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Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Human mutation, 2020-11, Vol.41 (11), p.1906-1917

2020

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miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Molecular therapy. Methods & clinical development, 2021-12, Vol.23, p.169-183

2021

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Integrated Bioinformatics Analysis of Shared Genes, miRNA, Biological Pathways and Their Potential Role as Therapeutic Targets in Huntington's Disease Stages

International journal of molecular sciences, 2023-03, Vol.24 (5), p.4873

2023

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Transcriptomic analysis reveals sex-specific patterns in the hippocampus in Alzheimer's disease

Frontiers in endocrinology (Lausanne), 2024-04, Vol.15, p.1345498-1345498

2024

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Investigating the Transition of Pre-Symptomatic to Symptomatic Huntington's Disease Status Based on Omics Data

International journal of molecular sciences, 2020-10, Vol.21 (19), p.1

2020

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Dietary Intake, Mediterranean Diet Adherence and Caloric Intake in Huntington's Disease: A Review

Nutrients, 2020-09, Vol.12 (10), p.2946

2020

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Investigation of in-phase bilateral exercise effects on corticospinal plasticity in relapsing remitting multiple sclerosis: A registered report single-case concurrent multiple baseline design across five subjects

PloS one, 2023-03, Vol.18 (3), p.e0272114-e0272114

2023

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The influence of environmental risk factors in the development of ALS in the Mediterranean Island of Cyprus

Frontiers in neurology, 2023, Vol.14, p.1264743-1264743

2023

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Genetic Study of Early Onset Parkinson's Disease in Cyprus

International journal of molecular sciences, 2022-12, Vol.23 (23), p.15369

2022

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Unraveling the transcriptomic signatures of Parkinson’s disease and major depression using single-cell and bulk data

Frontiers in aging neuroscience, 2023-11, Vol.15, p.1273855-1273855

2023

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A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Annals of human genetics, 2014-01, Vol.78 (1), p.13-22

2014

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Retrospective longitudinal study of ALS in Cyprus: Clinical characteristics, management and survival

PloS one, 2019-09, Vol.14 (9), p.e0220246-e0220246

2019

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PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders

Frontiers in immunology, 2023-09, Vol.14, p.1147573-1147573

2023

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Mitochondrial superclusters influence age of onset of Parkinson's disease in a gender specific manner in the Cypriot population: A case-control study

PloS one, 2017-09, Vol.12 (9), p.e0183444-e0183444

2017

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A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia

Frontiers in genetics, 2022-01, Vol.12, p.812640-812640

2022

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Investigating the Dietary Intake Using the CyFFQ Semi-Quantitative Food Frequency Questionnaire in Cypriot Huntington's Disease Patients

Nutrients, 2023-02, Vol.15 (5), p.1136

2023

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Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress

Human molecular genetics, 2017-09, Vol.26 (17), p.3285-3302

2017

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Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

PloS one, 2015-04, Vol.10 (4), p.e0125341-e0125341

2015

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A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

Frontiers in genetics, 2021-11, Vol.12, p.746101-746101

2021

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Serum miRNAs as biomarkers for the rare types of muscular dystrophy

Neuromuscular disorders : NMD, 2022-04, Vol.32 (4), p.332-346

2022

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Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

International journal of molecular sciences, 2018-10, Vol.19 (10), p.3099

2018

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Genetic and Environmental Factors Contributing to Parkinson's Disease: A Case-Control Study in the Cypriot Population

Frontiers in neurology, 2019-10, Vol.10, p.1047-1047

2019

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Prediction of Parkinson's Disease Risk Based on Genetic Profile and Established Risk Factors

Genes, 2021-08, Vol.12 (8), p.1278

2021

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Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Cell & bioscience, 2022-03, Vol.12 (1), p.29-29, Article 29

2022

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Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Integrated Bioinformatics Analysis of Shared Genes, miRNA, Biological Pathways and Their Potential Role as Therapeutic Targets in Huntington's Disease Stages

Transcriptomic analysis reveals sex-specific patterns in the hippocampus in Alzheimer's disease

Investigating the Transition of Pre-Symptomatic to Symptomatic Huntington's Disease Status Based on Omics Data

Dietary Intake, Mediterranean Diet Adherence and Caloric Intake in Huntington's Disease: A Review

Investigation of in-phase bilateral exercise effects on corticospinal plasticity in relapsing remitting multiple sclerosis: A registered report single-case concurrent multiple baseline design across five subjects

The influence of environmental risk factors in the development of ALS in the Mediterranean Island of Cyprus

Genetic Study of Early Onset Parkinson's Disease in Cyprus

Unraveling the transcriptomic signatures of Parkinson’s disease and major depression using single-cell and bulk data

A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Retrospective longitudinal study of ALS in Cyprus: Clinical characteristics, management and survival

PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders

Mitochondrial superclusters influence age of onset of Parkinson's disease in a gender specific manner in the Cypriot population: A case-control study

A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia

Investigating the Dietary Intake Using the CyFFQ Semi-Quantitative Food Frequency Questionnaire in Cypriot Huntington's Disease Patients

Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress

Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

Genetic and Environmental Factors Contributing to Parkinson's Disease: A Case-Control Study in the Cypriot Population

Prediction of Parkinson's Disease Risk Based on Genetic Profile and Established Risk Factors

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

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