Tabrizi, Sarah J.

Huntington disease

Bates, G. P., Dorsey, R., Gusella, J. F., Hayden, M. R., Kay, C., Leavitt, B. R., Nance, M., Ross, C. A., Scahill, R. I., Wetzel, R., et al. (2015) · Nature Reviews Disease Primers

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 1,641

Huntington disease: natural history, biomarkers and prospects for therapeutics

Ross, C. A., Aylward, E. H., Wild, E. J., Langbehn, D. R., Long, J. D., Warner, J. H., Scahill, R. I., Leavitt, B. R., Stout, J. C., Paulsen, J. S., et al. (2014) · Nature Reviews Neurology

Genetic Neurodegenerative DiseasesDeep Brain Stimulation and Movement Disorders

Cited by 1,016

Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

Tabrizi, S. J., Langbehn, D. R., Leavitt, B. R., Roos, R. A., Durr, A., Craufurd, D., Kennard, C., Hicks, S. L., Fox, N. C., Scahill, R. I., et al. (2009) · The Lancet Neurology

Genetic Neurodegenerative DiseasesDeep Brain Stimulation and Movement Disorders

Cited by 984

Targeting Huntingtin Expression in Patients with Huntington’s Disease

Tabrizi, S. J., Leavitt, B. R., Landwehrmeyer, G. B., Wild, E. J., Saft, C., Barker, R. A., Blair, N. F., Craufurd, D., Priller, J., Rickards, H., et al. (2019) · New England Journal of Medicine

Genetic Neurodegenerative DiseasesLysosomal Storage Disorders Research

Cited by 708

PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death

Gandhi, S., Wood-Kaczmar, A., Yao, Z., Plun-Favreau, H., Deas, E., Klupsch, K., Downward, J., Latchman, D. S., Tabrizi, S. J., Wood, N. W., et al. (2009) · Molecular Cell

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 682

Microglial activation in presymptomatic Huntington's disease gene carriers

Tai, Y. F., Pavese, N., Gerhard, A., Tabrizi, S. J., Barker, R. A., Brooks, D. J., & Piccini, P. (2007) · Brain

Genetic Neurodegenerative DiseasesNeuroinflammation and Neurodegeneration Mechanisms

Cited by 440

Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis

Byrne, L. M., Rodrigues, F. B., Blennow, K., Durr, A., Leavitt, B. R., Roos, R. A. C., Scahill, R. I., Tabrizi, S. J., Zetterberg, H., Langbehn, D., et al. (2017) · The Lancet Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 364

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

PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons

Wood-Kaczmar, A., Gandhi, S., Yao, Z., Abramov, A. S. Y., Miljan, E. A., Keen, G., Stanyer, L., Hargreaves, I., Klupsch, K., Deas, E., et al. (2008) · PLoS ONE

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 316

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Bettencourt, C., Hensman‐Moss, D., Flower, M., Wiethoff, S., Brice, A., Goizet, C., Stevanin, G., Koutsis, G., Karadima, G., Panas, M., et al. (2016) · Annals of Neurology

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 227

Microglial activation in regions related to cognitive function predicts disease onset in Huntington's disease: a multimodal imaging study

Politis, M., Pavese, N., Tai, Y. F., Kiferle, L., Mason, S. L., Brooks, D. J., Tabrizi, S. J., Barker, R. A., & Piccini, P. (2011) · Human Brain Mapping

Genetic Neurodegenerative DiseasesNeurological diseases and metabolism

Cited by 212

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

Hensman Moss, D. J., Poulter, M., Beck, J., Hehir, J., Polke, J. M., Campbell, T., Adamson, G., Mudanohwo, E., McColgan, P., Haworth, A., et al. (2014) · Neurology

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 203

KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients

Quinti, L., Dayalan Naidu, S., Träger, U., Chen, X., Kegel-Gleason, K., Llères, D., Connolly, C., Chopra, V., Low, C., Moniot, S., et al. (2017) · Proceedings of the National Academy of Sciences

Genomics, phytochemicals, and oxidative stressGenetic Neurodegenerative Diseases

Cited by 140

Brain-Derived Neurotrophic Factor in Patients with Huntington's Disease

Zuccato, C., Marullo, M., Vitali, B., Tarditi, A., Mariotti, C., Valenza, M., Lahiri, N., Wild, E. J., Sassone, J., Ciammola, A., et al. (2011) · PLoS ONE

Genetic Neurodegenerative DiseasesNerve injury and regeneration

Cited by 138

Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's disease

Björkqvist, M., Petersén, Å., Bacos, K., Isaacs, J., Norlén, P., Gil, J., Popovic, N., Sundler, F., Bates, G. P., Tabrizi, S. J., et al. (2006) · Human Molecular Genetics

Genetic Neurodegenerative DiseasesStress Responses and Cortisol

Cited by 138

Huntington’s disease: Clinical presentation and treatment

Novak, M. J. U., & Tabrizi, S. J. (2011) · International Review of Neurobiology

Genetic Neurodegenerative DiseasesDeep Brain Stimulation and Movement Disorders

Cited by 137

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

REGISTRY Investigators of the European Huntington's Disease Network, Bečanović, K., Nørremølle, A., Neal, S. J., Kay, C., Collins, J. A., Arenillas, D., Lilja, T., Gaudenzi, G., Manoharan, S., et al. (2015) · Nature Neuroscience

Genetic Neurodegenerative DiseasesLysosomal Storage Disorders Research

Cited by 135

Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease

Munsie, L., Caron, N., Atwal, R. S., Marsden, I., Wild, E. J., Bamburg, J. R., Tabrizi, S. J., & Truant, R. (2011) · Human Molecular Genetics

Genetic Neurodegenerative DiseasesPrion Diseases and Protein Misfolding

Cited by 133

Huntington disease

Ghosh, R., & Tabrizi, S. J. (2018) · Handbook of Clinical Neurology

Genetic Neurodegenerative DiseasesNeurological diseases and metabolism

Cited by 122

Antisense oligonucleotides for neurodegeneration

Leavitt, B. R., & Tabrizi, S. J. (2020) · Science

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 96

In vivo characterization of white matter pathology in premanifest huntington's disease

Zhang, J., Gregory, S., Scahill, R. I., Durr, A., Thomas, D. L., Lehericy, S., Rees, G., Tabrizi, S. J., Zhang, H., & the TrackOn‐HD investigators (2018) · Annals of Neurology

Advanced Neuroimaging Techniques and ApplicationsGenetic Neurodegenerative Diseases

Cited by 80

Cerebrospinal fluid inflammatory biomarkers reflect clinical severity in Huntington's disease

Rodrigues, F. B., Byrne, L. M., McColgan, P., Robertson, N., Tabrizi, S. J., Zetterberg, H., & Wild, E. J. (2016) · PLOS ONE

Genetic Neurodegenerative DiseasesNeuroinflammation and Neurodegeneration Mechanisms

Cited by 79

Bone Marrow Transplantation Confers Modest Benefits in Mouse Models of Huntington's Disease

Kwan, W., Magnusson, A., Chou, A., Adame, A., Carson, M. J., Kohsaka, S., Masliah, E., Möller, T., Ransohoff, R., Tabrizi, S. J., et al. (2012) · The Journal of Neuroscience

Genetic Neurodegenerative DiseasesNeuroinflammation and Neurodegeneration Mechanisms

Cited by 75

Effects of IONIS-HTTRx in Patients with Early Huntington’s Disease, Results of the First HTT-Lowering Drug Trial (CT.002)

Tabrizi, S., Leavitt, B., Kordasiewicz, H., Czech, C., Swayze, E., Norris, D. A., Baumann, T., Gerlach, I., Schobel, S., Smith, A., et al. (2018) · Neurology

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 26