Search Results - "Mitrousias, Alexandros"
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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
Published in Journal of the neurological sciences (15-12-2024)“…Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30years of age. Intronic tandem repeat expansions (TREs) in…”
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The FGF14 GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
Published in Clinical genetics (01-04-2024)“…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…”
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Autophagy Flux is Induced in Gastroenteropancreatic Neuroendocrine Neoplasms
Published in European medical journal. Oncology (25-10-2022)Get full text
Journal Article