Search Results - "Athanassopoulos, Konstantinos"

Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms by Koutsis, Georgios, Kartanou, Chrisoula, Kontogeorgiou, Zoi, Koniari, Chrysoula, Mitrousias, Alexandros, Pellerin, David, Dicaire, Marie-Jose, Iruzubieta, Pablo, Danzi, Matt C., Athanassopoulos, Konstantinos, Ragazos, Nikolaos, Stamelou, Maria, Rentzos, Michail, Anagnostou, Evangelos, Zuchner, Stephan, Brais, Bernard, Houlden, Henry, Panas, Marios, Stefanis, Leonidas, Karadima, Georgia

“…Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30years of age. Intronic tandem repeat expansions (TREs) in…”
Get full text

The FGF14 GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations by Kartanou, Chrisoula, Mitrousias, Alexandros, Pellerin, David, Kontogeorgiou, Zoi, Iruzubieta, Pablo, Dicaire, Marie‐Josée, Danzi, Matt C., Koniari, Chrysoula, Athanassopoulos, Konstantinos, Panas, Marios, Stefanis, Leonidas, Zuchner, Stephan, Brais, Bernard, Houlden, Henry, Karadima, Georgia, Koutsis, Georgios

“…A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (FGF14) has been recently identified as the cause of…”
Get full text