Lista de obras - Kristoffer Haugarvoll - Dominio Público Uruguay

-Synuclein and Parkinson disease susceptibility

scientific article published on 13 September 2007

A Novel Compound Heterozygous Tyrosine Hydroxylase Mutation (p.R441P) with Complex Phenotype ⬇️

artículo científico publicado el 1 de enero de 2011

Autonomic symptoms and dopaminergic treatment in de novo Parkinson's disease

artículo científico publicado en 2012

Clinical features of LRRK2 parkinsonism

artículo científico publicado en 2009

Corticobasal syndrome and primary progressive aphasia as manifestations of lrrk2 gene mutations

scientific article published on 01 July 2008

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

artículo científico publicado en 2016

Differential effect of environmental risk factors on postural instability gait difficulties and tremor dominant Parkinson's disease

artículo científico publicado en 2010

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

scientific journal article

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

artículo científico publicado en 2008

ELAVL4, PARK10, and the Celts

article

En kvinne i 70-årene med langvarige gangvansker

scientific article published on 20 October 2015

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

artículo científico publicado en 2009

Fine-mapping and candidate gene investigation within the PARK10 locus

artículo científico publicado en 2008

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

artículo científico publicado en 2017

Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain

artículo científico publicado en 2021

Genomewide association, Parkinson disease, and PARK10

artículo científico publicado en 2006

Glitazone use associated with reduced risk of Parkinson's disease

artículo científico publicado en 2017

Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred

scholarly article by David Gosal et al published 2007 in Movement Disorders

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

artículo científico publicado en 2015

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

scientific article published on 26 October 2008

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

artículo científico publicado en 2014

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

artículo científico publicado en 2017

LRRK2 and Parkinson’s disease in Norway

scientific article published on 01 January 2007

LRRK2 gene and tremor-dominant parkinsonism

artículo científico publicado en 2006

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

artículo científico publicado en 2007

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

artículo científico publicado en 2007

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

artículo científico publicado en 2008

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

artículo científico publicado en 2013

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

artículo científico publicado en 2016

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

artículo científico publicado en 2013

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

artículo científico publicado en 2017

Nigrostriatal denervation sine parkinsonism

artículo científico publicado en 2016

No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease

artículo científico publicado en 2018

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

artículo científico publicado en 2016

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

artículo científico publicado en 2010

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

artículo científico publicado en 2012

PARK8 LRRK2 parkinsonism

artículo científico publicado en 2006

Parkinson disease: associated disorders in the Norwegian population based incident ParkWest study

artículo científico publicado en 2012

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

scholarly article by Mathias Toft et al published 2007 in Movement Disorders

Phactr2 and Parkinson's disease

artículo científico publicado en 2009

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

artículo científico publicado en 2018

Reported mutations inGIGYF2are not a common cause of Parkinson's disease

scholarly article by Carles Vilariño-Güell et al published 15 March 2009 in Movement Disorders

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

artículo científico publicado en 2013

Simvastatin is associated with decreased risk of Parkinson disease

artículo científico publicado en 2016

The genetics of frontotemporal dementia

artículo científico publicado en 2007

The influence of cerebrovascular risk factors on incident dementia in patients with Parkinson's disease

artículo científico publicado en 2005

The role of APOE alleles in incident Parkinson's disease. The Norwegian ParkWest Study

artículo científico publicado en 2010

Treatment in early Parkinson's disease: the Norwegian ParkWest study.

artículo científico publicado en 2012

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease

artículo científico publicado en 2017

Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway

artículo científico publicado en 2007

Lista de obras de Kristoffer Haugarvoll

-Synuclein and Parkinson disease susceptibility

A Novel Compound Heterozygous Tyrosine Hydroxylase Mutation (p.R441P) with Complex Phenotype ⬇️

Autonomic symptoms and dopaminergic treatment in de novo Parkinson's disease

Clinical features of LRRK2 parkinsonism

Corticobasal syndrome and primary progressive aphasia as manifestations of lrrk2 gene mutations

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

Differential effect of environmental risk factors on postural instability gait difficulties and tremor dominant Parkinson's disease

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

ELAVL4, PARK10, and the Celts

En kvinne i 70-årene med langvarige gangvansker

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

Fine-mapping and candidate gene investigation within the PARK10 locus

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain

Genomewide association, Parkinson disease, and PARK10

Glitazone use associated with reduced risk of Parkinson's disease

Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

LRRK2 and Parkinson’s disease in Norway

LRRK2 gene and tremor-dominant parkinsonism

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

Nigrostriatal denervation sine parkinsonism

No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

PARK8 LRRK2 parkinsonism

Parkinson disease: associated disorders in the Norwegian population based incident ParkWest study

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Phactr2 and Parkinson's disease

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

Reported mutations inGIGYF2are not a common cause of Parkinson's disease

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

Simvastatin is associated with decreased risk of Parkinson disease

The genetics of frontotemporal dementia

The influence of cerebrovascular risk factors on incident dementia in patients with Parkinson's disease

The role of APOE alleles in incident Parkinson's disease. The Norwegian ParkWest Study

Treatment in early Parkinson's disease: the Norwegian ParkWest study.

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease

Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway