Lista de obras - Georgia Xiromerisiou - Dominio Público Uruguay

A Prospective Validation of the Updated Movement Disorders Society Research Criteria for Prodromal Parkinson's Disease

scientific article published on 22 June 2020

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

artículo científico publicado en 2009

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

artículo científico publicado en 2012

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases

scientific article published on 07 November 2019

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature

artículo científico publicado en 2017

A novel task-specific dystonia type: Hemifacial spasm in a photographer

artículo científico publicado en 2020

Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene

scientific article published on 02 December 2009

Acute bilateral thalamic infarction as a cause of acute dementia and hypophonia after occlusion of the artery of Percheron

artículo científico publicado en 2009

Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage

artículo científico publicado en 2008

Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage

artículo científico publicado en 2011

Assessment of Parkinson's disease risk loci in Greece

scientific article published on 27 September 2013

Assessment of the reporting quality of double-blind RCTs for ischemic stroke based on the CONSORT statement

scientific article published on 27 May 2020

Association between AKT1 gene and Parkinson's disease: a protective haplotype

artículo científico publicado en 2008

Association between Helicobacter pylori infection and Guillain-Barré Syndrome: A meta-analysis

scientific article published on 02 March 2020

Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset

artículo científico publicado en 2006

Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts

scientific article published on 01 January 2006

Autoantibodies to alpha-synuclein in inherited Parkinson's disease.

artículo científico publicado en 2007

BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups

artículo científico publicado en 2006

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases

artículo científico publicado en 2020

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

artículo científico publicado en 2020

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

artículo científico publicado en 2016

Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease

artículo científico publicado en 2012

Familial case of speech-induced tongue-protrusion dystonia

artículo científico publicado en 2013

Frailty and prodromal Parkinson's disease: Results from the HELIAD study

artículo científico publicado en 2020

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

artículo científico publicado en 2010

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

artículo científico publicado en 2016

Genetic association studies in patients with traumatic brain injury

scientific article published on January 2010

Genetic basis of Parkinson disease

artículo científico publicado en 2010

Genetic variations in the SULF1 gene alter the risk of cervical cancer and precancerous lesions

artículo científico publicado en 2018

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

artículo científico publicado en 2017

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

artículo científico publicado en 2017

Helicobacter pylori on portal hypertension-related hepatic encephalopathy

artículo científico publicado en 2017

Higher probability of prodromal Parkinson disease is related to lower cognitive performance

artículo científico publicado en 2019

How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease

artículo científico publicado en 2005

IL-1RN and IL-1B gene polymorphisms and cerebral hemorrhagic events after traumatic brain injury

artículo científico publicado en 2005

Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease

artículo científico publicado en 2012

Impact of reactive oxygen species generation on Helicobacter pylori-related extragastric diseases: a hypothesis.

artículo científico publicado en 2017

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

artículo científico publicado en 2011

Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS.

artículo científico publicado en 2009

Lack of association of the UCHL-1 gene with Parkinson's disease in a Greek cohort: a haplotype-tagging approach

artículo científico publicado en 2011

Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients

artículo científico publicado en 2005

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

artículo científico publicado en 2015

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

artículo científico publicado en 2014

Large-scale replication and heterogeneity in Parkinson disease genetic loci

artículo científico publicado en 2012

Low RLS prevalence and awareness in central Greece: an epidemiological survey

artículo científico publicado en 2007

Mediterranean diet adherence is related to reduced probability of prodromal Parkinson's disease

scientific article published on 10 October 2018

Motor function and the probability of prodromal Parkinson's disease in older adults

scientific article published on 17 July 2019

Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's disease

artículo científico publicado en 2008

Neurodegeneration and Inflammation-An Interesting Interplay in Parkinson's Disease

artículo científico publicado en 2020

New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis

artículo científico publicado en 2019

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

artículo científico publicado en 2014

Organochlorine pesticide levels in Greek patients with Parkinson's disease

scientific article published on 08 April 2020

Periodic Paralysis and Encephalopathy as Initial Manifestations of Graves' Disease: Case Report and Review of the Literature

artículo científico publicado en 2017

Posterior reversible encephalopathy in a GT1a positive oculopharyngeal variant of Guillain-Barré syndrome: A case-report and review of the literature

artículo científico publicado en 2020

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

scientific article published on 26 April 2020

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

artículo científico publicado en 2013

Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants

artículo científico publicado en 2007

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data

artículo científico publicado en 2020

TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT

artículo científico publicado en 2013

THAP1 mutations and dystonia phenotypes: genotype phenotype correlations

artículo científico publicado en 2012

THAP1 mutations in a Greek primary blepharospasm series

artículo científico publicado en 2012

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

artículo científico publicado en 2006

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

artículo científico publicado en 2012

The clinical and genetic heterogeneity of paroxysmal dyskinesias

artículo científico publicado en 2015

The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations

article

The interplay between environmental and genetic factors in Parkinson's disease susceptibility: the evidence for pesticides.

artículo científico

The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database

artículo científico publicado en 2019

The syndrome of deafness-dystonia: clinical and genetic heterogeneity

artículo científico publicado en 2013

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease

artículo científico publicado en 2011

Lista de obras de Georgia Xiromerisiou

A Prospective Validation of the Updated Movement Disorders Society Research Criteria for Prodromal Parkinson's Disease

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature

A novel task-specific dystonia type: Hemifacial spasm in a photographer

Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene

Acute bilateral thalamic infarction as a cause of acute dementia and hypophonia after occlusion of the artery of Percheron

Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage

Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage

Assessment of Parkinson's disease risk loci in Greece

Assessment of the reporting quality of double-blind RCTs for ischemic stroke based on the CONSORT statement

Association between AKT1 gene and Parkinson's disease: a protective haplotype

Association between Helicobacter pylori infection and Guillain-Barré Syndrome: A meta-analysis

Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset

Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts

Autoantibodies to alpha-synuclein in inherited Parkinson's disease.

BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease

Familial case of speech-induced tongue-protrusion dystonia

Frailty and prodromal Parkinson's disease: Results from the HELIAD study

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Genetic association studies in patients with traumatic brain injury

Genetic basis of Parkinson disease

Genetic variations in the SULF1 gene alter the risk of cervical cancer and precancerous lesions

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Helicobacter pylori on portal hypertension-related hepatic encephalopathy

Higher probability of prodromal Parkinson disease is related to lower cognitive performance

How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease

IL-1RN and IL-1B gene polymorphisms and cerebral hemorrhagic events after traumatic brain injury

Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease

Impact of reactive oxygen species generation on Helicobacter pylori-related extragastric diseases: a hypothesis.

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS.

Lack of association of the UCHL-1 gene with Parkinson's disease in a Greek cohort: a haplotype-tagging approach

Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Large-scale replication and heterogeneity in Parkinson disease genetic loci

Low RLS prevalence and awareness in central Greece: an epidemiological survey

Mediterranean diet adherence is related to reduced probability of prodromal Parkinson's disease

Motor function and the probability of prodromal Parkinson's disease in older adults

Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's disease

Neurodegeneration and Inflammation-An Interesting Interplay in Parkinson's Disease

New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

Organochlorine pesticide levels in Greek patients with Parkinson's disease

Periodic Paralysis and Encephalopathy as Initial Manifestations of Graves' Disease: Case Report and Review of the Literature

Posterior reversible encephalopathy in a GT1a positive oculopharyngeal variant of Guillain-Barré syndrome: A case-report and review of the literature

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data

TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT

THAP1 mutations and dystonia phenotypes: genotype phenotype correlations

THAP1 mutations in a Greek primary blepharospasm series

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

The clinical and genetic heterogeneity of paroxysmal dyskinesias

The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations

The interplay between environmental and genetic factors in Parkinson's disease susceptibility: the evidence for pesticides.

The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database

The syndrome of deafness-dystonia: clinical and genetic heterogeneity

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease