Results 61 to 70 of about 10,466,444 (219)

Huntingtin Lowering Strategies for Disease Modification in Huntington's Disease.

open access: yesNeuron, 2019
Huntington's disease is caused by an abnormally expanded CAG repeat expansion in the HTT gene, which confers a predominant toxic gain of function in the mutant huntingtin (mHTT) protein.
S. Tabrizi, R. Ghosh, B. Leavitt
semanticscholar   +1 more source

Monkey hybrid stem cells develop cellular features of Huntington's disease

open access: yesBMC Cell Biology, 2010
Background Pluripotent stem cells that are capable of differentiating into different cell types and develop robust hallmark cellular features are useful tools for clarifying the impact of developmental events on neurodegenerative diseases such as ...
Lorthongpanich Chanchao   +9 more
doaj   +1 more source

Juvenile Huntington’s disease: two case reports and a review of the literature

open access: yesJournal of Medical Case Reports, 2020
Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest ...
Sigita Lesinskienė   +5 more
doaj   +1 more source

Additional file 1 of Identify Huntingtonâ s disease associated genes based on restricted Boltzmann machine with RNA-seq data

open access: yes, 2017
Supplementary Material. The detail derivation process for solving the gradients of RBMs learning is given in the Supplementary Material. (PDF 321 kb)
Jiang, Xue   +3 more
openaire   +1 more source

PromOTing Quality of Life for Individuals with Huntington’s Disease [PDF]

open access: yes, 2015
Objectives of Presentation: Describe the symptoms of Huntington’s disease and their impact on functional performance. Recognize the role of occupational therapy in improving quality of life for individuals with Huntington’s disease.
Gentile, OTS, Lyndsay   +4 more
core   +1 more source

Integrated genomics and proteomics define huntingtin CAG length-dependent networks in mice. [PDF]

open access: yes, 2016
To gain insight into how mutant huntingtin (mHtt) CAG repeat length modifies Huntington's disease (HD) pathogenesis, we profiled mRNA in over 600 brain and peripheral tissue samples from HD knock-in mice with increasing CAG repeat lengths.
A Dobin   +94 more
core   +1 more source

Therapies targeting DNA and RNA in Huntington's disease

open access: yesLancet Neurology, 2017
Summary No disease-slowing treatments exist for Huntington’s disease (HD), but its monogenic inheritance makes it an appealing candidate for the development of therapeutics targeting pathogenic processes close to its root genetic cause.
E. Wild, S. Tabrizi
semanticscholar   +1 more source

Cholinergic deficits selectively boost cortical intratelencephalic control of striatum in male Huntington’s disease model mice

open access: yesNature Communications, 2023
The corticostriatal dysfunction underlying Huntington’s disease remains incompletely understood. Here, the authors find increased intratelencephalic connectivity resulting from deficient cholinergic transmission in a mouse model of Huntington’s disease.
Tristano Pancani   +9 more
doaj   +1 more source

Huntington's Disease

open access: yesPediatric Neurology Briefs, 1989
The positron-emission tomography (PET) findings in a seven year old girl with the juvenile form of Huntington's disease are described from the Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal, Canada.
J Gordon Millichap
doaj   +1 more source

Additional file 6: Figure S2. of Similar striatal gene expression profiles in the striatum of the YAC128 and HdhQ150 mouse models of Huntingtonâ s disease are not reflected in mutant Huntingtin inclusion prevalence

open access: yes, 2015
Analysis of the overlap of changes in gene expression in the YAC128 striatum at A. 6 months of age B. 12 months of age and C. 18 months of age compared with other HD model mouse striata and human brain. Frequency represents the fraction of the top 200 HdhQ150 expression changes that map to a particular bin of ranked data (1000 genes per bin) in the ...
Zubeyde Bayram-Weston   +9 more
openaire   +1 more source

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