Search Results - "Leavitt, Blair R."
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Iron dysregulation in Huntington's disease
Published in Journal of neurochemistry (01-08-2014)“…Huntington's disease (HD) is one of many neurodegenerative diseases with reported alterations in brain iron homeostasis that may contribute to…”
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Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis
Published in Lancet neurology (01-08-2017)“…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
Published in Lancet neurology (01-07-2013)“…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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Huntington disease: natural history, biomarkers and prospects for therapeutics
Published in Nature reviews. Neurology (01-04-2014)“…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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Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis
Published in Lancet neurology (2011)“…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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Development of biomarkers for Huntington's disease
Published in Lancet neurology (01-06-2011)“…Summary Huntington's disease is an autosomal dominant, progressive neurodegenerative disorder, for which there is no disease-modifying treatment. By use of…”
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Spontaneous, solvent-free entrapment of siRNA within lipid nanoparticles
Published in Nanoscale (21-12-2020)“…Lipid nanoparticle (LNP) formulations of nucleic acid are leading vaccine candidates for COVID-19, and enabled the first approved RNAi therapeutic, Onpattro…”
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Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data
Published in Lancet neurology (01-09-2009)“…Summary Background Huntington's disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects adults in…”
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Intracerebroventricular Administration of AAV9-PHP.B SYN1-EmGFP Induces Widespread Transgene Expression in the Mouse and Monkey Central Nervous System
Published in Human gene therapy (01-06-2021)“…Viral vectors made from adeno-associated virus (AAV) have emerged as preferred tools in basic and translational neuroscience research to introduce or modify…”
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10
The Clinical and Genetic Features of Huntington Disease
Published in Journal of geriatric psychiatry and neurology (01-12-2010)“…Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive…”
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FTD-associated behavioural and transcriptomic abnormalities in ‘humanized’ progranulin-deficient mice: A novel model for progranulin-associated FTD
Published in Neurobiology of disease (15-06-2023)“…Frontotemporal dementia (FTD) is an early onset dementia characterized by neuropathology and behavioural changes. A common genetic cause of FTD is…”
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Potential biomarkers to follow the progression and treatment response of Huntington's disease
Published in The Journal of experimental medicine (14-11-2016)“…Huntington's disease (HD) is a rare genetic disease caused by expanded polyglutamine repeats in the huntingtin protein resulting in selective neuronal loss…”
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Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice
Published in Neurobiology of disease (01-10-2017)“…Abstract Progranulin deficiency due to heterozygous null mutations in the GRN gene is a common cause of familial frontotemporal lobar degeneration (FTLD),…”
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A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease
Published in The Journal of experimental medicine (04-08-2008)“…Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by both neurological and systemic abnormalities. We examined the peripheral…”
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Operationalizing compensation over time in neurodegenerative disease
Published in Brain (London, England : 1878) (01-04-2017)“…In pre-clinical Huntington's disease, normal behaviour is maintained despite neurodegeneration, suggesting a mechanism of compensation. Gregory, Long et al …”
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Brain Regions Showing White Matter Loss in Huntington’s Disease Are Enriched for Synaptic and Metabolic Genes
Published in Biological psychiatry (1969) (01-03-2018)“…The earliest white matter changes in Huntington’s disease are seen before disease onset in the premanifest stage around the striatum, within the corpus…”
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A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
Published in EBioMedicine (01-10-2019)“…Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes…”
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Human progranulin-expressing mice as a novel tool for the development of progranulin-modulating therapeutics
Published in Neurobiology of disease (01-06-2021)“…The granulin protein (also known as, and hereafter referred to as, progranulin) is a secreted glycoprotein that contributes to overall brain health…”
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Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation
Published in Journal of neuroinflammation (17-11-2017)“…Progranulin deficiency due to heterozygous null mutations in the GRN gene are a common cause of familial frontotemporal lobar degeneration (FTLD), while…”
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Synaptic dysfunction in progranulin-deficient mice
Published in Neurobiology of disease (01-02-2012)“…Abstract Progranulin haploinsufficiency is a common cause of familial frontotemporal dementia (FTD), but the role of progranulin in the brain is poorly…”
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