Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.

Journal Information

Full Title: Neurobiol Aging

Abbreviation: Neurobiol Aging

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Geriatrics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
2/6
0.0% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
Evidence found in paper:

"Disclosure statement The authors declare that they have no conflict of interest. None of the authors' institutions have contracts relating to this research through which it or any other organization may stand to gain financially now or in the future. None of the authors or their institutions hold any other agreements that could be seen as involving a financial interest in this work. All appropriate approval and procedures were used concerning human subjects and animals."

Evidence found in paper:

"The authors thank the research participants for their contribution to the study. The Dementia Research Center is supported by Alzheimer's Research UK, Brain Research Trust, and The Wolfson Foundation. This work was supported by the NIHR Queen Square Dementia Biomedical Research Unit, the NIHR UCL/H Biomedical Research Center and the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility as well as an Alzheimer's Society grant (AS-PG-16-007) and the MRC UK GENFI grant (MR/M023664/1). JDR is supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and has received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). IS, MB, and HB are supported by the UK Dementia Research Institute which receives its funding from DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. MB is also supported by a Fellowship award from the Alzheimer's Society, UK (AS-JF-19a-004-517). IOCW is supported by the MRC Clinical Research Training Fellowship (MR/M018288/1). RS is supported by an Alzheimer's Research UK Clinical Research Training Fellowship (ARUK-CRF2017B-2). The GIF template database includes volumetric MRI scans from the University College London Genetic FTD Initiative (GENFI) study (www.genfi.org.uk) which is funded by the Medical Research Council UK GENFI grant (MR/M023664/1). Imogen J. Swift: Conceptualization, Methodology, Writing - original draft. Martina Bocchetta: Writing - review & editing, Resources, Data curation. Hanya Benotmane: Data curation, Writing - review & editing. Ione OC. Woollacott: Investigation, Writing - review & editing. Rachelle Shafei: Investigation, Writing - review & editing. Jonathan D. Rohrer: Conceptualization, Methodology, Writing - review & editing, Visualization, Supervision, Funding acquisition."

Protocol Registration
Open Access
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025