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Keywords: Frontotemporal dementia
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Journal Articles
Journal Articles
Dis Model Mech (2024) 17 (12): dmm050359.
Published: 23 December 2024
... and tau-negative inclusion bodies that also include TDP43 (Josephs, 2008 ; Olney et al., 2017). In particular, variants in VCP cause a specific type of FTLD, inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) and amyotrophic lateral sclerosis (ALS), also...
Includes: Supplementary data
Journal Articles
Journal Articles
Dis Model Mech (2023) 16 (6): dmm050093.
Published: 30 June 2023
... Frontotemporal dementia Genetics Skin tumours Ubiquitination National Health and Medical Research Council http://dx.doi.org/10.13039/501100000925 GNT1138223 University of Sydney http://dx.doi.org/10.13039/501100001774 NIHR Newcastle Biomedical Research Centre http...
Journal Articles
Dis Model Mech (2022) 15 (9): dmm049418.
Published: 13 September 2022
...Maize C. Cao; Emma L. Scotter ABSTRACT TDP-43 proteinopathy is the major pathology in amyotrophic lateral sclerosis (ALS) and tau-negative frontotemporal dementia (FTD). Mounting evidence implicates loss of normal TDP-43 RNA-processing function as a key pathomechanism. However, the RNA targets...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2021) 14 (11): dmm049092.
Published: 1 December 2021
...Fréderike W. Riemslagh; Rob F. M. Verhagen; Esmay C. van der Toorn; Daphne J. Smits; Wim H. Quint; Herma C. van der Linde; Tjakko J. van Ham; Rob Willemsen ABSTRACT The hexanucleotide (G 4 C 2)-repeat expansion in the C9ORF72 gene is the most common pathogenic cause of frontotemporal dementia (FTD...
Includes: Supplementary data