User profiles for S.J. Tabrizi
Sarah J TabriziProfessor 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 …
expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine …
Huntington disease
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 …
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 …
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 …
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 …
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 …
disease (HD) that examines clinical and biological findings of disease progression in …
Proteome-based plasma biomarkers for Alzheimer's disease
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 …
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 …
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
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by both
neurological and systemic abnormalities. We examined the peripheral immune system and …
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 …
that examines disease progression in premanifest individuals carrying the mutant HTT gene …