El trabajo interdisciplinar en la enfermedad de Huntington [PDF]
Se argumenta la importancia del trabajo en equipo en la atención de las personas afectadas por la Enfermedad de Huntington y de sus familias, y se describen las principales funciones de los distintos profesionales que han de cubrir sus necesidades en ...
Fernández Hawrylak, María +3 more
core
Volume Estimation of the Thalamus Using Freesurfer and Stereology: Consistency between Methods [PDF]
Freely available automated MR image analysis techniques are being increasingly used to investigate neuroanatomical abnormalities in patients with neurological disorders.
Christoph Kellinghaus +9 more
core +1 more source
Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases. [PDF]
Using expression profiles from postmortem prefrontal cortex samples of 624 dementia patients and non-demented controls, we investigated global disruptions in the co-regulation of genes in two neurodegenerative diseases, late-onset Alzheimer's disease (AD)
Casaccia, Patrizia +19 more
core +3 more sources
Enfermedad de Huntington: estado del arte [PDF]
La enfermedad de Huntington es un desorden monogenético autosómico dominante, que genera un trastorno neurodegenerativo caracterizado por la pérdida de neuronas en diferentes partes del cerebro.
Rodas Sepúlveda, Carlos Daniel +1 more
core
T1DBase: integration and presentation of complex data for type 1 diabetes research [PDF]
T1DBase (http://T1DBase.org) [Smink et al. (2005) Nucleic Acids Res., 33, D544-D549; Burren et al. (2004) Hum. Genomics, 1, 98-109] is a public website and database that supports the type 1 diabetes (T1D) research community.
Hulbert, Erin M +20 more
core +2 more sources
Huntington’s disease (HD) is an autosomal-dominant inherited neurodegenerative disorder characterized by motor, psychiatric and cognitive symptoms. HD is caused by an expansion of CAG repeats in the huntingtin (HTT) gene in various areas of the brain ...
Minhee Jang +3 more
doaj +1 more source
Altered Balance of Activity in the Striatal Direct and Indirect Pathways in Mouse Models of Huntington's Disease [PDF]
Imbalance in the activity of striatal direct and indirect pathway neurons contributes to motor disturbances in several neurodegenerative diseases. In Huntington’s disease (HD), indirect pathway [dopamine (DA) D2 receptor-expressing)] medium-sized spiny ...
Véronique M. André +2 more
core +1 more source
Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk ...
Nesli Ece Sen +10 more
doaj +1 more source
Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage [PDF]
To test the hypotheses that mutant huntingtin protein length and wild-type huntingtin dosage have important effects on disease-related transcriptional dysfunction, we compared the changes in mRNA in seven genetic mouse models of Huntington's disease (HD)
Albin, Roger +23 more
core
Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents. [PDF]
Euan M. Scrimgeour +4 more
openalex +1 more source

