Results 51 to 60 of about 91,965 (229)

Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]

Journal of Movement Disorders, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh, Eun-Seon Park, Seong-Min Choi, Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho   +5 more
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

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

, 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, A Hodges, A Kuhn, A Pal, A Reiner, A Valencia, Andreas Tebbe, B Zhang, B Zhang, BM Bolstad, C Zuccato, CA Ross, Christoph Schaab, Daniel J Lavery, David Howland, DI Shirasaki, Doxa Chatzopoulou, DV Zaykin, EH Aylward, Eliana Marisa Ramos, ES Deneris, ES Lein, Fuying Gao, G Fishell, GA Smith, Giovanni Coppola, HT Orr, I Al-Ramahi, IS Seong, Ismael Al-Ramahi, J Cox, J Cox, J Labbadia, JA Miller, JC Jacobsen, JE Phillips, Jeffrey P Cantle, Jeffrey S Aaronson, JF Gusella, JF Gusella, Jim Rosinski, JM Dowen, JM Van Raamsdonk, JP Vonsattel, Juan Botas, K Becanovic, K Monahan, K Sharma, Karla El-Zein, LB Menalled, LB Menalled, LB Menalled, LS Kaltenbach, M Biagioli, M Heiman, M MACDONALD, M Mann, M Mielcarek, MA Pouladi, MC Oldham, MI Love, MK Lobo, MT Lin, N Wang, Nan Wang, P Giles, P Grange, P Langfelder, P Langfelder, P Langfelder, P Langfelder, P Langfelder, Peter Langfelder, PF Durrenberger, RC Gentleman, S Anders, S Horvath, S Toyoda, Sandeep Deverasetty, Seung Kwak, Steve Horvath, T Geiger, T Lu, WE Johnson, WV Chen, X Gu, X Gu, X William Yang, XH Lu, Xiao-Hong Lu, Y Benjamini, Y Guo, Y Shen, Y Wang, Yining Zhao   +94 more
core   +1 more source

A two years longitudinal study of a transgenic Huntington disease monkey [PDF]

, 2014
BACKGROUND: A two-year longitudinal study composed of morphometric MRI measures and cognitive behavioral evaluation was performed on a transgenic Huntington’s disease (HD) monkey.
Adam Neumann, Anthony WS Chan, Chunxia Li, Claudia M Testa, Dongming Zhao, Francois Villinger, Haiying Cheng, Heather Banta, Heidi Engelhardt, Hui Mao, Jannet Kocerha, Jie Jiang, Jinjing Yang, Jocelyne Bachevalier, Katherine Larkin, Katie Nelson, Sean Moran, Stuart M Zola, Tayeb Rahim, Tim Chi, Xiaodong Zhang, Yan Xu   +21 more
core   +1 more source

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

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

EEG characteristics in juvenile Huntington's disease: a case report and review of the literature [PDF]

Epileptic disorders, 2003
The clinical features of Juvenile Huntington's Disease (J-HD) differ from those of the more common adult-onset form, and include cognitive decline, parkinsonism, myoclonus and seizures.
Mark E. Landau, Kevin R. Cannard
openalex   +2 more sources

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

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