Results 31 to 40 of about 4,949,325 (279)

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

Associations of Plasma Glutamatergic Metabolites with Alpha Desynchronization during Cognitive Interference and Working Memory Tasks in Asymptomatic Alzheimer’s Disease

Cells
Electroencephalogram (EEG) studies have suggested compensatory brain overactivation in cognitively healthy (CH) older adults with pathological beta-amyloid(Aβ42)/tau ratios during working memory and interference processing.
Vincent Sonny Leong, Jiaquan Yu, Katherine Castor, Abdulhakim Al-Ezzi, Xianghong Arakaki, Alfred Nji Fonteh   +5 more
doaj   +1 more source

A case report of juvenile Huntington disease

Journal of Pediatric and Neonatal Individualized Medicine, 2017
Huntington disease (HD) is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances.
Anita Choudhary, Priyanka Minocha, Sadasivan Sitaraman   +2 more
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Lopes-Cendes, Iscia, Odile Russaouen, Cécile Cazeneuve, Cazeneuve, Cécile, Walker R.H., Russaouen O., Bader B., Guilherme Riccioppo Rodrigues, Brice A., Russaouen, Odile, Tumas, Vitor, Wilson Marques Jr., Rodrigues G.R., Iscia Lopes-Cendes, Danek, Adrian, Adrian Danek, MARQUES JR., Wilson, Brice, Alexis, Marques Jr. W., Marques, Wilson, Vitor Tumas, Walker, Ruth H., Bader, Benedikt, Benedikt Bader, Danek A., Cazeneuve C., Ruth H. Walker, Riccioppo Rodrigues, Guilherme, RODRIGUES, Guilherme Riccioppo, Alexis Brice, Tumas V., Lopes-Cendes I.   +31 more
core   +1 more source

Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT

Brain Sciences, 2019
Huntington’s disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27−35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG
Sipilä JOT
doaj   +1 more source

Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage

Frontiers in Physiology, 2023
Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder which is caused by a CAG repeat expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié, Shaun S. Sanders, Yen Nguyen, Dale D. O. Martin, Michael R. Hayden   +4 more
doaj   +1 more source

From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedside

FEBS Open Bio, EarlyView.
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia, Rachel Heilmann, Maximiliano Barrientos, Laura MacNeill, Ingrid Vallee, Sarah K. Schultz, Patrick O'Donoghue, Angelica A. Moresco, Victoria M. Siu, Ilka U. Heinemann   +9 more
wiley   +1 more source

Novel methods and therapeutic approaches of diagnosis and treatment of Huntington's disease [PDF]

, 2008
Huntington’s Disease is a neurodegenerative disorder characterized by motor dysfunction, emotional disturbance, dementia and weight loss. The disorder is caused by an autosomal dominant expansion of a CAG repeat encoding for a polyglutamine stretch in ...
Weiss, Andreas
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature

Tremor and Other Hyperkinetic Movements, 2017
Background Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia.
Christopher G. Tarolli, Amy M. Chesire, Kevin M. Biglan   +2 more
doaj   +1 more source