Results 41 to 50 of about 10,552,439 (323)

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

Scientific Reports, 2017
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein.
Andreas Neueder, Christian Landles, Rhia Ghosh, David Howland, Richard H. Myers, Richard L. M. Faull, Sarah J. Tabrizi, Gillian P. Bates   +7 more
doaj   +1 more source

Huntington's disease: An immune perspective [PDF]

, 2011
Copyright © 2011 Annapurna Nayaketal. This article has been made available through the Brunel Open Access Publishing Fund.Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide ...
Kishore, U, Domenico Marco Bonifati, Ansar, R, Verma, SK, Rafia Ansar, Nayak, A, Sunil K. Verma, Annapurna Nayak, Bonifati, DM, Uday Kishore   +9 more
core   +1 more source

Gut dysbiosis in Huntington’s disease: associations among gut microbiota, cognitive performance and clinical outcomes

Brain Communications, 2020
Huntington’s disease is characterized by a triad of motor, cognitive and psychiatric impairments, as well as unintended weight loss. Although much of the research has focused on cognitive, motor and psychiatric symptoms, the extent of peripheral ...
Cory I Wasser, Emily-Clare Mercieca, Geraldine Kong, A. Hannan, S. McKeown, Y. Glikmann-Johnston, J. Stout   +6 more
semanticscholar   +1 more source

Raman spectroscopy of fibroblast cells from a Huntington’s disease patient [PDF]

, 2015
Raw dataset for Downes (2015) "Raman spectroscopy of fibroblast cells from a Huntington’s disease patient" In Submission. Set of Raman spectra from 20 individual cells from a patient with Huntington's disease (GM04281, Coriell Cell repository) and from ...
Downes, Andy
core   +1 more source

Another Perspective on Huntington’s Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD

Brain Sciences, 2021
Background: In addition to the effects on patients suffering from motor-manifest Huntington’s disease (HD), this fatal disease is devasting to people who are at risk, premanifest mutation-carriers, and especially to whole families. There is a huge burden
Jannis Achenbach, Carsten Saft
doaj   +1 more source

Additional file 1: of Manifestation of Huntingtonâ s disease pathology in human induced pluripotent stem cell-derived neurons

, 2016
Figure S1. PSC lines characterization. Figure S2. HD and WT PSC derived neurons analysis. Figure S3. Nuclear indentations in HD PSC derived neurons. Figure S4. Classification of up-regulated genes in HD neurons compared to WT neurons with GOrilla tool by molecular function. Figure S5.
Nekrasov, Evgeny, Vigont, Vladimir, Klyushnikov, Sergey, Lebedeva, Olga, Vassina, Ekaterina, Bogomazova, Alexandra, Chestkov, Ilya, Semashko, Tatiana, Kiseleva, Elena, Suldina, Lyubov, Bobrovsky, Pavel, Zimina, Olga, Ryazantseva, Maria, Skopin, Anton, Illarioshkin, Sergey, Kaznacheyeva, Elena, Lagarkova, Maria, Kiselev, Sergey   +17 more
openaire   +1 more source

Laser Evoked Potentials in Early and Presymptomatic Huntington’s Disease

Behavioural Neurology, 2016
Pain was rarely studied in Huntington’s disease (HD). We presently aimed to extend our previous study on pain pathways functions by laser evoked potentials (LEPs) to a larger cohort of early unmedicated HD patients and a small group of presymptomatic HD (
Marina de Tommaso, Giovanni Franco, Katia Ricci, Anna Montemurno, Vittorio Sciruicchio   +4 more
doaj   +1 more source

Case report: Cerebellar sparing in juvenile Huntington's disease

Frontiers in Neurology, 2023
Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of
Bruno Lopes Santos-Lobato, Bruno Lopes Santos-Lobato, Jéssica Santos de Souza Rocha, Luciano Chaves Rocha   +3 more
doaj   +1 more source

Additional file 1: of The dynamics of early-state transcriptional changes and aggregate formation in a Huntingtonâ s disease cell model

, 2017
Additional probes used on the microarray. Probes added to the default Nimblegen library to interrogate additional rat genes (A) or as expression controls for eGFP-Htt levels (B). (PDF 34 kb)
van Hagen, Martijn, Piebes, Diewertje, de Leeuw, Wim, Vuist, Ilona, van Roon-Mom, Willeke, Moerland, Perry, Verschure, Pernette   +6 more
openaire   +1 more source

Health-related quality of life in Huntington’s Disease patients: a comparison of proxy assessment and patient self-rating using the disease-specific Huntington’s Disease health-related quality of life questionnaire (HDQoL) [PDF]

, 2012
Huntington’s disease (HD) is a fatal, neurodegenerative disease for which there is no known cure. Proxy evaluation is relevant for HD as its manifestation might limit the ability of persons to report their health-related quality of life (HrQoL).
Gaffan, E A, Ho, Aileen K, E. A. Gaffan, Aileen K. Ho, Hocaoglu, M. B., Hocaoglu, Mevhibe B; id_orcid, Ho, Aileen K., Mevhibe B. Hocaoglu, Gaffan, Elizabeth A.   +8 more
core   +1 more source