Results 111 to 120 of about 83,768 (184)

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington\u27s disease [PDF]

, 2015
Huntington\u27s disease (HD) is a neurodegenerative disorder, involving psychiatric, cognitive and motor symptoms, caused by a CAG-repeat expansion encoding an extended polyglutamine tract in the huntingtin protein.
Francis, P. S., Frazier, A. E., Gray, L. J., Hannan, A. J., McGee, S. L., Renoir, T., Smith, Z. M., Thorburn, D. R., Wright, D. J.   +8 more
core   +2 more sources

Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels

Neurobiology of Disease, 2016
Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk ...
Nesli Ece Sen, Jessica Drost, Suzana Gispert, Sylvia Torres-Odio, Ewa Damrath, Michael Klinkenberg, Hamid Hamzeiy, Gülden Akdal, Halil Güllüoğlu, A. Nazlı Başak, Georg Auburger   +10 more
doaj   +1 more source

Enfermedad de Huntington: estado del arte [PDF]

, 2014
La enfermedad de Huntington es un desorden monogenético autosómico dominante, que genera un trastorno neurodegenerativo caracterizado por la pérdida de neuronas en diferentes partes del cerebro.
Rodas Sepúlveda, Carlos Daniel, Sierra García, Natalia   +1 more
core  

Medical and lay attitudes towards genetic screening and testing in Finland [PDF]

, 2003
Udgivelsesdato: 2003-AugThe purpose of this study was to compare physicians', midwives' and lay people's attitudes towards genetic screening and testing to find out whether medical education and experience influence attitudes of genetic screening and ...
AF Patenaude, AR Aro, AR Aro, Arja R Aro, C Lerman, C Lerman, C Lerman, E Hemminki, E Hemminki, EK Watson, Elina Hemminki, H Chaliki, H Toiviainen, Hanna Toiviainen, J Bell, JA Skelton, Jill Turner, JL Benkendorf, JP Struewing, KR Smith, LC Friedman, M Hietala, M Hietala, M Hietala, P Aula, P Jallinoja, P Jallinoja, P Jallinoja, P Jallinoja, P Jallinoja, P Santalahti, Piia Jallinoja, R Miettinen, RT Croyle, S Michie   +34 more
core   +2 more sources

Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage [PDF]

, 2017
To test the hypotheses that mutant huntingtin protein length and wild-type huntingtin dosage have important effects on disease-related transcriptional dysfunction, we compared the changes in mRNA in seven genetic mouse models of Huntington's disease (HD)
Albin, Roger, Augood, Sarah J., Bates, Gillian P., Becanovic, Kristina, Cha, Jang-Ho J., Delorenzi, Mauro, Dunnett, Stephen B., Faull, Richard L.M., Ferrante, Robert J., Goldstein, Darlene R., Hannan, Anthony J., Hayden, Michael R., Hodges, Angela, Jones, Lesley, Kooperberg, Charles, Kuhn, Alexandre, Leavitt, Blair R., Luthi-Carter, Ruth, Olson, James M., Pouladi, Mahmoud A., Sathasivam, Kirupa, Sengstag, Thierry, Shelbourne, Peggy, Strand, Andrew D.   +23 more
core  

GluN3A promotes NMDA spiking by enhancing synaptic transmission in Huntington's disease models

Neurobiology of Disease, 2016
Age-inappropriate expression of juvenile NMDA receptors (NMDARs) containing GluN3A subunits has been linked to synapse loss and death of spiny projection neurons of the striatum (SPNs) in Huntington's disease (HD).
Kashif Mahfooz, Sonia Marco, Rebeca Martínez-Turrillas, Mathan K. Raja, Isabel Pérez-Otaño, John F. Wesseling   +5 more
doaj   +1 more source

Huntington's disease: a clinical review

Orphanet Journal of Rare Diseases, 2010
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Roos Raymund AC
doaj   +1 more source

Behavioral Genetics Research and Criminal DNA Databases [PDF]

, 2006
Kaye discusses DNA databanks and the potential use of such databanks for behavioral genetics research. He addresses the concern that DNA databanks serve as a limitless repository for future research and that the samples used in the databanks could be ...
Kaye, D. H.
core   +2 more sources

Patterns of Neural Activity and Clinical Outcomes in a Juvenile Huntington's Disease Patient Undergoing Deep Brain Stimulation of the Subthalamic Nucleus

Deep Brain Stimulation, 2023
A. Kaymak, M. Vissani, M. Lenge, F. Melani, Edoardo Fino, P. Cappelletto, G. Tuccinardi, M. Cavallo, Flavio Giordano, A. Mazzoni   +9 more
semanticscholar   +1 more source

Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To investigate the clinical features and dynamic mutation of 10 cases with juvenile-onset Huntington's disease (HD). Methods The cytosine-adenine-guanine (CAG) repeats of IT15 gene were detected by polymerase chain reaction (PCR) and capillary
Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Hui-zi MA, Wei-hong GU   +4 more
doaj