Πλοήγηση ανά Θέμα "onset age"
Αποτελέσματα 1-20 από 32
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Alpha-synuclein repeat variants and survival in parkinson's disease
(2014)Objectives: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease ... -
Anti-hsp60 antibody responses based on Helicobacter pylori in patients with multiple sclerosis: (ir)Relevance to disease pathogenesis
(2016)In view of published data suggesting that Helicobacter pylori (Hp) is a trigger of multiple sclerosis (MS), we assessed anti-heat shock protein 60 (hsp60)Hp antibody reactivity in 129 MS patients and 48 demograpically-matched ... -
Association of maternal Toll-like receptor-4 alleles with susceptibility to early-onset preeclampsia in central Greece
(2019)Introduction: Altered maternal inflammatory responses may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form and intrauterine growth restriction. We ... -
Association of α-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset
(2006)The α-synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80-5.87). ... -
CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases
(2022)Background: Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation ... -
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases
(2020)Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ... -
Clinical phenotype in patients with α-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease
(2001)Objective - An Ala53Thr mutation of the α-synuclein gene has been recently identified as a rare cause of autosomal Parkinson's disease (PD). The clinical characteristics of 15 patients with PD living in Greece with the ... -
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
(2021)Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ... -
CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm
(2020)Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The ... -
CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis
(2021)Background: Genetic variability is considered to confer susceptibility to amyotrophic lateral sclerosis (ALS). Oxidative stress is a significant contributor to ALS-related neurodegeneration, and it is regulated by cytochromes ... -
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
(2021)Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated ... -
Fanconi syndrome in the adulthood. The role of early diagnosis and treatment
(2017)[No abstract available] -
FCGR3A-V158F polymorphism is a disease-specific pharmacogenetic marker for the treatment of psoriasis with Fc-containing TNFα inhibitors
(2017)Psoriasis is a multifactorial skin disease affecting ∼2% of world's population, causing a dramatic decrease in patients' quality of life and a significant increase in health-care expenses. Biological agents such as the ... -
Gene variants of adhesion molecules act as modifiers of disease severity in MS
(2017)Objective: To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical phenotype of multiple sclerosis (MS). Methods: A total of 389 Greek ... -
Genetic determinants of C1 inhibitor deficiency angioedema age of onset
(2017)Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ... -
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium
(2022)Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication ... -
The greek variant in app gene: The phenotypic spectrum of app mutations
(2021)Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ... -
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
(2021)Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ... -
Impact of body mass index on the age of relapsing-remitting multiple sclerosis onset: A retrospective study
(2021)A BACKROUND: Multiple sclerosis (MS) is a complex chronic disease of the central nervous system (CNS). Body mass index (BMI), a component of metabolic syndrome (MetS), is considered among the risk factors for MS. However, ... -
Integrins AV and B8 Gene Polymorphisms and Risk for Intracerebral Hemorrhage in Greek and Polish Populations
(2017)Α limited number of genetic variants have been linked to the development of intracerebral hemorrhage (ICH). Ιntegrin AV and/or B8-deficient mice were found to develop ICH. The present candidate gene association study was ...