Results 81 to 90 of about 5,645,275 (159)

Psychosocial Impacts of Huntington's Disease on Individuals, Relatives and Family Systems: A Thematic Synthesis

Clinical Genetics, Volume 109, Issue 3, Page 403-415, March 2026.
The psychosocial impacts of Huntington's disease include disintegration with society, emotional and psychological burdens, an interplay of extrinsic stressors and recalibration of the family system. This thematic synthesis highlights the need for holistic, systemic support to address these pervasive challenges for all members of the affected family ...
Paige Lindo, Tierney Tindall, Suzanne Buswell, Selina Lock, Sarah Gunn   +4 more
wiley   +1 more source

Metallothioneins and copper metabolism are candidate therapeutic targets in Huntington’s disease [PDF]

, 2010
HD (Huntington's disease) is caused by a polyQ (polyglutamine) expansion in the huntingtin protein, which leads to protein misfolding and aggregation of this protein. Abnormal copper accumulation in the HD brain was first reported more than 15 years ago.
Giorgini, Flaviano, Flaviano Giorgini (58325), Robert Mason (3269031), Sajjad, MU, Hands, Sarah L., M. Umar Sajjad, Wyttenbach, Andreas, Robert Mason, Wyttenbach, A, Mason, Robert, Andreas Wyttenbach, Andreas Wyttenbach (7595339), Umar Sajjad, M., Sarah L. Hands, M. Umar Sajjad (7595336), Sarah L. Hands (7595333), Flaviano Giorgini, Hands, SL, Mason, R; id_orcid   +18 more
core   +1 more source

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  

Mutant huntingtin impairs the post-Golgi trafficking of brain-derived neurotrophic factor but not its Val66Met polymorphism. [PDF]

, 2013
Brain-derived neurotrophic factor (BDNF) polymorphism is associated with the pathophysiology of several neurodegenerative disorders, including Huntington"s disease.
Toro Ruiz, Daniel del, Egea Guri, Gustavo, Ginés Padrós, Silvia, Kojima, Masami, Canals i Coll, Josep M., Alberch i Vié, Jordi, 1959-   +5 more
core   +1 more source

Association of the IL-10 gene family locus on chromosome 1 with juvenile idiopathic arthritis (JIA) [PDF]

, 2012
The cytokine IL-10 and its family members have been implicated in autoimmune diseases and we have previously reported that genetic variants in IL-10 were associated with a rare group of diseases called juvenile idiopathic arthritis (JIA). The aim of this
Bryant, A., Ursu, S., Ursu Simona, Hinks, A, Forabosco, P, Omoyinmi, E, Ebun Omoyinmi, Hamaoui, Raja, Hinks, A., Woo, P., Ebun Omoyinmi (125984), Simona Ursu (125994), Forabosco, Paola, Wendy Thomson (68038), Lewis Cathryn M., Childhood Arthritis Response to Medication Study (CHARMS), Omoyinmi, Ebun, Lucy R. Wedderburn (125999), Thomson, W, Cathryn M Lewis, Lewis, Cathryn M; id_orcid, Forabosco Paola, Raja Hamaoui, Ursu, S, Wedderburn, L.R., Wedderburn, Lucy R., Ursu, Simona, Annette Bryant, Omoyinmi Ebun, Wedderburn, LR, ?, ?, Hamaoui Raja, Hamaoui, R., Hinks Anne, Patricia Woo, Annette Bryant (125990), Wedderburn, Lucy R, Bryant, Annette, Woo, P, Lewis, C.M., Lewis, CM, Woo, Patricia, Bryant, A, Forabosco, P., Patricia Woo (60657), Gardner-Medwin, J., Lewis, Cathryn M., Raja Hamaoui (125988), Wedderburn Lucy R., Hamaoui, R, Lucy R Wedderburn, Hinks, Anne, Cathryn M. Lewis (126002), Paola Forabosco, Anne Hinks, Omoyinmi, E., BSPAR study group, Thomson, W., Thomson Wendy, Paola Forabosco (125986), Wendy Thomson, Thomson, Wendy, Woo Patricia, Anne Hinks (23498), Bryant Annette, Simona Ursu, Childhood Arthritis Prospective Study (CAPS)   +66 more
core   +1 more source

Managing juvenile Huntington’s disease

, 2013
Huntington’s disease (HD) is a well-recognized progressive neurodegenerative disorder that follows an autosomal dominant pattern of inheritance. Onset is insidious and can occur at almost any age, but most commonly the diagnosis is made between the ages ...
Nance, M.A., Squitieri, F., Nopoulos, P., Paulsen, J.S., Smith, Jonathan A., Quarrell, O.   +5 more
core   +1 more source

Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease. [PDF]

Mov Disord, 2023
Schultz JL, Langbehn DR, Al-Kaylani HM, van der Plas E, Koscik TR, Epping EA, Espe-Pfeifer PB, Martin EP, Moser DJ, Magnotta VA, Nopoulos PC.   +10 more
europepmc   +1 more source

Impact of the control for corrupted diffusion tensor imaging data in comparisons at the group level : an application in Huntington disease [PDF]

, 2014
This work was supported by the European Union under the Seventh Framework programme– PADDINGTON Project, Grant Agreement No. 261358, and the European Huntington’s Disease Network (EHDN), project 070 – PADDINGTON.Background: Corrupted gradient directions (
Landwehrmeyer, G.B., Muller, H.P., Müller, H.-P., Hobbs, N.Z., Kassubek, J., Orth, M., Tabrizi, S.J., Klöppel, S., Sprengelmeyer, R., Ludolph, A.C., Süssmuth, S.D., Grön, G., Duerr, A., Roos, R.A.C.   +13 more
core   +1 more source

Systemic Onset Juvenile Idiopathic Arthritis (sJIA) or Still's Disease: A Diagnostic Challenge; while Presented as Fever of Unknown Origin. 2 Cases

, 2019
Systemic-onset juvenile idiopathic arthritis (sJIA) or Still's disease is a chronic inflammatory disease of unknown etiology belongs to the group of Juvenile Idiopathic Arthritis.
Fabia Hannan Mone, Gule Tajkia, Shamim Rima, Syed Khairul Amin, Soma Halder   +4 more
core   +1 more source

Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats

Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner.
Krygier, Magdalena, Zielonka, Daniel, Romano, Silvia, Limon, Janusz, Stanisławska-Sachadyn, Anna, Ziętkiewicz, Ewa, Sławek, Jarosław, REGISTRY investigators of the European Huntington’s Disease Network (EHDN), Krzemiński, Michał   +8 more
core   +1 more source