Όλο το DSpace

Πλοήγηση ανά Θέμα "Notch3 receptor"

Αποτελέσματα 1-3 από 3

    • CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases 

      Paraskevas G.P., Stefanou M.I., Constantinides V.C., Bakola E., Chondrogianni M., Giannopoulos S., Kararizou E., Boufidou F., Zompola C., Tsantzali I., Theodorou A., Palaiodimou L., Vikelis M., Lachanis S., Papathanasiou M., Bakirtzis C., Koutroulou I., Karapanayiotides T., Xiromerisiou G., Kapaki E., Tsivgoulis G. (2022)
      Background: Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation ...

    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases 

      Xiromerisiou G., Marogianni C., Dadouli K., Zompola C., Georgouli D., Provatas A., Theodorou A., Zervas P., Nikolaidou C., Stergiou S., Ntellas P., Sokratous M., Stathis P., Paraskevas G.P., Bonakis A., Voumvourakis K., Hadjichristodoulou C., Hadjigeorgiou G.M., Tsivgoulis G. (2020)
      Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ...

    • Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome 

      Psychogios K., Xiromerisiou G., Kargiotis O., Safouris A., Fiolaki A., Bonakis A., Paraskevas G.P., Giannopoulos S., Tsivgoulis G. (2021)
      Background: Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek ...