Results 51 to 60 of about 5,067,156 (162)

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider   +3 more
wiley   +1 more source

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease

open access: yesStem Cell Research, 2018
Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical ...
Giovannina Rotundo   +12 more
doaj   +1 more source

Radiotherapy Side Effects: Comprehensive Proteomic Study Unraveled Neural Stem Cell Degenerative Differentiation upon Ionizing Radiation

open access: yesBiomolecules, 2022
Cranial radiation therapy is one of the most effective treatments for childhood brain cancers. Despite the ameliorated survival rate of juvenile patients, radiation exposure-induced brain neurogenic region injury could markedly impair patients’ cognitive
Dong Liang   +6 more
doaj   +1 more source

The Timely Rise of a Teenage Reformer: Youth Revolt, Feminism and the Struggle for a ‘New Sexual Morality’ at the Dawn of the Spanish Second Republic

open access: yesGender &History, EarlyView.
ABSTRACT The contributions of propagandist and writer Hildegart (1914–1933) to Spanish cultural life are overshadowed by accounts of her unusual upbringing and violent death. This article examines the conditions that enabled the teenager to become a prominent voice for feminism and sexual reform on the eve of Spain's Second Republic (1931–1939).
Micaela Pattison
wiley   +1 more source

Identification and evaluation of biomarkers for Huntington’s disease [PDF]

open access: yes, 2009
Huntington’s disease (HD) is a devastating, incurable inherited neurodegenerative disorder that commonly affects adults in mid-life. Despite encouraging results from in vitro and animal trials, disease-modifying therapeutic trials in HD are limited by ...
Wild, E.J.
core  

22 Years of predictive testing for Huntington’s disease : the experience of the UK Huntington’s Prediction Consortium

open access: yes, 2017
"22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium" European Journal of Human Genetics (2016) 24, 1515; doi:10.1038/ejhg.2016.81 Corrigendum: 15 September 2016 European Journal of Human ...
Quarrell, Oliver W   +1 more
core   +1 more source

Evidence for dynamic and multiple roles for huntingtin in Ciona intestinalis [PDF]

open access: yes, 2013
Although mutations in the huntingtin gene (HTT) due to poly-Q expansion cause neuropathology in humans (Huntington’s disease; HD), the normal function(s) of the gene and its protein (HTT) remain obscure.
Idris, Mohammed M   +5 more
core   +1 more source

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease

open access: yesBMC Neurology, 2021
Background Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring ...
Katalin Despotov   +10 more
doaj   +1 more source

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

open access: yesThe FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti   +11 more
wiley   +1 more source

Variation within the Huntington's disease gene influences normal brain structure. [PDF]

open access: yes, 2011
Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Juliane Winkelmann   +40 more
core   +2 more sources

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