ΠΕΡΙΛΗΨΕΙΣ ΔΙΕΘΝΩΣ
Ιανουάριος 2022
ΠΕΡΙΛΗΨΕΙΣ ΔΙΕΘΝΩΣ
Αρθρογράφος:

ΠΕΡΙΛΗΨΕΙΣ ΣΕ ΔΙΕΘΝΗ ΕΠΙΣΤΗΜΟΝΙΚΑ ΠΕΡΙΟΔΙΚΑ

1) K. Anagnostopoulou, R. Pons, A. Dinopoulos, G. Vartzelis, A. Gika, E. Skouteli, S. Mouskou, M. Spanou, M. Giorgi, A. Stephanede, E. Kokkinou, B. Zouvelou, H. Kontos. Whole exome sequencing in the diagnosis of neuropaediatric diseases. Eur J Paediatr Neurol 21(1):e56. 12th European Paediatric Neurology Society (EPNS) Congress. Lyon, France, 20-24 June 2017.

2) M.A. Karalexi, K. Anagnostopoulou, M. Spanou, S. Mouskou, M. Giorgi, M. Tsirouda, A. Dinopoulos. A novel familial mutation in Alexander disease with marked variation in clinical severity. Eur J Paediatr Neurol 21(1):e59-e60. 12th European Paediatric Neurology Society (EPNS) Congress. Lyon, France, 20-24 June 2017.

3) M. Spanou, K. Anagnostopoulou, A. Stephanede, M. Tsirouda, M. Giorgi, M. Koutsaki, R. Artuch, A. Dinopoulos. Spinocerebellar ataxia type 29 in 2 siblings manifesting as coQ10 deficiency. Eur J Paediatr Neurol 21(1):e58. 12th European Paediatric Neurology Society (EPNS) Congress. Lyon, France, 20-24 June 2017.

ΠΕΡΙΛΗΨΕΙΣ ΣΕ ΔΙΕΘΝΗ ΣΥΝΕΔΡΙΑ

1) K. Anagnostopoulou, A. Dinopoulos, R. Pons, G. Vartzelis, E. Skouteli, A. Gika, S. Mouskou, M. Spanou, M. Giorgi, A. Stephanede, G. Niotakis, I. Nakou, E. Kokkinou, B. Zouvelou, H. Kontos. Genetic analysis of early onset epileptic encephalopathies: 8-year experience. 13th European Paediatric Neurology Society (EPNS) Congress, Megaron Athens International Conference Center, Athens, Greece, 17-21 September 2019.

2) Stella Mouskou, Katherine Anagnostopoulou, Sotiria Mastroyianni, Konstantinos Voudris, George Vartzelis, Anastasia Korona, Maria Mpalla, Harry Kontos, Efstathia Katsarou-Pectacides. A novel DEPDC5 mutation and a known pathogenic mutation in CLCN1 gene in a family with Epilepsy and a variable phenotype. 13th European Paediatric Neurology Society (EPNS) Congress, Megaron Athens International Conference Center, Athens, Greece, 17-21 September 2019.

3) Maria Spanou, Melpomeni Giorgi, Maria Tsirouda, Katherine Anagnostopoulou, Edward Schuchman, Argirios Dinopoulos. Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy. Report of a Greek paediatric patient. 13th European Paediatric Neurology Society (EPNS) Congress, Megaron Athens International Conference Center, Athens, Greece, 17-21 September 2019.

4) Melpomeni Giorgi, George Vartzelis, Maria Spanou, Maria Tsirouda, Anastasia Korona, Katerina Anagnostopoulou, Argirios Dinopoulos. Heterogeneity in early Infantile Epileptic ncephalopathies other than SCN1A – Description of 21 cases. 13th European Paediatric Neurology Society (EPNS) Congress, Megaron Athens International Conference Center, Athens, Greece, 17-21 September 2019.

5) Maria Spanou, Katherine Anagnostopoulou, Maria Tsirouda, Melpomeni Giorgi, Eleni Pantazi, Stamatina Poula, Haris Kontos, Georgios Vartzelis, Argirios Dinopoulos. IRF2BPL mutation causing a neurodegenerative phenotype with Movement Disorder and Bulbar Palsy. 13th European Paediatric Neurology Society (EPNS) Congress, Megaron Athens International Conference Center, Athens, Greece, 7-21 September 2019.

6) Sergio Aguilera-Albesa, Lubov Blumkin, Roser Pons, Maria Eugenia Yoldi, Raúl Etxandi, Dorit Lev, Tally Lerman-Sagie, Katerina Anagnostopoulou, Amparo Andrés-Bordería, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós. ß-III Spectrin gene variants in nonprogressive congenital Ataxias: widening the associated phenotype. 13th European Paediatric Neurology Society (EPNS) Congress, Megaron Athens International Conference Center, Athens, Greece, 17-21 September 2019.