Associated Papers
Distinct mechanistic pathways of early tauopathy revealed by MAPT mutations.
Foiani MS et al.
Biorxiv : the Preprint Server for Biology, 2026
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM30_ESM.xlsx › Supplementary_Data_28
In vivo hyperphosphorylation of tau is associated with synaptic loss and behavioral abnormalities in the absence of tau seeds.
Watamura N et al.
Nature Neuroscience, 2025
Tau mRNA Metabolism in Neurodegenerative Diseases: A Tangle Journey.
da Costa PJ et al.
Biomedicines, 2022
Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome.
Shilo A et al.
Nucleic Acids Research, 2019
Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.
Rossi G et al.
Frontiers in Aging Neuroscience, 2015
The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons.
Iovino M et al.
Acta Neuropathologica, 2014
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
Cruts M et al.
Nature, 2006
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M et al.
Nature, 2006
Mutational analysis of PHEX gene in X-linked hypophosphatemia.
Dixon PH et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
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