Functional compensation of motor function in pre-symptomatic Huntington's disease (2009)
Klöppel, Stefan, Draganski, Bogdan, Siebner, Hartwig R., Tabrizi, Sarah J., Weiller, Cornelius, Frackowiak, Richard S. J.
Involuntary choreiform movements are a clinical hallmark of Huntington's disease. Studies in clinically affected patients suggest a shift of motor activations to parietal cortices in response to...
Inflammatory Neuropathies (2008)
Alan Emery, Sarah Tabrizi, Mark Kristiansen, Michael Lunn, Primary Generalised, Sarah J Tabrizi, ...
Tonic-Clonic seizures Much of what makes Lamictal an appropriate choice for her… Male: 26 Primary Generalised Tonic-Clonic seizures …also makes it an appropriate choice for him
Klöppel, Stefan, Draganski, Bogdan, Golding, Charlotte V., Chu, Carlton, Nagy, Zoltan, Cook, Philip A., ...
Huntington's disease is caused by a known genetic mutation and so potentially can be diagnosed many years before the onset of symptoms. Neuropathological changes have been found in both striatum and...
Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease (2008)
Leoni, Valerio, Mariotti, Caterina, Tabrizi, Sarah J., Valenza, Marta, Wild, Edward J., Henley, Susie M. D., ...
Huntington's disease (HD) is a hereditary neurodegenerative disorder for which biological indicators of disease progression, or disease stage, would be especially important for therapeutic trials....
Hypothalamic involvement in Huntington's disease: an in vivo PET study (2008)
Politis, Marios, Pavese, Nicola, Tai, Yen F., Tabrizi, Sarah J., Barker, Roger A., Piccini, Paola
Recent studies have shown alterations in metabolism, sleep and circadian rhythms as well as in several neuropeptides derived from the hypothalamic–pituitary axis in Huntington's disease patients;...
Microglial activation in presymptomatic Huntington's disease gene carriers (2007)
Tai, Yen F., Pavese, Nicola, Gerhard, Alexander, Tabrizi, Sarah J., Barker, Roger A., Brooks, David J., ...
Microglial activation may play a role in the pathogenesis of Huntington's disease (HD). Using 11C-(R)-PK11195 (PK) positron emission tomography (PET), we investigated microglial activation in HD...
Zourlidou, Alexandra, Gidalevitz, Tali, Kristiansen, Mark, Landles, Christian, Woodman, Ben, Wells, Dominic J., ...
Huntington's disease (HD) is caused by an expanded polyglutamine tract in the huntingtin protein. Mitochondrial dysfunction and free radical damage occur in both R6/2 mice and HD patient brains and...
Zourlidou, Alexandra, Gidalevitz, Tali, Kristiansen, Mark, Landles, Christian, Woodman, Ben, Wells, Dominic J., ...
Huntington's disease (HD) is caused by an expanded polyglutamine tract in the huntingtin protein. Mitochondrial dysfunction and free radical damage occur in both R6/2 mice and HD patient brains and...
Björkqvist, Maria, Petersén, Åsa, Bacos, Karl, Isaacs, Jeremy, Norlén, Per, Gil, Joana, ...
Huntington's disease (HD) is characterised by a triad of motor, psychiatric, and cognitive symptoms. While many of these symptoms are likely to be related to central nervous system pathology, others...
Björkqvist, Maria, Petersén, Åsa, Bacos, Karl, Isaacs, Jeremy, Norlén, Per, Gil, Joana, ...
Huntington's disease (HD) is characterized by a triad of motor, psychiatric and cognitive symptoms. Although many of these symptoms are likely to be related to central nervous system pathology,...
Gene expression in Huntington's disease skeletal muscle: a potential biomarker (2005)
Strand, Andrew D., Aragaki, Aaron K., Shaw, Dennis, Bird, Thomas, Holton, Janice, Turner, Christopher, ...
Huntington's disease (HD) is an incurable and fatal neurodegenerative disorder. Improvements in the objective measurement of HD will lead to more efficient clinical trials and earlier therapeutic...
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease (2004)
Beck, Jonathan A, Poulter, Mark, Campbell, Tracy A, Uphill, James B, Adamson, Gary, Geddes, Jennian F, ...
Alzheimer's disease (AD) is the commonest neurodegenerative disease worldwide. Rare familial cases may be caused by mutations in one of three genes - amyloid precursor protein, presenilin 1 and...
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease (2004)
Beck, Jonathan A, Poulter, Mark, Campbell, Tracy A, Uphill, James B, Adamson, Gary, Geddes, Jennian F, ...
Alzheimer's disease (AD) is the commonest neurodegenerative disease worldwide. Rare familial cases may be caused by mutations in one of three genes - amyloid precursor protein, presenilin 1 and...
Expression of mutant {alpha}-synuclein causes increased susceptibility to dopamine toxicity (2000)
Tabrizi, Sarah J., Orth, Michael, Wilkinson, J. Max, Taanman, Jan-Willem, Warner, Thomas T., Cooper, J. Mark, ...
Mutations of the α-synuclein gene have been identified in autosomal dominant Parkinson’s disease (PD). Transgenic mice overexpressing wild-type human α-synuclein develop motor impairments,...
Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood
Runne, Heike, Kuhn, Alexandre, Wild, Edward J., Pratyaksha, Wirahpati, Kristiansen, Mark, Isaacs, Jeremy D., ...
Highly quantitative biomarkers of neurodegenerative disease remain an important need in the urgent quest for disease-modifying therapies. For Huntington's disease (HD), a genetic test is available...
PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons
Wood-Kaczmar, Alison, Gandhi, Sonia, Yao, Zhi, Abramov, Andrey S. Y., Miljan, Erik A., Keen, Gregory, ...
Parkinson's disease (PD) is a common age-related neurodegenerative disease and it is critical to develop models which recapitulate the pathogenic process including the effect of the ageing process....
Björkqvist, Maria, Wild, Edward J., Thiele, Jenny, Silvestroni, Aurelio, Andre, Ralph, Lahiri, Nayana, ...
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by both neurological and systemic abnormalities. We examined the peripheral immune system and found widespread...
Wood-Kaczmar, Alison, Gandhi, Sonia, Yao, Zhi, Abramov, Andrey Y., Miljan, Erik A., Keen, Gregory, ...
Wood-Kaczmar, Alison, Gandhi, Sonia, Yao, Zhi, Abramov, Andrey Y., Miljan, Erik A., Keen, Gregory, ...
Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study
Mead, Simon, Poulter, Mark, Uphill, James, Beck, John, Whitfield, Jerome, Webb, Thomas EF, ...
Functional compensation of motor function in pre-symptomatic Huntington's disease
Klöppel, Stefan, Draganski, Bogdan, Siebner, Hartwig R., Tabrizi, Sarah J., Weiller, Cornelius, Frackowiak, Richard S. J.
Involuntary choreiform movements are a clinical hallmark of Huntington's disease. Studies in clinically affected patients suggest a shift of motor activations to parietal cortices in response to...
Gandhi, Sonia, Wood-Kaczmar, Alison, Yao, Zhi, Plun-Favreau, Helene, Deas, Emma, Klupsch, Kristina, ...
Mutations in PINK1 cause autosomal recessive Parkinson's disease. PINK1 is a mitochondrial kinase of unknown function. We investigated calcium homeostasis and mitochondrial function in...