Found: 73
Select item for more details and to access through your institution.
Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington's disease gene expansion carriers.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03461-x
- By:
- Publication type:
- Article
Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington's Disease and Their Partners (HD-eHelp Study): A User-Centered Design Approach.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.719460
- By:
- Publication type:
- Article
Enroll-HD: An Integrated Clinical Research Platform and Worldwide Observational Study for Huntington's Disease.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.667420
- By:
- Publication type:
- Article
The European Reference Network for Rare Neurological Diseases.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.616569
- By:
- Publication type:
- Article
Expanded polyglutamines impair synaptic transmission and ubiquitin–proteasome system in Caenorhabditis elegans.
- Published in:
- Journal of Neurochemistry, 2006, v. 98, n. 2, p. 576, doi. 10.1111/j.1471-4159.2006.03895.x
- By:
- Publication type:
- Article
Thalamic Atrophy in Huntington's Disease Co-varies with Cognitive Performance: A Morphometric MRI Analysis.
- Published in:
- Cerebral Cortex, 2005, v. 15, n. 6, p. 846, doi. 10.1093/cercor/bhh185
- By:
- Publication type:
- Article
Magnetic resonance perfusion imaging of resting-state cerebral blood flow in preclinical Huntington's disease.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2011, v. 31, n. 9, p. 1908, doi. 10.1038/jcbfm.2011.60
- By:
- Publication type:
- Article
Correction: Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
- Published in:
- Molecular Medicine, 2024, v. 30, n. 1, p. 1, doi. 10.1186/s10020-024-00801-2
- By:
- Publication type:
- Article
How to Arrange Follow-Up Time-Intervals for Longitudinal Brain MRI Studies in Neurodegenerative Diseases.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.682812
- By:
- Publication type:
- Article
Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-1
- By:
- Publication type:
- Article
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00317-w
- By:
- Publication type:
- Article
Huntington disease alters the actionable information in plasma extracellular vesicles.
- Published in:
- Clinical & Translational Medicine, 2024, v. 14, n. 1, p. 1, doi. 10.1002/ctm2.1525
- By:
- Publication type:
- Article
Prodromal Huntington Disease as a Model for Functional Compensation of Early Neurodegeneration.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114569
- By:
- Publication type:
- Article
Two-Point Magnitude MRI for Rapid Mapping of Brown Adipose Tissue and Its Application to the R6/2 Mouse Model of Huntington Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105556
- By:
- Publication type:
- Article
Disease Severity and Progression in Progressive Supranuclear Palsy and Multiple System Atrophy: Validation of the NNIPPS - PARKINSON PLUS SCALE.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022293
- By:
- Publication type:
- Article
Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy.
- Published in:
- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007114
- By:
- Publication type:
- Article
Expression Analysis of Ataxin-7 mRNA and Protein in Human Brain: Evidence for a Widespread Distribution and Focal Protein Accumulation.
- Published in:
- Brain Pathology, 2000, v. 10, n. 3, p. 385, doi. 10.1111/j.1750-3639.2000.tb00270.x
- By:
- Publication type:
- Article
An Isoform of Ataxin-3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients.
- Published in:
- Brain Pathology, 1998, v. 8, n. 4, p. 669, doi. 10.1111/j.1750-3639.1998.tb00193.x
- By:
- Publication type:
- Article
Impact of the control for corrupted diffusion tensor imaging data in comparisons at the group level: an application in Huntington disease.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Validation Study of a German Cognitive Battery for Huntington's Disease: Relationship Between Cognitive Performance, Functional Decline, and Disease Burden.
- Published in:
- Archives of Clinical Neuropsychology, 2021, v. 36, n. 1, p. 74, doi. 10.1093/arclin/acaa038
- By:
- Publication type:
- Article
Association of CAG Repeats With Long-term Progression in Huntington Disease.
- Published in:
- JAMA Neurology, 2019, v. 76, n. 11, p. 1375, doi. 10.1001/jamaneurol.2019.2368
- By:
- Publication type:
- Article
Intact sensory-motor network structure and function in far from onset premanifest Huntington's disease.
- Published in:
- Scientific Reports, 2017, p. 43841, doi. 10.1038/srep43841
- By:
- Publication type:
- Article
Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.817753
- By:
- Publication type:
- Article
Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.817753
- By:
- Publication type:
- Article
Medication Use in Early-HD Participants in TrackHD: an Investigation of its Effects on Clinical Performance.
- Published in:
- PLoS Currents, 2016, p. 280, doi. 10.1371/currents.hd.8060298fac1801b01ccea6acc00f97cb
- By:
- Publication type:
- Article
Current Pharmacological Management in Juvenile Huntington's Disease.
- Published in:
- PLoS Currents, 2012, p. 152, doi. 10.1371/currents.RRN1304
- By:
- Publication type:
- Article
Utilisation of Healthcare and Associated Services in Huntington's disease: a data mining study.
- Published in:
- PLoS Currents, 2011, p. 671, doi. 10.1371/currents.RRN1206
- By:
- Publication type:
- Article
Stability effects on results of diffusion tensor imaging analysis by reduction of the number of gradient directions due to motion artifacts: an application to presymptomatic Huntington's disease.
- Published in:
- PLoS Currents, 2011, p. 596, doi. 10.1371/currents.RRN1292
- By:
- Publication type:
- Article
NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
- Published in:
- PLoS Currents, 2011, p. 454, doi. 10.1371/currents.RRN1247
- By:
- Publication type:
- Article
Assessment of Motor Symptoms and Functional Impact in Prodromal and Early Huntington Disease.
- Published in:
- PLoS Currents, 2011, p. 200, doi. 10.1371/currents.RRN1244
- By:
- Publication type:
- Article
Fast-to-Slow Transition of Skeletal Muscle Contractile Function and Corresponding Changes in Myosin Heavy and Light Chain Formation in the R6/2 Mouse Model of Huntington’s Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0166106
- By:
- Publication type:
- Article
Commentary: Acanthocytes identified in Huntington's disease.
- Published in:
- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.1049676
- By:
- Publication type:
- Article
Speech biomarkers in Huntington's disease: A cross‐sectional study in pre‐symptomatic, prodromal and early manifest stages.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 5, p. 1262, doi. 10.1111/ene.15726
- By:
- Publication type:
- Article
Natural variation in sensory-motor white matter organization influences manifestations of Huntington's disease.
- Published in:
- Human Brain Mapping, 2016, v. 37, n. 12, p. 4615, doi. 10.1002/hbm.23332
- By:
- Publication type:
- Article
Brain activation and functional connectivity in premanifest Huntington's disease during states of intrinsic and phasic alertness.
- Published in:
- Human Brain Mapping, 2012, v. 33, n. 9, p. 2161, doi. 10.1002/hbm.21348
- By:
- Publication type:
- Article
Quantifying change in individual subjects affected by frontotemporal lobar degeneration using automated longitudinal MRI volumetry.
- Published in:
- Human Brain Mapping, 2012, v. 33, n. 7, p. 1526, doi. 10.1002/hbm.21304
- By:
- Publication type:
- Article
Catatonia: looking back and moving forward.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Dorsolateral prefrontal cortex dysfunction in presymptomatic Huntingtons disease: evidence from event-related fMRI.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 11, p. 2845
- By:
- Publication type:
- Article
Riluzole in Huntington's disease: a 3-year, randomized controlled study.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 3, p. 262, doi. 10.1002/ana.21181
- By:
- Publication type:
- Article
Low stability of huntington muscle Mitochondria against Ca2+ in R6/2 mice.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 2, p. 407
- By:
- Publication type:
- Article
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Riluzole prolongs survival time and alters nuclear inclusion formation in a transgenic mouse model of Huntington's disease.
- Published in:
- Movement Disorders, 2002, v. 17, n. 4, p. 748, doi. 10.1002/mds.10229
- By:
- Publication type:
- Article
A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset†.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3461
- By:
- Publication type:
- Article
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 20, doi. 10.1038/ejhg.2011.136
- By:
- Publication type:
- Article
High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington’s disease expansion mutation carriers shows normal mitochondrial respiratory function.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175248
- By:
- Publication type:
- Article
Body weight is a robust predictor of clinical progression in Huntington disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article