Fisher, Elizabeth M. C.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,946

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., et al. (2005) · Nature Genetics

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 822

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

Rogers, D. C., Fisher, E. M. C., Brown, S. D. M., Peters, J., Hunter, A. J., & Martin, J. E. (1997) · Mammalian Genome

Animal Behavior and Welfare StudiesNeuroscience and Neuropharmacology Research

Cited by 795

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

Cited by 740

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

Cited by 626

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

Wiseman, F. K., Al-Janabi, T., Hardy, J., Karmiloff-Smith, A., Nizetic, D., Tybulewicz, V. L. J., Fisher, E. M. C., & Strydom, A. (2015) · Nature Reviews Neuroscience

Alzheimer's disease research and treatmentsDown syndrome and intellectual disability research

Cited by 562

An Aneuploid Mouse Strain Carrying Human Chromosome 21 with down Syndrome Phenotypes.

O'Doherty, A., Ruf, S., Mulligan, C., Hildreth, V., Errington, M. L., Cooke, S., Sesay, A., Modino, S., Vanes, L., Hernandez, D., et al. (2005) · Science

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 434

Molecular mapping of alzheimer‐type dementia in Down's syndrome

Prasher, V. P., Farrer, M. J., Kessling, A. M., Fisher, E. M. C., West, R. J., Barber, P. C., & Butler, A. C. (1998) · Annals of Neurology

Down syndrome and intellectual disability researchAlzheimer's disease research and treatments

Cited by 414

Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics

Mead, S., Stumpf, M. P. H., Whitfield, J., Beck, J. A., Poulter, M., Campbell, T., Uphill, J. B., Goldstein, D., Alpers, M., Fisher, E. M. C., et al. (2003) · Science

Prion Diseases and Protein MisfoldingEvolution and Genetic Dynamics

Cited by 394

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J.-C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L.-S., Bis, J. C., Bellenguez, C., et al. (2016) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 297

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

Prudencio, M., Humphrey, J., Pickles, S., Brown, A.-L., Hill, S. E., Kachergus, J. M., Shi, J., Heckman, M. G., Spiegel, M. R., Cook, C., et al. (2020) · Journal of Clinical Investigation

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 231

Application of neurite orientation dispersion and density imaging (NODDI) to a tau pathology model of Alzheimer's disease

Colgan, N., Siow, B., O'Callaghan, J. M., Harrison, I. F., Wells, J. A., Holmes, H. E., Ismail, O., Richardson, S., Alexander, D. C., Collins, E. C., et al. (2016) · NeuroImage

Advanced Neuroimaging Techniques and ApplicationsDementia and Cognitive Impairment Research

Cited by 218

SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice

Rogers, D. C., Peters, J., Martin, J. E., Ball, S., Nicholson, S. J., Witherden, A. S., Hafezparast, M., Latcham, J., Robinson, T. L., Quilter, C. A., et al. (2001) · Neuroscience Letters

Animal Behavior and Welfare StudiesAnimal testing and alternatives

Cited by 199

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years

Hithersay, R., Startin, C. M., Hamburg, S., Mok, K. Y., Hardy, J., Fisher, E. M. C., Tybulewicz, V. L. J., Nizetic, D., & Strydom, A. (2019) · JAMA Neurology

Down syndrome and intellectual disability researchDementia and Cognitive Impairment Research

Cited by 176

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

Cited by 167

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

Alić, I., Goh, P. A., Murray, A., Portelius, E., Gkanatsiou, E., Gough, G., Mok, K. Y., Koschut, D., Brunmeir, R., Yeap, Y. J., et al. (2021) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDown syndrome and intellectual disability research

Cited by 123

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

Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of down Syndrome.

Gribble, S. M., Wiseman, F. K., Clayton, S., Prigmore, E., Langley, E., Yang, F., Maguire, S., Fu, B., Rajan, D., Sheppard, O., et al. (2013) · PLoS ONE

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 102

Comparison of in vivo and ex vivo MRI for the detection of structural abnormalities in a mouse model of tauopathy

Holmes, H. E., Powell, N. M., Ma, D., Ismail, O., Harrison, I. F., Wells, J. A., Colgan, N., O'Callaghan, J. M., Johnson, R. A., Murray, T. K., et al. (2017) · Frontiers in Neuroinformatics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 55

Imaging the accumulation and suppression of tau pathology using multiparametric MRI

Holmes, H. E., Colgan, N., Ismail, O., Ma, D., Powell, N. M., O'Callaghan, J. M., Harrison, I. F., Johnson, R. A., Murray, T. K., Ahmed, Z., et al. (2016) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 51

Alterations to Dendritic Spine Morphology, but Not Dendrite Patterning, of Cortical Projection Neurons in Tc1 and Ts1Rhr Mouse Models of Down Syndrome

Haas, M. A., Bell, D., Slender, A., Lana-Elola, E., Watson-Scales, S., Fisher, E. M. C., Tybulewicz, V. L. J., & Guillemot, F. (2013) · PLoS ONE

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 48

Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome

Chang, P., Bush, D., Schorge, S., Good, M., Canonica, T., Shing, N., Noy, S., Wiseman, F. K., Burgess, N., Tybulewicz, V. L. J., et al. (2020) · Cell Reports

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 47

Analysis of motor dysfunction in down Syndrome reveals motor neuron degeneration.

Watson-Scales, S., Kalmar, B., Lana-Elola, E., Gibbins, D., La Russa, F., Wiseman, F., Williamson, M., Saccon, R., Slender, A., Olerinyova, A., et al. (2018) · PLOS Genetics

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 45