Results 41 to 50 of about 83,768 (184)

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y   +14 more
core   +1 more source

Huntington's like conditions in China, A review of published Chinese cases [PDF]

, 2012
Background: Knowledge about HD in China is lacking in the international literature. We have therefore analyzed the Chinese literature to thoroughly explore the clinical characteristics of Huntington disease in China.
Burgunder, Jean-Marc, Guo, Xiaoyan, Shang, Huifang, Zheng, Zhenzhen   +3 more
core   +2 more sources

Brain microvascular endothelial cell dysfunction in an isogenic juvenile iPSC model of Huntington’s disease

Fluids and Barriers of the CNS, 2022
Huntington’s disease (HD) is an inherited neurodegenerative disease caused by expansion of cytosine–adenine–guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss and decline in cognitive and motor function.
Raleigh M. Linville, Renée F. Nerenberg, Gabrielle Grifno, Diego Arevalo, Zhaobin Guo, Peter C. Searson   +5 more
doaj   +1 more source

Postnatal Foxp2 regulates early psychiatric-like phenotypes and associated molecular alterations in the R6/1 transgenic mouse model of Huntington's disease

Neurobiology of Disease, 2022
Huntington's Disease (HD) is a devastating disorder characterized by a triad of motor, psychiatric and cognitive manifestations. Psychiatric and emotional symptoms appear at early stages of the disease which are consistently described by patients and ...
Ened Rodríguez-Urgellés, Irene Rodríguez-Navarro, Iván Ballasch, Daniel del Toro, Ignacio del Castillo, Verónica Brito, Jordi Alberch, Albert Giralt   +7 more
doaj   +1 more source

Cortical and Striatal Circuits in Huntington's Disease

, 2020
Huntington's disease (HD) is a hereditary neurodegenerative disorder that typically manifests in midlife with motor, cognitive, and/or psychiatric symptoms.
Blumenstock, S., Dudanova, I.
core   +1 more source

Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review. [PDF]

, 2016
OBJECTIVES: The prevalence of Huntington's disease (HD) recorded in the UK primary care records has increased twofold between 1990 and 2010. This investigation was undertaken to assess whether this might be due to an increased incidence.
Collett, Laura, Douglas, Ian, Evans, Stephen J, Rawlins, Michael D, Smeeth, Liam, Tabrizi, Sarah J, Wexler, Alice R, Wexler, Nancy S   +7 more
core   +1 more source

Progression of motor subtypes in Huntington’s disease. a 6-year follow-up study [PDF]

, 2016
The objective of this study is to investigate the progression of predominantly choreatic and hypokinetic-rigid signs in Huntington's disease (HD) and their relationship with cognitive and general functioning over time.
Bentivoglio, A. R., Burgunder, J. M., Craufurd, D., Ferraldeschi, Michela, Hart, E. P., Jacobs, M, Reilmann, R., Ristori, Giovanni, Romano, Silvia, Roos, R. A. C., Saft, C., The REGISTRY, investigators of the European Huntington’s Disease Network, van Zwet, E. W.   +12 more
core   +2 more sources

Pluripotent stem cell-derived models of neurological diseases reveal early transcriptional heterogeneity

Genome Biology, 2021
Background Many neurodegenerative diseases develop only later in life, when cells in the nervous system lose their structure or function. In many forms of neurodegenerative diseases, this late-onset phenomenon remains largely unexplained.
Matan Sorek, Walaa Oweis, Malka Nissim-Rafinia, Moria Maman, Shahar Simon, Cynthia C. Hession, Xian Adiconis, Sean K. Simmons, Neville E. Sanjana, Xi Shi, Congyi Lu, Jen Q. Pan, Xiaohong Xu, Mahmoud A. Pouladi, Lisa M. Ellerby, Feng Zhang, Joshua Z. Levin, Eran Meshorer   +17 more
doaj   +1 more source

The ubiquitin-proteasome pathway in Huntington's disease. [PDF]

, 2008
The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Finkbeiner, Steven, Mitra, Siddhartha
core   +2 more sources

Sphingomyelin and GM1 Influence Huntingtin Binding to, Disruption of, and Aggregation on Lipid Membranes [PDF]

, 2018
Huntington disease (HD) is an inherited neurodegenerative disease caused by the expansion beyond a critical threshold of a polyglutamine (polyQ) tract near the N-terminus of the huntingtin (htt) protein. Expanded polyQ promotes the formation of a variety
Campbell, Warren A., Chaibva, Maxmore, Frey, Shelli L., Gao, Xiang, Jain, Pranav, Legleiter, Justin   +5 more
core   +4 more sources