Results 31 to 40 of about 5,645,275 (159)

Generation of two human iPSC lines from dermal fibroblasts of adult- and juvenile-onset Huntington's disease patients and two healthy donors

Stem Cell Research, 2023
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a mutation in the HTT gene. To generate human-induced pluripotent stem cells (hiPSCs), we used dermal fibroblasts from 1 healthy adult control (K-Pic2), 1 HD manifest ...
Marta Piechota, Ewelina Latoszek, Ewa Liszewska, Hana Hansíková, Jiří Klempíř, Alžbeta Mühlbäck, Georg Bernhard Landwehrmeyer, Jacek Kuźnicki, Magdalena Czeredys   +8 more
doaj   +1 more source

Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. [PDF]

, 2013
OBJECTIVES: To study muscle biopsy tissue from patients with juvenile dermatomyositis (JDM) in order to test the reliability of a score tool designed to quantify the severity of histological abnormalities when applied to biceps humeri in addition to ...
Pilkington, Clarissa A, Varsani, Hemlata, Marie, Suely KN, Lundberg, Ingrid E, Sallum, Adriana M E, Banwell, Brenda, Sallum, Adriana ME, Corse, Andrea M, Charman, Susan C, Jacques, Thomas S, Amato, Anthony A, Bove, Kevin E, Emslie-Smith, Alison M, Marie, Suely K N, Holton, Janice L, Nennesmo, Inger, Rushing, Elisabeth J, UK Juvenile Dermatomyositis Research Group, Li, Charles K, Amato, Anthony, Minetti, Carlo, Sewry, Caroline, Wedderburn, Lucy R, Bove, KE, Banwell, B, Varsani, H, Emslie-Smith, AM, Marie, SKN, Corse, AM, Li, CK, Jacques, TS, Amato, AA, Charman, SC   +32 more
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Pluripotent stem cell-derived models of neurological diseases reveal early transcriptional heterogeneity

Genome Biology, 2021
Background Many neurodegenerative diseases develop only later in life, when cells in the nervous system lose their structure or function. In many forms of neurodegenerative diseases, this late-onset phenomenon remains largely unexplained.
Matan Sorek, Walaa Oweis, Malka Nissim-Rafinia, Moria Maman, Shahar Simon, Cynthia C. Hession, Xian Adiconis, Sean K. Simmons, Neville E. Sanjana, Xi Shi, Congyi Lu, Jen Q. Pan, Xiaohong Xu, Mahmoud A. Pouladi, Lisa M. Ellerby, Feng Zhang, Joshua Z. Levin, Eran Meshorer   +17 more
doaj   +1 more source

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content [PDF]

, 2011
Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ...
Darren G. Monckton, Monckton, Darren G,, Monckton, D.G., Colm E. Nestor, Nestor, C.E., Nestor, Colm,, Darren G Monckton, Colm E Nestor   +7 more
core   +2 more sources

Exploring the structural relationship between interviewer and self-rated affective symptoms in Huntington’s disease [PDF]

, 2016
This study explores the structural relationship between self-report and interview measures of affect in Huntington’s disease. The findings suggest continued use of both to recognize the multidimensionality within a single common consideration of ...
Dale M, Ferraldeschi M, Underwood M, Rickards H, REGISTRY Investigators of the European Huntington’s Disease Network, Callaghan J, Romano S, Ristori G., Maltby J   +8 more
core   +1 more source

Molecular Components of Store-Operated Calcium Channels in the Regulation of Neural Stem Cell Physiology, Neurogenesis, and the Pathology of Huntington’s Disease

Frontiers in Cell and Developmental Biology, 2021
One of the major Ca2+ signaling pathways is store-operated Ca2+ entry (SOCE), which is responsible for Ca2+ flow into cells in response to the depletion of endoplasmic reticulum Ca2+ stores.
Ewelina Latoszek, Magdalena Czeredys
doaj   +1 more source

4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj   +1 more source

“Ectopic” theta oscillations and interictal activity during slow-wave state in the R6/1 mouse model of Huntington's disease

Neurobiology of Disease, 2012
The pathophysiology of Huntington's disease (HD) is primarily associated with striatal degeneration and a number of behavioral symptoms such as involuntary movements, cognitive decline, psychiatric disorders, and in the most juvenile-onset cases with ...
Michele Pignatelli, Fanny Lebreton, Yoon H. Cho, Xavier Leinekugel   +3 more
doaj   +1 more source

“Clinical profile of genetically proven huntington's disease patients from Eastern India”

Annals of Indian Academy of Neurology, 2020
Background and Aims: To study the clinical profile of genetically proven Huntington's disease (HD) patients from eastern India. Methods: This cross sectional study selected patients of HD after genetic confirmation of expanded CAG repeats in Huntingtin ...
Zakir Hussain, Adreesh Mukherjee, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Deb Sankar Guin, Uma Sinharoy, Atanu Biswas, Shyamal Kumar Das   +8 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