Search Results - "Tabrizi, Sarah J."

Huntington's disease: from molecular pathogenesis to clinical treatment by Ross, Christopher A, Dr, Tabrizi, Sarah J, FRCP

“…Summary Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an…”
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The ubiquitin-proteasome system in neurodegeneration by McKinnon, Chris, Tabrizi, Sarah J

“…Impairment of the ubiquitin-proteasome system (UPS) has been implicated in the pathogenesis of a wide variety of neurodegenerative disorders, including…”
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DNA repair in the trinucleotide repeat disorders by Jones, Lesley, Prof, Houlden, Henry, Prof, Tabrizi, Sarah J, Prof

“…Summary Background Inherited diseases caused by unstable repeated DNA sequences are rare, but together represent a substantial cause of morbidity…”
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Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis by Byrne, Lauren M, MRes, Rodrigues, Filipe B, MD, Blennow, Kaj, Prof, Durr, Alexandra, Prof, Leavitt, Blair R, Prof, Roos, Raymund A C, Prof, Scahill, Rachael I, PhD, Tabrizi, Sarah J, Prof, Zetterberg, Henrik, Prof, Langbehn, Douglas, Prof, Wild, Edward J, Dr

“…Summary Background Blood biomarkers of neuronal damage could facilitate clinical management of and therapeutic development for Huntington's disease. We…”
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Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data by Tabrizi, Sarah J, Prof, Scahill, Rachael I, PhD, Owen, Gail, PhD, Durr, Alexandra, MD, Leavitt, Blair R, MDCM, Roos, Raymund A, Prof, Borowsky, Beth, PhD, Landwehrmeyer, Bernhard, Prof, Frost, Chris, Prof, Johnson, Hans, PhD, Craufurd, David, MD, Reilmann, Ralf, MD, Stout, Julie C, Prof, Langbehn, Douglas R, Prof

“…Summary Background TRACK-HD is a multinational prospective observational study of Huntington's disease (HD) that examines clinical and biological findings of…”
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Treating the whole body in Huntington's disease by Carroll, Jeffrey B, Dr, Bates, Gillian P, PhD, Steffan, Joan, PhD, Saft, Carsten, Prof, Tabrizi, Sarah J, Prof

“…Summary Huntington's disease is a genetic neurodegenerative disorder with symptoms that are linked to the progressive dysfunction and neuronal death in…”
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The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients by Neueder, Andreas, Landles, Christian, Ghosh, Rhia, Howland, David, Myers, Richard H., Faull, Richard L. M., Tabrizi, Sarah J., Bates, Gillian P.

“…We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (…”
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Huntington disease: natural history, biomarkers and prospects for therapeutics by Ross, Christopher A., Aylward, Elizabeth H., Wild, Edward J., Langbehn, Douglas R., Long, Jeffrey D., Warner, John H., Scahill, Rachael I., Leavitt, Blair R., Stout, Julie C., Paulsen, Jane S., Reilmann, Ralf, Unschuld, Paul G., Wexler, Alice, Margolis, Russell L., Tabrizi, Sarah J.

“…Key Points No disease-modifying treatments are currently available for Huntington disease (HD), but clinical trials of potential compounds are imminent;…”
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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force by Marras, Connie, Lang, Anthony, van de Warrenburg, Bart P., Sue, Carolyn M., Tabrizi, Sarah J., Bertram, Lars, Mercimek-Mahmutoglu, Saadet, Ebrahimi-Fakhari, Darius, Warner, Thomas T., Durr, Alexandra, Assmann, Birgit, Lohmann, Katja, Kostic, Vladimir, Klein, Christine

“…ABSTRACT The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used…”
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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 by Beck, Jon, Poulter, Mark, Hensman, Davina, Rohrer, Jonathan D., Mahoney, Colin J., Adamson, Gary, Campbell, Tracy, Uphill, James, Borg, Aaron, Fratta, Pietro, Orrell, Richard W., Malaspina, Andrea, Rowe, James, Brown, Jeremy, Hodges, John, Sidle, Katie, Polke, James M., Houlden, Henry, Schott, Jonathan M., Fox, Nick C., Rossor, Martin N., Tabrizi, Sarah J., Isaacs, Adrian M., Hardy, John, Warren, Jason D., Collinge, John, Mead, Simon

“…Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS)…”
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Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis by Tabrizi, Sarah J, Prof, Scahill, Rachael I, PhD, Durr, Alexandra, MD, Roos, Raymund AC, MD, Leavitt, Blair R, FRCPC, Jones, Rebecca, MSc, Landwehrmeyer, G Bernhard, MD, Fox, Nick C, MD, Johnson, Hans, PhD, Hicks, Stephen L, PhD, Kennard, Christopher, FRCP, Craufurd, David, FRCPsych, Frost, Chris, PhD, Langbehn, Douglas R, MD, Reilmann, Ralf, MD, Stout, Julie C, PhD

“…Summary Background TRACK-HD is a prospective observational study of Huntington's disease (HD) that examines disease progression in premanifest individuals…”
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Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers by Politis, Marios, Lahiri, Nayana, Niccolini, Flavia, Su, Paul, Wu, Kit, Giannetti, Paolo, Scahill, Rachael I, Turkheimer, Federico E, Tabrizi, Sarah J, Piccini, Paola

“…Abstract Previous studies have shown activation of the immune system and altered immune response in Huntington's disease (HD) gene carriers. Here, we…”
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Gene suppression approaches to neurodegeneration by Ghosh, Rhia, Tabrizi, Sarah J

“…Gene suppression approaches have emerged over the last 20 years as a novel therapeutic approach for the treatment of neurodegenerative diseases. These include…”
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DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases by Bettencourt, Conceição, Hensman-Moss, Davina, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas-Gómez, Petra, García-Velázquez, Lizbeth Esmeralda, Alonso-Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah J., Jones, Lesley

“…Objective The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary…”
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In vivo characterization of white matter pathology in premanifest huntington's disease by Zhang, Jiaying, Gregory, Sarah, Scahill, Rachael I., Durr, Alexandra, Thomas, David L., Lehericy, Stéphane, Rees, Geraint, Tabrizi, Sarah J., Zhang, Hui

“…Objective Huntington's disease (HD) is a monogenic, fully penetrant neurodegenerative disorder, providing an ideal model for understanding brain changes…”
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PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-Induced Cell Death by Gandhi, Sonia, Wood-Kaczmar, Alison, Yao, Zhi, Plun-Favreau, Helene, Deas, Emma, Klupsch, Kristina, Downward, Julian, Latchman, David S., Tabrizi, Sarah J., Wood, Nicholas W., Duchen, Michael R., Abramov, Andrey Y.

“…Mutations in PINK1 cause autosomal recessive Parkinson's disease. PINK1 is a mitochondrial kinase of unknown function. We investigated calcium homeostasis and…”
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Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data by Tabrizi, Sarah J, Prof, Reilmann, Ralf, MD, Roos, Raymund AC, MD, Durr, Alexandra, MD, Leavitt, Blair, FRCP, Owen, Gail, PhD, Jones, Rebecca, MSc, Johnson, Hans, PhD, Craufurd, David, FRCPsych, Hicks, Stephen L, PhD, Kennard, Christopher, FRCP, Landwehrmeyer, Bernhard, MD, Stout, Julie C, PhD, Borowsky, Beth, PhD, Scahill, Rachael I, PhD, Frost, Chris, MA, Langbehn, Douglas R, PhD

“…Summary Background TRACK-HD is a prospective observational biomarker study in premanifest and early Huntington's disease (HD). In this report we define a…”
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Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data by Tabrizi, Sarah J, Langbehn, Douglas R, Leavitt, Blair R, Roos, Raymund AC, Durr, Alexandra, Craufurd, David, Kennard, Christopher, Hicks, Stephen L, Fox, Nick C, Scahill, Rachael I, Borowsky, Beth, Tobin, Allan J, Rosas, H Diana, Johnson, Hans, Reilmann, Ralf, Landwehrmeyer, Bernhard, Stout, Julie C

“…Summary Background Huntington's disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects adults in…”
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Fronto-striatal circuits for cognitive flexibility in far from onset Huntington’s disease: evidence from the Young Adult Study by Langley, Christelle, Gregory, Sarah, Osborne-Crowley, Katie, O'Callaghan, Claire, Zeun, Paul, Lowe, Jessica, Johnson, Eileanoir B, Papoutsi, Marina, Scahill, Rachael I, Rees, Geraint, Tabrizi, Sarah J, Robbins, Trevor W, Sahakian, Barbara Jacquelyn

“…ObjectivesCognitive flexibility, which is key for adaptive decision-making, engages prefrontal cortex (PFC)-striatal circuitry and is impaired in both manifest…”
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Cerebrospinal Fluid Inflammatory Biomarkers Reflect Clinical Severity in Huntington's Disease by Rodrigues, Filipe Brogueira, Byrne, Lauren M, McColgan, Peter, Robertson, Nicola, Tabrizi, Sarah J, Zetterberg, Henrik, Wild, Edward J

“…Immune system activation is involved in Huntington's disease (HD) pathogenesis and biomarkers for this process could be relevant to study the disease and…”
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