIDN locus structural variants and Parkinson's Disease risk

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Molecular fingerprinting of Mycobacterium abscessus strains in a cohort of pediatric cystic fibrosis patients

Multi-modality machine learning predicting Parkinson's disease

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

No genetic evidence for involvement of alcohol dehydrogenase genes in risk for Parkinson's disease

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms

Parkinson's disease determinants, prediction and gene-environment interactions in the UK Biobank

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

Predicting progression in patients with Parkinson's disease

Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

The Parkinson's Disease Mendelian Randomization Research Portal

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

The genetic architecture of Parkinson's disease

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects