Results 21 to 30 of about 6,618 (141)

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe [PDF]

, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Aad Tibben, Bernhard Landwehrmeyer, C Dancyger, CE Levers, Christine Eiser, EA Earle, EA Earle, ET Gendlin, Ferdinando Squitieri, G Bruyn, G Nicolas, G Ronen, Helen Santini, HM Brewer, HM Brewer, HM Brewer, HM Brewer, I Epstein, JA Smith, JA Smith, JA Smith, Jonathan A Smith, Katie Lee Weille, M Dixon-Woods, M Orth, M Rawlins, MA Nance, Maria Rakowicz, Marie-Louise Goller, Martina Petrollini, Matteo Paduanello, MJ Novak, O Quarrell, Oliver Quarrell, P Lagerlove, P Ribbai, PJ Morrison, RA Barker, S Michie, T Hoppitt, Virginia Eatough, Wioletta Krysa, ‘Annunziata’ de Nicola   +42 more
core   +1 more source

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

Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells. [PDF]

PLoS ONE, 2016
Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD). HTT modulates mitotic spindle orientation and cell fate in mouse cortical progenitors from the ventricular zone.
Carla Lopes, Sophie Aubert, Fany Bourgois-Rocha, Monia Barnat, Ana Cristina Rego, Nicole Déglon, Anselme L Perrier, Sandrine Humbert   +7 more
doaj   +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

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease

BMC Neurology, 2021
Background Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring ...
Katalin Despotov, Dénes Zádori, Gábor Veres, Katalin Jakab, Gabriella Gárdián, Eszter Tóth, Tamás Zsigmond Kincses, László Vécsei, András Ajtay, Dániel Bereczki, Péter Klivényi   +10 more
doaj   +1 more source

Generation of two human iPSC lines from dermal fibroblasts of adult- and juvenile-onset Huntington's disease patients and two healthy donors

Stem Cell Research, 2023
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a mutation in the HTT gene. To generate human-induced pluripotent stem cells (hiPSCs), we used dermal fibroblasts from 1 healthy adult control (K-Pic2), 1 HD manifest ...
Marta Piechota, Ewelina Latoszek, Ewa Liszewska, Hana Hansíková, Jiří Klempíř, Alžbeta Mühlbäck, Georg Bernhard Landwehrmeyer, Jacek Kuźnicki, Magdalena Czeredys   +8 more
doaj   +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

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease

Stem Cell Research, 2018
Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical ...
Giovannina Rotundo, Eris Bidollari, Daniela Ferrari, Iolanda Spasari, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Simone Migliore, Ferdinando Squitieri, Angelo Luigi Vescovi, Jessica Rosati   +12 more
doaj   +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

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