Results 21 to 30 of about 39,435 (253)

High Dose Sugammadex Administiration in a Case of Huntington Chorea

Medicine Science, 2016
Huntington Chorea is central nervues system disease that is inherited autosomal dominantly which causes miscellaneous difficulties and has features by the aspect of anesthesia management.
Mehmet Selcuk Uluer, Mehmet Sargin, Eyup Aydogan, Sadik Ozmen   +3 more
doaj   +1 more source

Circulating hsa-miR-323b-3p in Huntington's Disease: A Pilot Study

Frontiers in Neurology, 2021
The momentum of gene therapy in Huntington's disease (HD) deserves biomarkers from easily accessible fluid. We planned a study to verify whether plasma miRNome may provide useful peripheral “reporter(s)” for the management of HD patients. We performed an
Michela Ferraldeschi, Silvia Romano, Simona Giglio, Carmela Romano, Emanuele Morena, Rosella Mechelli, Viviana Annibali, Martina Ubaldi, Maria Chiara Buscarinu, Renato Umeton, Renato Umeton, Renato Umeton, Renato Umeton, Gabriele Sani, Gabriele Sani, Andrea Vecchione, Marco Salvetti, Marco Salvetti, Giovanni Ristori, Giovanni Ristori   +19 more
doaj   +1 more source

Bilateral Striatal Syndromes

Pediatric Neurology Briefs, 1993
The clinical manifestations and outcome in 13 patients with bilateral basal ganglia lesions and neurological dysfunction are reported from the Child Neurology Unit, Vall D’Hebron University Hospital, Barcelona, Spain.
J Gordon Millichap
doaj   +1 more source

Experience of experimental simulation of Huntington’s disease

Анналы клинической и экспериментальной неврологии, 2017
Huntingtons disease (HD) is an autosomal dominant neurodegenerativedisease characterized by choreic hyperkinesia, cognitivedecline, behavioral disorders, and progressive neuronaldeath affecting primarily the striatum.
A. V. Stavrovskaya, D. N. Voronkov, N. G. Yamshchikova, A. S. Ol’shanskiy, R. M. Khudoerkov, S. N. Illarioshkin   +5 more
doaj   +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

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +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

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source