Search Results - "Papaioannou, Myrto G"
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From Cerebrospinal Fluid Neurochemistry to Clinical Diagnosis of Alzheimer’s Disease in the Era of Anti-Amyloid Treatments. Report of Four Patients
Published in Biomedicines (01-10-2021)“…Analysis of classical cerebrospinal fluid biomarkers, especially when incorporated in a classification/diagnostic system such as the AT(N), may offer a…”
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Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
Published in American journal of human genetics (01-11-2007)“…We report mutations in the gene for topoisomerase I–binding RS protein ( TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to…”
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TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
Published in Human molecular genetics (01-03-2011)“…We recently reported that mutations in the widely expressed nuclear protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal…”
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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
Published in Human molecular genetics (2002)“…Retinitis pigmentosa (RP), the commonest form of inherited retinal dystrophies is a clinically and genetically heterogeneous disorder. It is characterized by…”
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Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
Published in Human molecular genetics (01-01-2002)“…Retinitis pigmentosa (RP), the commonest form of inherited retinal dystrophies is a clinically and genetically heterogeneous disorder. It is characterized by…”
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Journal Article