Results 111 to 120 of about 93,886 (309)

Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

Brain Sciences, 2020
Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington’s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis.
Mayke Oosterloo, Emilia K. Bijlsma, Christine de Die-Smulders, Raymund A.C. Roos   +3 more
doaj   +1 more source

Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity [PDF]

, 2015
Assemblies of huntingtin (HTT) fragments with expanded polyglutamine (polyQ) tracts are a pathological hallmark of Huntington's disease (HD). The molecular mechanisms by which these structures are formed and cause neuronal dysfunction and toxicity are ...
Andrade-Navarro, Miguel A., Bates, Gillian P., Boeddrich, Annett, Bounab, Yacine, Chaurasia, Gautam, Fournier, David, Friedrich, Ralf P., Futschik, Matthias E., Graham, Rona K., Haenig, Christian, Hayden, Michael R., Hesse, Franziska, Klockmeier, Konrad, Li, Shuang, Nicoletti, Cecilia, Priller, Josef, Riechers, Sean-Patrick, Russ, Jenny, Schnoegl, Sigrid, Sigrist, Stephan, Strempel, Nadine, Stroedicke, Martin, Wanker, Erich E., Wiglenda, Thomas, Yigit, Sargon   +24 more
core   +2 more sources

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

Annals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios, Jiali Gao, Carol A.C. Coupland, Julia Hippisley Cox, Martin R. Turner, Alexander G. Thompson   +5 more
wiley   +1 more source

Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues

Molecular Medicine
Background The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT.
Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P. Bates, G. Bernhard Landwehrmeyer, Andreas Neueder   +8 more
doaj   +1 more source

Anatomical Progression of Neuropathology in FTLD‐TDP Type C and Linkage to Annexin A11

Annals of Neurology, EarlyView.
Objective Frontotemporal lobar degenerations (FTLD)‐TDP type C (TDP‐C) is distinguished from other FTLD‐TDP subtypes by 3 unique features: (1) invariable onset in the anterior temporal lobe (ATL), (2) phosphorylated TDP‐43 (pTDP) neurites in cortex, and (3) colocalization of all pTDP deposits with annexin A11 (ANXA11).
Allegra Kawles, Caroline Nelson, Ivan Ayala, Elena Barbieri, Rudolph Castellani, Changiz Geula, Tamar Gefen, M. Marsel Mesulam   +7 more
wiley   +1 more source

Neuroimaging in Huntington’s disease [PDF]

Анналы клинической и экспериментальной неврологии
Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disorder for which effective disease-modifying treatments have not yet been developed. Current diagnosis of HD relies on clinical criteria and genetic testing.
George A. Anikin, Sergey A. Klyushnikov, Alexey S. Filatov, Alina A. Liaskovik, Sergey N. Illarioshkin   +4 more
doaj   +1 more source

Neuropathological investigations of three murine models of Huntington’s disease [PDF]

, 2009
Huntington’s disease (HD) is a purely genetic neurodegenerative disorder affecting approximately 1 in 10,000 people. It is most commonly associated with excessive involuntary movement, or chorea, combined with varying degrees of other motor ...
Raza, A.S.
core  

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe [PDF]

, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Aad Tibben, Bernhard Landwehrmeyer, C Dancyger, CE Levers, Christine Eiser, EA Earle, EA Earle, ET Gendlin, Ferdinando Squitieri, G Bruyn, G Nicolas, G Ronen, Helen Santini, HM Brewer, HM Brewer, HM Brewer, HM Brewer, I Epstein, JA Smith, JA Smith, JA Smith, Jonathan A Smith, Katie Lee Weille, M Dixon-Woods, M Orth, M Rawlins, MA Nance, Maria Rakowicz, Marie-Louise Goller, Martina Petrollini, Matteo Paduanello, MJ Novak, O Quarrell, Oliver Quarrell, P Lagerlove, P Ribbai, PJ Morrison, RA Barker, S Michie, T Hoppitt, Virginia Eatough, Wioletta Krysa, ‘Annunziata’ de Nicola   +42 more
core   +1 more source

Exploring the Roles of Tuna‐Associated Acinetobacter sp. YFT067: Implications for Host Health and Metabolism

Animal Research and One Health, EarlyView.
This study firstly isolated a tuna‐derived gut probiotic Acinetobacter seifertii YFT067. Dietary administration of YFT067 played significant roles in promoting growth performance, SCFAs production, lipid absorption, and metabolism of the host, indicating YFT067 as a promising probiotic candidate for enhancing tuna aquaculture productivity through ...
Ying Zou, Hai Huang, Qiongyao Fu, Zhiyuan Lu, Zhiqiang Guo   +4 more
wiley   +1 more source

Biomarkers for Huntington's disease: an update [PDF]

, 2012
Huntington's disease (HD) is a devastating autosomal-dominant neurodegenerative condition caused by a CAG repeat expansion in the gene encoding huntingtin which is characterised by progressive motor impairment, cognitive decline and neuropsychiatric ...
Scahill, RI, Tabrizi, SJ, Wild, EJ
core   +1 more source