Found: 41
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Isolated Horner’s Syndrome May Herald Stroke.
- Published in:
- Cerebrovascular Diseases, 2005, v. 19, n. 4, p. 274, doi. 10.1159/000084370
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- Publication type:
- Article
"Ten euros now" temporal discounting in Huntington disease.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 8, p. 2763, doi. 10.1007/s10072-023-06775-z
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- Publication type:
- Article
International Guidelines for the Treatment of Huntington's Disease.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00710
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- Publication type:
- Article
Destination and source memory in Huntington's disease.
- Published in:
- Journal of Neuropsychology, 2016, v. 10, n. 1, p. 77, doi. 10.1111/jnp.12057
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- Publication type:
- Article
Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3624, doi. 10.1093/brain/awad228
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- Publication type:
- Article
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
- Published in:
- 2023
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- Publication type:
- journal article
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
- Published in:
- 2016
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- Publication type:
- journal article
Theory of mind and empathy in preclinical and clinical Huntington's disease.
- Published in:
- Social Cognitive & Affective Neuroscience, 2016, v. 11, n. 1, p. 89, doi. 10.1093/scan/nsv093
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- Publication type:
- Article
Therapeutic plasma exchange in chronic dysimmune peripheral neuropathies: A 10-year retrospective study.
- Published in:
- Journal of Clinical Apheresis, 2017, v. 32, n. 6, p. 413, doi. 10.1002/jca.21530
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- Publication type:
- Article
Longitudinal Study of Informed Consent in Innovative Therapy Research: Experience and Provisional Recommendations from a Multicenter Trial of Intracerebral Grafting.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0128209
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- Publication type:
- Article
Effectiveness of Anti-Psychotics and Related Drugs in the Huntington French-Speaking Group Cohort.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085430
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- Publication type:
- Article
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.
- Published in:
- 2018
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- Publication type:
- journal article
pH as a biomarker of neurodegeneration in Huntington's disease: a translational rodent-human MRS study.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 5, p. 771, doi. 10.1038/jcbfm.2012.15
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- Publication type:
- Article
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01768-1
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- Publication type:
- Article
Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 9, p. 1088, doi. 10.1001/jamaneurol.2017.1200
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- Publication type:
- Article
Sensorineural hearing loss in OPA1-linked disorders.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e236, doi. 10.1093/brain/aws340
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- Publication type:
- Article
Language processing within the striatum: evidence from a PET correlation study in Huntington's disease.
- Published in:
- 2008
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- Publication type:
- journal article
Language processing within the striatum: evidence from a PET correlation study in Huntingtons disease.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 1046, doi. 10.1093/brain/awn036
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- Publication type:
- Article
Design and application of a customizable relational DataBase to assess clinicopathological correlations and concomitant pathology in neurodegenerative diseases.
- Published in:
- Brain Pathology, 2023, v. 33, n. 3, p. 1, doi. 10.1111/bpa.13138
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- Publication type:
- Article
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
- Published in:
- 2015
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- Publication type:
- journal article
G51D [alpha]-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
G51D α-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 4, p. 459, doi. 10.1002/ana.23894
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- Publication type:
- Article
Hereditary optic neuropathies share a common mitochondrial coupling defect.
- Published in:
- Annals of Neurology, 2008, v. 63, n. 6, p. 794, doi. 10.1002/ana.21385
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- Publication type:
- Article
Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease.
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- Annals of Neurology, 2007, v. 61, n. 4, p. 315, doi. 10.1002/ana.21086
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- Publication type:
- Article
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 6, p. 958
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- Publication type:
- Article
Theory of Mind Impairments Highlighted With an Ecological Performance-Based Test Indicate Behavioral Executive Deficits in Traumatic Brain Injury.
- Published in:
- Frontiers in Neurology, 2020, v. 10, p. 1, doi. 10.3389/fneur.2019.01367
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- Publication type:
- Article
Assessing the experience of the quality of care of patients living with multiple sclerosis and their caregivers: The MusiCare questionnaire.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 3, p. 910, doi. 10.1111/ene.14685
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- Publication type:
- Article
COMT Val<sup>158</sup>Met Polymorphism Modulates Huntington's Disease Progression.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0161106
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- Publication type:
- Article
Insulin-Like Growth Factor-1 but Not Insulin Predicts Cognitive Decline in Huntington’s Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162890
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- Publication type:
- Article
How to Capitalize on the Retest Effect in Future Trials on Huntington’s Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145842
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- Publication type:
- Article
Stochastic Optical Reconstruction Microscopy Imaging of Multiple System Atrophy Inclusions Suggests Stepwise α-Synuclein Aggregation.
- Published in:
- Movement Disorders, 2024, v. 39, n. 4, p. 723, doi. 10.1002/mds.29744
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- Publication type:
- Article
Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 20, doi. 10.1002/humu.22703
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- Publication type:
- Article
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E692, doi. 10.1002/humu.21025
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- Publication type:
- Article
The most appropriate primary outcomes to design clinical trials on Huntington's disease: meta-analyses of cohort studies and randomized placebo-controlled trials.
- Published in:
- Fundamental & Clinical Pharmacology, 2014, v. 28, n. 6, p. 700, doi. 10.1111/fcp.12077
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- Publication type:
- Article
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease.
- Published in:
- Neurogenetics, 2010, v. 11, n. 1, p. 127, doi. 10.1007/s10048-009-0207-z
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- Publication type:
- Article
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 145, doi. 10.1007/s10048-008-0166-9
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- Publication type:
- Article
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease.
- Published in:
- 2017
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- Publication type:
- journal article
A phase II, open-label evaluation of cysteamine tolerability in patients with Huntington's disease.
- Published in:
- Movement Disorders, 2015, v. 30, n. 2, p. 288, doi. 10.1002/mds.26101
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- Publication type:
- Article
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 4, p. 365, doi. 10.1111/jns.12192
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- Publication type:
- Article
Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin.
- Published in:
- 2008
- By:
- Publication type:
- Letter