Schofield, Peter R.

Clinical and biomarker changes in dominantly inherited Alzheimer's disease

Bateman, R. J., Xiong, C., Benzinger, T. L. S., Fagan, A. M., Goate, A., Fox, N. C., Marcus, D. S., Cairns, N. J., Xie, X., Blazey, T. M., et al. (2012) · New England Journal of Medicine

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

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Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

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Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Genome-wide association study identifies 30 loci associated with bipolar disorder

eQTLGen Consortium, Stahl, E. A., BIOS Consortium, the Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Breen, G., Forstner, A. J., McQuillin, A., Ripke, S., Trubetskoy, V., Mattheisen, M., et al. (2019) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Mullins, N., Forstner, A. J., O’Connell, K. S., Coombes, B., Coleman, J. R. I., Qiao, Z., Als, T. D., Bigdeli, T. B., Børte, S., Bryois, J., et al. (2021) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

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Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Lee, P. H., Anttila, V., Won, H., Feng, Y.-C. A., Rosenthal, J., Zhu, Z., Tucker-Drob, E. M., Nivard, M. G., Grotzinger, A. D., Posthuma, D., et al. (2019) · Cell

Genetic Associations and EpidemiologySchizophrenia research and treatment

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Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

Psychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., Edenberg, H. J., Nurnberger, J. I., Rietschel, M., et al. (2011) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

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Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease

Dominantly Inherited Alzheimer Network, Preische, O., Schultz, S. A., Apel, A., Kuhle, J., Kaeser, S. A., Barro, C., Gräber, S., Kuder-Buletta, E., LaFougere, C., et al. (2019) · Nature Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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The genetic architecture of the human cerebral cortex

Grasby, K. L., Jahanshad, N., Painter, J. N., Colodro-Conde, L., Bralten, J., Hibar, D. P., Lind, P. A., Pizzagalli, F., Ching, C. R. K., McMahon, M. A. B., et al. (2020) · Science

Genetic Associations and EpidemiologyCognitive Abilities and Testing

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Common genetic variants influence human subcortical brain structures

Initiative, T. A. D. N., Hibar, D. P., The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

the Alzheimer’s Disease Neuroimaging Initiative, E. C., Thompson, P. M., Stein, J. L., Medland, S. E., Hibar, D. P., Vasquez, A. A., Renteria, M. E., Toro, R., Jahanshad, N., Schumann, G., et al. (2014) · Brain Imaging and Behavior

Genetic Associations and EpidemiologyFunctional Brain Connectivity Studies

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A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease

the Dominantly Inherited Alzheimer Network, Barthélemy, N. R., Li, Y., Joseph-Mathurin, N., Gordon, B. A., Hassenstab, J., Benzinger, T. L. S., Buckles, V., Fagan, A. M., Perrin, R. J., et al. (2020) · Nature Medicine

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Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer's disease: a longitudinal study

Gordon, B. A., Blazey, T. M., Su, Y., Hari-Raj, A., Dincer, A., Flores, S., Christensen, J., McDade, E., Wang, G., Xiong, C., et al. (2018) · The Lancet Neurology

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White matter hyperintensities are a core feature of Alzheimer’s disease: evidence from the dominantly inherited Alzheimer network

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Interactions between BDNF Val66Met polymorphism and early life stress predict brain and arousal pathways to syndromal depression and anxiety

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Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

Ryman, D. C., Acosta-Baena, N., Aisen, P. S., Bird, T., Danek, A., Fox, N. C., Goate, A., Frommelt, P., Ghetti, B., Langbaum, J. B. S., et al. (2014) · Neurology

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Longitudinal Change in CSF Biomarkers in Autosomal-Dominant Alzheimer’s Disease

Fagan, A. M., Xiong, C., Jasielec, M. S., Bateman, R. J., Goate, A. M., Benzinger, T. L. S., Ghetti, B., Martins, R. N., Masters, C. L., Mayeux, R., et al. (2014) · Science Translational Medicine

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Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease

Benzinger, T. L. S., Blazey, T., Jack, C. R., Koeppe, R. A., Su, Y., Xiong, C., Raichle, M. E., Snyder, A. Z., Ances, B. M., Bateman, R. J., et al. (2013) · Proceedings of the National Academy of Sciences

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Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)

Davies, G., Armstrong, N., Bis, J. C., Bressler, J., Chouraki, V, Giddaluru, S., Hofer, E., Ibrahim-Verbaas, C. A., Kirin, M., Lahti, J., et al. (2015) · Molecular Psychiatry

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Frontotemporal dementia and its subtypes: a genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., et al. (2014) · The Lancet Neurology

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Genome-wide association study reveals two new risk loci for bipolar disorder

Mühleisen, T. W., Leber, M., Schulze, T. G., Strohmaier, J., Degenhardt, F., Treutlein, J., Mattheisen, M., Forstner, A. J., Schumacher, J., Breuer, R., et al. (2014) · Nature Communications

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An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

Dube, U., Del-Aguila, J. L., Li, Z., Budde, J. P., Jiang, S., Hsu, S., Ibanez, L., Fernandez, M. V., Farias, F., Norton, J., et al. (2019) · Nature Neuroscience

Circular RNAs in diseasesAlzheimer's disease research and treatments

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Genetics of dementia

Loy, C. T., Schofield, P. R., Turner, A. M., & Kwok, J. B. (2014) · The Lancet

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Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid

Drieu, A., Du, S., Storck, S. E., Rustenhoven, J., Papadopoulos, Z., Dykstra, T., Zhong, F., Kim, K., Blackburn, S., Mamuladze, T., et al. (2022) · Nature

Cerebrospinal fluid and hydrocephalusNeuroinflammation and Neurodegeneration Mechanisms

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