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.

Publication Year: 2023

DOI:
10.1186/s40478-023-01629-3

PMCID:
PMC10413539

PMID:
37563653

Journal Information

Full Title: Acta Neuropathol Commun

Abbreviation: Acta Neuropathol Commun

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Declarations Ethics approval and consent to participateThis case description is based on written informed consent obtained from the patient’s family. Consent for publicationConsent for publication was obtained from the patient’s family. This study was approved by the ethics committees of Osaka University (No. 453-2, L018-3) and Osaka University Hospital (No. 20043). Competing interestsAll authors declare that they have no conflict of interest. Competing interests All authors declare that they have no conflict of interest."

Evidence found in paper:

"Funding This study is supported by the JSPS KAKENHI Grant Numbers JP20H03602 (KM), JP20H05927 (KM), JP22K19492 (KM), JP22K07550 (YS), JP22K07538 (SM), JP22H04923 [CoBiA] (YS, SM); JSPS Research Fellowship for Young Scientists JP22J12248 (SG); JST FOREST Program under grant number JPMJFR200Z (KM); AMED under Grant Numbers JP21wm0425019 (YS, SM), JP21ek0109510h (MI) and JP22bm0804034h (MI)."

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Open Access
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Tool: rtransparent

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Last Updated: Aug 05, 2025