Results 81 to 90 of about 6,618 (141)

Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To investigate the clinical features and dynamic mutation of 10 cases with juvenile-onset Huntington's disease (HD). Methods The cytosine-adenine-guanine (CAG) repeats of IT15 gene were detected by polymerase chain reaction (PCR) and capillary
Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Hui-zi MA, Wei-hong GU   +4 more
doaj  

El trabajo interdisciplinar en la enfermedad de Huntington [PDF]

, 2014
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, Fernández Sastre, Beatriz, Grau Rubio, Claudia, Hernández Lozano, David   +3 more
core  

Inhibition of Phosphodiesterase 10A by MP‐10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome

Advanced Science, Volume 12, Issue 36, September 25, 2025.
We demonstrate that Foxp1± mice, modeling FOXP1 haploinsufficiency, exhibit behavioral deficits, striatal neuroinflammatory changes including altered microglial complexity and synaptic pruning, and markedly reduced Pde10a expression. Pde10a inhibition starting immediately after birth restores Foxp1± behavior, microglial morphology, and pruning ...
Henning Fröhlich, Jing Wang, Ferdinand Althammer, Tim Schubert, Nina Kluck, Valery Grinevich, Stefanie Schmitteckert, Christian P. Schaaf, Gudrun A. Rappold   +8 more
wiley   +1 more source

Clinical and genetic study of a juvenile⁃onset Huntington disease

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Background Huntington's disease (HD) is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment.
Ying HAO, Yuan⁃yuan CHEN, Wei⁃hong GU, Guo⁃xiang WANG, Hui⁃zi MA, Li⁃lin LI, Kang WANG, Miao JIN, Xiao⁃hui DUAN   +8 more
doaj  

Volume Estimation of the Thalamus Using Freesurfer and Stereology: Consistency between Methods [PDF]

, 2012
Freely available automated MR image analysis techniques are being increasingly used to investigate neuroanatomical abnormalities in patients with neurological disorders.
Christoph Kellinghaus, E. Bernd Ringelstein, Harald Kugel, Jan S. Gerdes, Katja Deppe, Michael Deppe, Siawoosh Mohammadi, Simon S. Keller, Stefan Evers, Wolfram Schwindt   +9 more
core   +1 more source

The impact of molecular biology on clinical neurology. [PDF]

, 2001
Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
core  

Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease. [PDF]

Mov Disord, 2023
Schultz JL, Langbehn DR, Al-Kaylani HM, van der Plas E, Koscik TR, Epping EA, Espe-Pfeifer PB, Martin EP, Moser DJ, Magnotta VA, Nopoulos PC.   +10 more
europepmc   +1 more source

Medical and lay attitudes towards genetic screening and testing in Finland [PDF]

, 2003
Udgivelsesdato: 2003-AugThe purpose of this study was to compare physicians', midwives' and lay people's attitudes towards genetic screening and testing to find out whether medical education and experience influence attitudes of genetic screening and ...
AF Patenaude, AR Aro, AR Aro, Arja R Aro, C Lerman, C Lerman, C Lerman, E Hemminki, E Hemminki, EK Watson, Elina Hemminki, H Chaliki, H Toiviainen, Hanna Toiviainen, J Bell, JA Skelton, Jill Turner, JL Benkendorf, JP Struewing, KR Smith, LC Friedman, M Hietala, M Hietala, M Hietala, P Aula, P Jallinoja, P Jallinoja, P Jallinoja, P Jallinoja, P Jallinoja, P Santalahti, Piia Jallinoja, R Miettinen, RT Croyle, S Michie   +34 more
core   +2 more sources

The ubiquitin-proteasome system in neurodegeneration [PDF]

, 2014
SIGNIFICANCE: Impairment of the ubiquitin-proteasome system (UPS) has been implicated in the pathogenesis of a wide variety of neurodegenerative disorders, including Alzheimer's, Parkinson's, and Huntington's diseases.
McKinnon, C, Tabrizi, SJ
core   +1 more source

Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1. [PDF]

, 2018
mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Bateup, Helen S, Benthall, Katelyn N, Ong, Stacie L   +2 more
core   +2 more sources