User profiles for S.J. Tabrizi

Sarah J Tabrizi

Professor of Neurology UCL
Verified email at prion.ucl.ac.uk
Cited by 38958

Huntington's disease: from molecular pathogenesis to clinical treatment

CA Ross, SJ Tabrizi - The Lancet Neurology, 2011 - thelancet.com
Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an
expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine …

Huntington disease

…, RI Scahill, R Wetzel, EJ Wild, SJ Tabrizi - Nature reviews Disease …, 2015 - nature.com
Huntington disease is devastating to patients and their families—with autosomal dominant
inheritance, onset typically in the prime of adult life, progressive course, and a combination of …

Huntington's disease: a clinical review

P McColgan, SJ Tabrizi - European journal of neurology, 2018 - Wiley Online Library
Huntington's disease ( HD ) is a fully penetrant neurodegenerative disease caused by a
dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome …

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

SJ Tabrizi, DR Langbehn, BR Leavitt… - The Lancet …, 2009 - thelancet.com
Background Huntington's disease (HD) is an autosomal dominant, fully penetrant,
neurodegenerative disease that most commonly affects adults in mid-life. Our aim was to identify …

Huntington disease: natural history, biomarkers and prospects for therapeutics

…, A Wexler, RL Margolis, SJ Tabrizi - Nature Reviews …, 2014 - nature.com
Huntington disease (HD) can be seen as a model neurodegenerative disorder, in that it is
caused by a single genetic mutation and is amenable to predictive genetic testing, with …

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month …

SJ Tabrizi, RI Scahill, G Owen, A Durr… - The Lancet …, 2013 - thelancet.com
Background TRACK-HD is a multinational prospective observational study of Huntington's
disease (HD) that examines clinical and biological findings of disease progression in …

Proteome-based plasma biomarkers for Alzheimer's disease

…, J Campbell, HL Byers, C Hooper, F Rijsdijk, SJ Tabrizi… - Brain, 2006 - academic.oup.com
Alzheimer's disease is a common and devastating disease for which there is no readily
available biomarker to aid diagnosis or to monitor disease progression. Biomarkers have been …

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

…, K Klupsch, J Downward, DS Latchman, SJ Tabrizi… - Molecular cell, 2009 - cell.com
Mutations in PINK1 cause autosomal recessive Parkinson's disease. PINK1 is a mitochondrial
kinase of unknown function. We investigated calcium homeostasis and mitochondrial …

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

…, GP Bates, BR Leavitt, T Möller, SJ Tabrizi - The Journal of …, 2008 - rupress.org
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by both
neurological and systemic abnormalities. We examined the peripheral immune system and …

Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis

SJ Tabrizi, RI Scahill, A Durr, RAC Roos… - The Lancet …, 2011 - thelancet.com
Background TRACK-HD is a prospective observational study of Huntington's disease (HD)
that examines disease progression in premanifest individuals carrying the mutant HTT gene …