Results 61 to 70 of about 80,831 (209)

The kabod Spring 2016 [PDF]

, 2016
Completed issue of article publications for Spring ...

core   +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

A Scoping Review of the Lived Experiences of Individuals With Huntington's Disease, Their Informal Caregivers and Offspring

Journal of Advanced Nursing, EarlyView.
ABSTRACT Background Huntington's disease has a disruptive effect on entire families. While previous reviews have examined lived experiences of individuals with Huntington's Disease, their informal caregivers, or their offspring, none have provided a comprehensive overview that integrates these three perspectives. Design A scoping review. Aims Providing
Cathelijn Van Baar, Kristel Kalkers, Sascha Bolt, Raymund Roos, Robbert Gobbens   +4 more
wiley   +1 more source

Investigating Harvest and Vessel Traffic Exposure as Drivers of Social Group Characteristics in Canadian Beluga (Delphinapterus leucas) Populations

Marine Mammal Science, EarlyView.
ABSTRACT Assessing variation in social behaviors of group‐living animals may provide insight into the impacts of population stressors. Using very high resolution (VHR) satellite imagery acquired over 3 years, we compared social group size and composition, as well as spatial and social cohesion in three beluga (Delphinapterus leucas) populations that ...
Jordan B. Stewart, John Iacozza, Lisa Loseto, Cortney A. Watt   +3 more
wiley   +1 more source

Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington’s disease patient cells

Molecular Brain, 2012
Background Huntington’s Disease (HD) is a devastating neurodegenerative disorder that clinically manifests as motor dysfunction, cognitive impairment and psychiatric symptoms. There is currently no cure for this progressive and fatal disorder.
Juopperi Tarja A, Kim Woon, Chiang Cheng-Hsuan, Yu Huimei, Margolis Russell L, Ross Christopher A, Ming Guo-li, Song Hongjun   +7 more
doaj   +1 more source

Psychogenic non-epileptic seizures in early Huntington's disease [PDF]

, 2016
Huntington's disease (HD) is a neurodegenerative condition characterised by motor dysfunction with involuntary movements and loss of voluntary control, cognitive deterioration and psychiatric problems.
Rodrigues, FB, Wild, EJ
core   +1 more source

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld, Sandra Sirrs, Daphne H. Schoenmakers, Timothy Fazio, Melanie M. van der Klauw, Francois Maillot, Reena Sharma, Christel Tran, Athanasia Ziagaki, Fanny Mochel   +9 more
wiley   +1 more source

Childhood-onset (Juvenile) Huntington's disease: A rare case report

Journal of Pediatric Neurosciences, 2015
Huntington′s disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia.
K. Patra, M. Shirolkar
semanticscholar   +1 more source

IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome [PDF]

, 2009
Expansion of the polyglutamine repeat within the protein Huntingtin (Htt) causes Huntington's disease, a neurodegenerative disease associated with aging and the accumulation of mutant Htt in diseased neurons.
Aiken, Ali Khoshnan, Alice L. Lau, Ana Maria Cuervo, Anne, Apostol, Arrasate, Arrasate, Ashish Massey, Atwal, Atwal, Björkqvist, Brown, Charity T. Aiken, Chen, Chondrogianni, Cornett, Cuervo, Cuervo, Cuervo, D'Orazi, Dan, Donald C. Lo, Fang, Finkbeiner, Frank M. LaFerla, Gillian Bates, Graham, Grossman, Gu, Guerrero, Gutekunst, Hasan Khashwji, Henn, Hernandez-Hernandez, Hietakangas, Hofmann, Hu, Huang, Humbert, Hunter, J. Lawrence Marsh, Jacqueline Gire O'Rourke, Jeong, Jiang, Joan S. Steffan, Karin, Karin, Katalin Illes, Kaushik, Kazantsev, Khoshnan, Khoshnan, Kim N. Green, Komatsu, Lan Huang, Leslie Michels Thompson, Linda S. Kaltenbach, Liu, Lo, Luo, Mangiarini, Marta Martinez-Vincente, Martinez-Vicente, Massey, Massey, Michael R. Hayden, Michels, Mizushima, Montserrat Arrasate, Namita Agrawal, Orr, Paul H. Patterson, Peters-Libeu, Rockabrand, Saudou, Schilling, Scott O. Zeitlin, Shao, Southwell, Steffan, Steffan, Steffan, Steven Finkbeiner, Tagwerker, Tamas Lukacsovich, Tonoki, Verma, Walker, Warby, Warby, Warby, Wu, Xia, Ya-Zhen Zhu, Yanai, Zhang, Zuccato   +97 more
core   +3 more sources

An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub‐Saharan Africa

Annals of Human Genetics, Volume 89, Issue 4, Page 149-157, July 2025.
Abstract Background Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South‐Africa specific to indigenous Africans.
Mendi J Muthinja, Carlos Othon Guelngar, Maouly Fall, Fatumah Jama, Huda Aldeen Shuja, Jamila Nambafu, Daniel Gams Massi, Oluwadamilola O. Ojo, Njideka U. Okubadejo, Funmilola Tolulope Taiwo, Alassane Mamadou Diop, Coudjou J. D. G. de Chacus, Fodé Abass Cissé, Amara Cissé, Juzar Hooker, Dilraj Sokhi, Henry Houlden, Mie Rizig   +17 more
wiley   +1 more source