A5073719631- Parkinson's Disease Mechanisms and Treatments
- Autoimmune Neurological Disorders and Treatments
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Neurological diseases and metabolism
- Prion Diseases and Protein Misfolding
- Peripheral Neuropathies and Disorders
- Genetic Neurodegenerative Diseases
- Advanced Neuroimaging Techniques and Applications
- Muscle activation and electromyography studies
- Assistive Technology in Communication and Mobility
- Genetics and Neurodevelopmental Disorders
- Myasthenia Gravis and Thymoma
- CRISPR and Genetic Engineering
- Genetic Associations and Epidemiology
- Glycogen Storage Diseases and Myoclonus
- Nuclear Receptors and Signaling
- Infant Health and Development
- Ultrasound and Hyperthermia Applications
- Cerebral Palsy and Movement Disorders
- Ophthalmology and Eye Disorders
- Voice and Speech Disorders
- Cerebrospinal fluid and hydrocephalus
- Genomics and Rare Diseases
Aristotle University of Thessaloniki
2014-2025
G. Papanikolaou General Hospital
2015-2024
Hellenic Open University
2016
National and Kapodistrian University of Athens
2014
The Global Parkinson's Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic clinical data for use in large-scale analyses to dramatically expand our understanding of architecture PD. This report details workflow cohort integration into complex arm GP2, together with outline monogenic hub a companion paper, provides generalizable blueprint establishing large scale collaborative research consortia.
Abstract LRRK2 -PD represents the most common form of autosomal dominant Parkinson’s disease. We identified p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping shared a haplotype. The clinical presentation resembles other forms. Combined published functional evidence showing strongly enhanced kinase activity, we provide that is pathogenic.
Antibody-mediated autoimmune encephalopathies comprise a group of severe conditions with varying degree motor and cognitive symptoms that respond to immunotherapies.1 The associated antibodies are directed against intracellular targets, such as the classic paraneoplastic autoantigens Hu, Yo, Ri, CV2, Ma2/Ta, or enzyme GAD, cell surface antigens receptors ion channels.
Miller-Fisher syndrome (MFS) is considered as a variant of the Guillain-Barre (GBS) and its characteristic clinical features are ophthalmoplegia, ataxia, areflexia. Typically, it associated with anti-GQ1b antibodies; however, significant percentage (>10%) these patients seronegative. Here, we report 67-year-old female patient who presented typical MFS. Workup revealed antibodies against glutamic acid decarboxylase (GAD) in relatively high titers while GQ1b were negative. Neurological...
An ongoing debate on decision and cost-utility analyses is whether to use preferences of general public or patients. The aim this study was replicate the valuation procedure multi-attribute utility generic measure, 15D, using a sample multiple sclerosis (MS) patients assess its psychometric properties. Consecutive outpatient MS were recruited from two centers in Greece. three-stage applied and, with elicited preference weights, an patients’ algorithm developed. original Finnish value set...
Parkinson's disease (PD), the second most prevalent neurodegenerative condition, lacks a cure, but its symptoms can be managed. Its complex diagnosis and assessment need ongoing monitoring, highlighting potential use of digital tools for enhancing patient management, even outside clinical settings. In this vein, paper proposes smartphone-based video analysis approach assessing motor skills, particularly balance posture, in individuals diagnosed with PD. particular, Movement Disorder Society...