Results 101 to 110 of about 5,067,029 (185)

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

Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

, 2012
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples;
Quarrel O. W., Kline M., Ramos Arroyo M., Landwehrmeyer G. B., CAPELLARI, SABINA, Dumoulin C., European Huntington's Disease Network, Biunno I., CORTELLI, PIETRO, Bauer P., O'Donovan K., Handley O., GALLASSI, ROBERTO   +12 more
core   +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

Neuropathology in juvenile Huntington disease

Journal of Neuropathology and Experimental Neurology, 2007
Juvenile onset Huntington disease (HD) often has variant clinical and neuropathological features: Case 1 (CAG repeat length 140): Onset age 3 with so‐called cerebral palsy. By age 5 marked dysarthria, bradykinesia and extensor plantar responses.
openaire   +1 more source

Electrophysiological biomarkers in genetic movement disorders [PDF]

, 2008
BACKGROUND. Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of
Schneider, K.S.A.I.M
core  

Clinical and genetic study of a juvenile⁃onset Huntington disease

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Background Huntington's disease (HD) is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment.
Ying HAO, Yuan⁃yuan CHEN, Wei⁃hong GU, Guo⁃xiang WANG, Hui⁃zi MA, Li⁃lin LI, Kang WANG, Miao JIN, Xiao⁃hui DUAN   +8 more
doaj  

Preliminary observations of glucose metabolism dysregulation in pediatric Huntington’s disease

Frontiers in Neurology
BackgroundPediatric Huntington’s disease (PHD), a rare and severe form of juvenile-onset Huntington’s disease (JOHD), is associated with highly expanded CAG repeats in the HTT gene and a rapidly progressive neurodegenerative course.
Federica Graziola, Federica Rachele Danti, Martina Penzo, Antonio Spagarino, Eleonora Minacapilli, Marco Moscatelli, Federica Zibordi, Caterina Mariotti, Giovanna Zorzi, Giovanna Zorzi   +9 more
doaj   +1 more source

Survival, mortality, causes and places of death in a european huntington's disease prospective cohort

, 2017
Background Huntington's disease (HD) is a rare and fatal inherited genetic disorder characterized by progressive motor, cognitive, and behavioral impairment. It leads to premature death, but data regarding advanced‐stage disease are scarce. We sought to
Abreu, Daisy, Giovanni, Ristori, Rodrigues, Filipe Brogueira, Ferreira, Joaquim J., Coelho, Miguel, REGISTRY Investigators of the European Huntington's Disease Network, Michela, Ferraldeschi, Goncalves, Nilza, Correia-Guedes, Leonor, Damásio, Joana   +9 more
core   +1 more source

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

, 2013
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO),
ROMANO, SILVIA, Giorgini, Flaviano, Orth, Michael, Outeiro, Tiago F, Vittori, Angelica, Registry, investigators of the European Huntington’s Disease Network, Roos, Raymund A. C, Hollox, Edward J   +7 more
core   +1 more source

Other title: Parent Handbook; Other title: Parent Handbook, Kansas Juvenile Correctional Complex : Guide for Parents; Other title: Guide for Parents

, 2011
Revised January 2011; application/pdf"This handbook was designed to provide information to parents, visitors and other interested individuals about the Kansas Juvenile Correctional Complex and its operation."Introduction General Programming ...
Kansas Juvenile Correctional Complex.
core   +1 more source