Results 31 to 40 of about 83,768 (184)

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

Subcortical T1-Rho MRI Abnormalities in Juvenile-Onset Huntington’s Disease

Brain Sciences, 2020
Huntington’s disease (HD) is a fatal neurodegenerative disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene. An increased CAG repeat length is associated with an earlier disease onset.
Alexander V. Tereshchenko, Jordan L. Schultz, Ansley J. Kunnath, Joel E. Bruss, Eric A. Epping, Vincent A. Magnotta, Peg C. Nopoulos   +6 more
doaj   +1 more source

Juvenile Huntington’s disease in northern Brazil: a case series report

Revista de Ciências Médicas e Biológicas, 2022
Introduction: Huntington’s disease (HD) is a neurodegenerative disorder caused by CAG expansion repeats in the HTT gene. Usually, the symptoms start to manifest in mid-adulthood.
Diana Vieira Brito, Marcus Vinicius Della Coletta, Satiko Andrezza Takano, Giselle Benevides Monteiro Ferreira, C. Fantin   +4 more
semanticscholar   +1 more source

The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease

Brain Sciences, 2020
There is a known negative association between cytosine–adenine–guanine (CAG) repeat length and the age of motor onset (AMO) in adult-onset Huntington’s Disease (AOHD).
Jordan L. Schultz, Amelia D. Moser, Peg C. Nopoulos   +2 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence

Stem Cell Research, 2023
Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT).
Duncan C. Miller, Pawel Lisowski, Carolin Genehr, Erich E. Wanker, Josef Priller, Alessandro Prigione, Sebastian Diecke   +6 more
doaj   +1 more source

The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis

PLOS Currents, 2012
Juvenile Huntington’s disease (JHD) is usually defined as Huntington's disease with an onset ≤ 20 years. The proportion of JHD cases reported in studies of Huntington’s disease (HD) varies.
O. Quarrell, K. O'Donovan, O. Bandmann, M. Strong   +3 more
semanticscholar   +1 more source

Huntington's Disease

Pediatric 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

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

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

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