Search Results - "Kondo, Shizuko"
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A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy
Published in Acta neuropathologica communications (10-08-2023)“…Right temporal variant frontotemporal dementia, also called right-predominant semantic dementia, often has an unclear position within the framework of the…”
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Journal Article -
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PABPC1 mediates degradation of C9orf72-FTLD/ALS GGGGCC repeat RNA
Published in iScience (15-03-2024)“…GGGGCC hexanucleotide repeat expansion in C9orf72 causes frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Expanded GGGGCC repeat RNA…”
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Journal Article