AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 187 | 2019 |
Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease M Breza, G Koutsis Journal of neurology 266 (3), 565-573, 2019 | 77 | 2019 |
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of Neurology 86 (2), 225-240, 2019 | 69 | 2019 |
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study K Reetz, I Dogan, RD Hilgers, P Giunti, MH Parkinson, C Mariotti, ... The Lancet Neurology 20 (5), 362-372, 2021 | 63 | 2021 |
Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification LV Schottlaender, R Abeti, Z Jaunmuktane, C Macmillan, V Chelban, ... The American Journal of Human Genetics 106 (3), 412-421, 2020 | 54 | 2020 |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing DS Lynch, G Koutsis, A Tucci, M Panas, M Baklou, M Breza, G Karadima, ... European journal of human genetics 24 (6), 857-863, 2016 | 54 | 2016 |
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination S Efthymiou, V Salpietro, N Malintan, M Poncelet, Y Kriouile, S Fortuna, ... Brain 142 (10), 2948-2964, 2019 | 49 | 2019 |
Validation of differentially expressed brain‐enriched microRNAs in the plasma of PD patients S Ravanidis, A Bougea, N Papagiannakis, C Koros, AM Simitsi, I Pachi, ... Annals of clinical and translational neurology 7 (9), 1594-1607, 2020 | 43 | 2020 |
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants C Neuray, R Maroofian, M Scala, T Sultan, GS Pai, M Mojarrad, ... Brain 143 (8), 2388-2397, 2020 | 31 | 2020 |
Frontotemporal dementia as the presenting phenotype of p. A53T mutation carriers in the alpha-synuclein gene A Bougea, C Koros, M Stamelou, A Simitsi, N Papagiannakis, ... Parkinsonism & Related Disorders 35, 82-87, 2017 | 28 | 2017 |
Differences in neurology residency training programmes across Europe–a survey among the Residents and Research Fellow Section of the European Academy of Neurology national … NN Kleineberg, M van der Meulen, C Franke, L Klingelhoefer, ... European journal of neurology 27 (8), 1356-1363, 2020 | 26 | 2020 |
Monoclonal antibodies targeting CGRP: from clinical studies to real-world evidence—what do we know so far? T Mavridis, CI Deligianni, G Karagiorgis, A Daponte, M Breza, ... Pharmaceuticals 14 (7), 700, 2021 | 18 | 2021 |
Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases OV Poole, C Pizzamiglio, D Murphy, M Falabella, WL Macken, ... Annals of Neurology 89 (6), 1240-1247, 2021 | 18 | 2021 |
Recurrent fulminant tumefactive demyelination with marburg-like features and atypical presentation: therapeutic dilemmas and review of literature AG Vakrakou, D Tzanetakos, T Argyrakos, G Koutsis, ME Evangelopoulos, ... Frontiers in neurology 11, 536, 2020 | 17 | 2020 |
A longitudinal study of cognitive function in multiple sclerosis: is decline inevitable? M Katsari, DS Kasselimis, E Giogkaraki, M Breza, ME Evangelopoulos, ... Journal of neurology 267, 1464-1475, 2020 | 17 | 2020 |
FYN, SARS-CoV-2, and IFITM3 in the neurobiology of alzheimer's disease GD Vavougios, M Breza, T Mavridis, KA Krogfelt Brain Disorders 3, 100022, 2021 | 16 | 2021 |
Deciphering anti-MOG IgG antibodies: clinical and radiological spectrum, and comparison of antibody detection assays JS Tzartos, K Karagiorgou, D Tzanetakos, M Breza, ME Evangelopoulos, ... Journal of the Neurological Sciences 410, 116673, 2020 | 15 | 2020 |
Novel cell-based assay for alpha-3 nicotinic receptor antibodies detects antibodies exclusively in autoimmune autonomic ganglionopathy K Karagiorgou, M Dandoulaki, R Mantegazza, F Andreetta, R Furlan, ... Neurology: Neuroimmunology & Neuroinflammation 9 (3), e1162, 2022 | 13 | 2022 |
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot‐Marie‐Tooth disease reveals a varied and unusual … Z Kontogeorgiou, K Nikolaou, C Kartanou, M Breza, M Panas, ... Journal of the Peripheral Nervous System 24 (1), 125-130, 2019 | 13 | 2019 |
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease M Breza, J Hirst, V Chelban, G Banneau, L Tissier, B Kol, T Bourinaris, ... Movement Disorders 36 (4), 1034-1038, 2021 | 11 | 2021 |