Isaacs, Adrian M.

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

Mizielinska, S., Grönke, S., Niccoli, T., Ridler, C. E., Clayton, E. L., Devoy, A., Moens, T., Norona, F. E., Woollacott, I. O. C., Pietrzyk, J., et al. (2014) · Science

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

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C9orf72-mediated ALS and FTD: multiple pathways to disease

Balendra, R., & Isaacs, A. M. (2018) · Nature Reviews Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 715

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease

Filimonenko, M., Stuffers, S., Raiborg, C., Yamamoto, A., Malerød, L., Fisher, E. M. C., Isaacs, A., Brech, A., Stenmark, H., & Simonsen, A. (2007) · The Journal of Cell Biology

Autophagy in Disease and TherapyCellular transport and secretion

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The heritability and genetics of frontotemporal lobar degeneration

Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., Isaacs, A. M., Authier, A., Ferrari, R., Fox, N. C., et al. (2009) · Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

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Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Beck, J., Poulter, M., Hensman, D., Rohrer, J. D., Mahoney, C. J., Adamson, G., Campbell, T., Uphill, J., Borg, A., Fratta, P., et al. (2013) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 345

Evolution of the Aging Brain Transcriptome and Synaptic Regulation

Loerch, P. M., Lu, T., Dakin, K. A., Vann, J. M., Isaacs, A., Geula, C., Wang, J., Pan, Y., Gabuzda, D. H., Li, C., et al. (2008) · PLoS ONE

Genetics, Aging, and Longevity in Model OrganismsNeuroscience and Neuropharmacology Research

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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

van der Zee, J., Urwin, H., Engelborghs, S., Bruyland, M., Vandenberghe, R., Dermaut, B., De Pooter, T., Peeters, K., Santens, P., De Deyn, P. P., et al. (2008) · Human Molecular Genetics

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

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Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

Ghazi-Noori, S., Froud, K. E., Mizielinska, S., Powell, C., Smidak, M., Fernandez de Marco, M., O’Malley, C., Farmer, M., Parkinson, N., Fisher, E. M. C., et al. (2012) · Brain

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 115

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

The FReJA consortium, Clayton, E. L., Mizielinska, S., Edgar, J. R., Nielsen, T. T., Marshall, S., Norona, F. E., Robbins, M., Damirji, H., Holm, I. E., et al. (2015) · Acta Neuropathologica

Lysosomal Storage Disorders ResearchAlzheimer's disease research and treatments

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Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22

Baker, M., Kwok, J. B. J., Kucera, S., Crook, R., Farrer, M., Houlden, H., Isaacs, A., Lincoln, S., Onstead, L., Hardy, J., et al. (1997) · Annals of Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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The Neurolipid Atlas: a lipidomics resource for neurodegenerative diseases

Feringa, F. M., Koppes-den Hertog, S. J., Wang, L. Y., Derks, R. J. E., Kruijff, I., Erlebach, L., Heijneman, J., Miramontes, R., Pömpner, N., Blomberg, N., et al. (2025) · Nature Metabolism

Metabolomics and Mass Spectrometry StudiesAlzheimer's disease research and treatments

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Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

Clayton, E. L., Mancuso, R., Nielsen, T. T., Mizielinska, S., Holmes, H., Powell, N., Norona, F., Overgaard Larsen, J., Milioto, C., Wilson, K. M., et al. (2017) · Human Molecular Genetics

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

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