Search Results - "Provatas, Antonios"
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Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations
Published in International journal of molecular sciences (16-11-2021)“…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…”
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A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
Published in Journal of molecular neuroscience (2020)“…ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been…”
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Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A Review
Published in Journal of integrative neuroscience (06-09-2024)“…Alzheimer's Disease (AD) is a progressive neurodegenerative disease and the main cause of dementia. Its etiology remains largely unclear, though genetic and…”
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Acute Anterior Choroidal Artery Territory Infarction: A Case Series Report
Published in Neurology international (01-04-2024)“…Due to the occlusion of the anterior choroidal artery (AChA), ischemic strokes are described with the classic clinical triad, namely hemiplegia,…”
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Anti-MOG Positive Bilateral Optic Neuritis and Brainstem Encephalitis Secondary to COVID-19 Infection: A Case Report
Published in Neurology international (30-11-2022)“…(1) Introduction: There have been numerous reports on the neuroinvasive competence of SARS-CoV-2. Here, we present a case with anti-MOG positive bilateral…”
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Pesticides, cognitive functions and dementia: A review
Published in Toxicology letters (15-06-2020)“…•Pesticide exposure has been associated with cognitive decline and dementia.•The estimation of the exposure to pesticides is frequently performed without…”
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Motor signs and incident dementia with Lewy bodies in older adults with mild cognitive impairment
Published in Journal of the American Geriatrics Society (JAGS) (05-11-2024)“…Motor signs may herald incident dementia and allow the earlier detection of high-risk individuals and the timely implementation of preventive interventions…”
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The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database
Published in Neurobiology of aging (01-12-2019)“…A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has been strongly associated with familial amyotrophic lateral sclerosis…”
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Posterior reversible encephalopathy in a GT1a positive oculopharyngeal variant of Guillain-Barré syndrome: A case-report and review of the literature
Published in Clinical neurology and neurosurgery (01-09-2020)“…•The co-existence of GBS and PRES is an extremely rare entity.•Dysautonomia is present in up to two-thirds of patients with GBS and can contribute to…”
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Body mass index in patients with Multiple Sclerosis: a meta-analysis
Published in Neurological research (New York) (02-09-2019)“…Background: The impact of nutrition and diet on the etiology of Multiple Sclerosis (MS) has been evaluated through a number of studies. Only a limited number…”
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α‐Synuclein (SNCA) A30G Mutation as a Cause of a Complex Phenotype Without Parkinsonism
Published in Movement disorders (01-09-2021)Get full text
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Baseline neurofilament levels in cerebrospinal fluid do not correlate with long-term prognosis in multiple sclerosis
Published in Multiple sclerosis and related disorders (01-08-2022)“…•No association was shown between NfLs in CSF at baseline and long-term prognosis (disability and severity) of MS.•Older age of onset was significantly…”
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Recurrent episodes of syncope requiring pacemaker implantation as an initial presentation of neuromyelitis optica spectrum disorder
Published in Multiple sclerosis and related disorders (01-10-2020)“…Neuromyelitis Optica Spectrum Disorders (NMOSD) can manifest with a variety of heterogeneous symptoms, mainly encompassing optic neuritis, acute myelitis and…”
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases
Published in Neurology. Genetics (01-06-2020)“…The aim of this study was to evaluate the correlation between the various mutations and their clinical and genetic profile, along with the presentation of a…”
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Gene variants of adhesion molecules act as modifiers of disease severity in MS
Published in Neurology : neuroimmunology & neuroinflammation (01-07-2017)“…OBJECTIVE:To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical…”
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Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (12-06-2020)“…Several European studies examined the role of C9orf72 repeat expansion in patients with Huntington-disease like phenotypes (HD-L). The scope of our study is to…”
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Acute Anterior Choroidal Artery Territory Infarction: A Case Series Report
Published in Neurology international (29-02-2024)“…Due to the occlusion of the anterior choroidal artery (AChA), ischemic strokes are described with the classic clinical triad, namely hemiplegia,…”
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