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Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Elevated arteriolar cerebral blood volume in prodromal Huntington's disease.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Elevated arteriolar cerebral blood volume in prodromal Huntington's disease.
- Published in:
- Movement Disorders, 2014, v. 29, n. 3, p. 396, doi. 10.1002/mds.25591
- By:
- Publication type:
- Article
Striatal neuronal loss correlates with clinical motor impairment in Huntington's disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 11, p. 1379, doi. 10.1002/mds.25159
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- Publication type:
- Article
Brain metabolite alterations and cognitive dysfunction in early Huntington's disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 7, p. 895, doi. 10.1002/mds.25010
- By:
- Publication type:
- Article
Age, CAG repeat length, and clinical progression in Huntington's disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 2, p. 272, doi. 10.1002/mds.24024
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- Publication type:
- Article
Factors contributing to institutionalization in patients with Huntington's disease.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1711, doi. 10.1002/mds.23716
- By:
- Publication type:
- Article
Prevalence of anxiety disorders and anxiety subtypes in patients with Parkinson's disease.
- Published in:
- Movement Disorders, 2009, v. 24, n. 9, p. 1333, doi. 10.1002/mds.22611
- By:
- Publication type:
- Article
Huntington's disease like-2 neuropathology.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation.
- Published in:
- Movement Disorders, 2004, v. 19, n. 6, p. 641, doi. 10.1002/mds.20077
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- Publication type:
- Article
Phenotypic features of Huntington's disease-like 2 (A videotape accompanies this article.).
- Published in:
- Movement Disorders, 2003, v. 18, n. 12, p. 1527, doi. 10.1002/mds.10587
- By:
- Publication type:
- Article
FOXP2: novel exons, splice variants, and CAG repeat length stability.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 136, doi. 10.1007/s00439-002-0768-5
- By:
- Publication type:
- Article
Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65.
- Published in:
- Scientific Reports, 2015, p. 12521, doi. 10.1038/srep12521
- By:
- Publication type:
- Article
Enfermedad Huntington-Like 2 como causa de corea-acantocitosis.
- Published in:
- Archivos de Neurociencias, 2004, v. 9, p. 40
- By:
- Publication type:
- Article
Phosphorodiamidate morpholino oligomers suppress mutant huntingtin expression and attenuate neurotoxicity.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6302, doi. 10.1093/hmg/ddu349
- By:
- Publication type:
- Article
A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 17, p. 3467, doi. 10.1093/hmg/ddr263
- By:
- Publication type:
- Article
ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Schizophrenia: A point of disruption.
- Published in:
- Nature, 2009, v. 458, n. 7241, p. 976, doi. 10.1038/458976a
- By:
- Publication type:
- Article
Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 4, p. 302, doi. 10.1002/mdc3.12742
- By:
- Publication type:
- Article
Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington's disease patient cells.
- Published in:
- Molecular Brain, 2012, v. 5, n. 1, p. 17, doi. 10.1186/1756-6606-5-17
- By:
- Publication type:
- Article
Differential Changes in Functional Connectivity of Striatum-Prefrontal and Striatum-Motor Circuits in Premanifest Huntington's Disease.
- Published in:
- Neurodegenerative Diseases, 2019, v. 19, n. 2, p. 78, doi. 10.1159/000501616
- By:
- Publication type:
- Article
Diced Triplets Expose Neurons to RISC.
- Published in:
- 2012
- By:
- Publication type:
- Opinion
Neuronal signaling pathways: genetic insights into the pathophysiology of major mental illness.
- Published in:
- Neuropsychopharmacology, 2010, v. 35, n. 1, p. 350, doi. 10.1038/npp.2009.137
- By:
- Publication type:
- Article
Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia.
- Published in:
- Archives of Clinical Neuropsychology, 2018, v. 33, n. 4, p. 427, doi. 10.1093/arclin/acx077
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- Publication type:
- Article
A four-year prospective study of cognitive functioning in Huntington's disease.
- Published in:
- Journal of the International Neuropsychological Society, 2006, v. 12, n. 4, p. 445, doi. 10.1017/s1355617706060565
- By:
- Publication type:
- Article
Author Correction: Pharmacological rescue in patient iPSC and mouse models with a rare DISC1 mutation.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Pharmacological rescue in patient iPSC and mouse models with a rare DISC1 mutation.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21713-3
- By:
- Publication type:
- Article
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease?like 2.
- Published in:
- Nature Genetics, 2001, v. 29, n. 4, p. 377, doi. 10.1038/ng760
- By:
- Publication type:
- Article
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 391, doi. 10.1038/70493
- By:
- Publication type:
- Article
Synphilin-1 associates with α-synuclein and promotes the formation of cytosolic inclusions.
- Published in:
- Nature Genetics, 1999, v. 22, n. 1, p. 110, doi. 10.1038/8820
- By:
- Publication type:
- Article
Impaired response of cerebral oxygen metabolism to visual stimulation in Huntington's disease.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2021, v. 41, n. 5, p. 1119, doi. 10.1177/0271678X20949286
- By:
- Publication type:
- Article
Synaptic dysregulation in a human iPS cell model of mental disorders.
- Published in:
- Nature, 2014, v. 515, n. 7527, p. 414, doi. 10.1038/nature13716
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- Publication type:
- Article
Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
- Published in:
- Expert Reviews in Molecular Medicine, 2003, v. 5, n. 21, p. 1, doi. 10.1017/S1462399403006598
- By:
- Publication type:
- Article
Use of single guided Cas9 nickase to facilitate precise and efficient genome editing in human iPSCs.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89312-2
- By:
- Publication type:
- Article
A high-throughput screening to identify small molecules that suppress huntingtin promoter activity or activate huntingtin-antisense promoter activity.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85279-2
- By:
- Publication type:
- Article
Abnormal Grey Matter Arteriolar Cerebral Blood Volume in Schizophrenia Measured With 3D Inflow-Based Vascular-Space-Occupancy MRI at 7T.
- Published in:
- Schizophrenia Bulletin, 2017, v. 43, n. 3, p. 620, doi. 10.1093/schbul/sbw109
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- Publication type:
- Article
α-Synuclein Phosphorylation Enhances Eosinophilic Cytoplasmic Inclusion Formation in SH-SY5Y Cells.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 23, p. 5544, doi. 10.1523/JNEUROSCI.0482-05.2005
- By:
- Publication type:
- Article
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 71, doi. 10.1186/1471-2350-7-71
- By:
- Publication type:
- Article
Regionally selective atrophy of subcortical structures in prodromal HD as revealed by statistical shape analysis.
- Published in:
- Human Brain Mapping, 2014, v. 35, n. 3, p. 792, doi. 10.1002/hbm.22214
- By:
- Publication type:
- Article
Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization.
- Published in:
- Nature Medicine, 1999, v. 5, n. 10, p. 1194, doi. 10.1038/13518
- By:
- Publication type:
- Article
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.
- Published in:
- Behavioral & Brain Functions, 2011, v. 7, n. 1, p. 19, doi. 10.1186/1744-9081-7-19
- By:
- Publication type:
- Article
Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.
- Published in:
- Movement Disorders, 2023, v. 38, n. 12, p. 2230, doi. 10.1002/mds.29605
- By:
- Publication type:
- Article
RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2.
- Published in:
- Movement Disorders, 2021, v. 36, n. 11, p. 2519, doi. 10.1002/mds.28729
- By:
- Publication type:
- Article
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1117, doi. 10.1002/humu.21342
- By:
- Publication type:
- Article
Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 2, p. 245, doi. 10.1002/ana.22598
- By:
- Publication type:
- Article
Huntington's diseaseâlike 2 is associated with CUG repeatâcontaining RNA foci.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 3, p. 272, doi. 10.1002/ana.21081
- By:
- Publication type:
- Article
Huntington's disease–like 2 (HDL2) in North America and Japan.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 5, p. 670
- By:
- Publication type:
- Article
Functional brain changes in presymptomatic Huntington's disease.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 6, p. 879
- By:
- Publication type:
- Article
Predictors of neuropathological severity in 100 patients with Huntington's disease.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 4, p. 488
- By:
- Publication type:
- Article
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 5, p. 662, doi. 10.1002/ana.10184
- By:
- Publication type:
- Article