Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
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Huntingtin promotes cell survival by preventing Pak2 cleavageHuntingtin in health and diseaseEMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseThe predicted structure of the headpiece of the Huntingtin protein and its implications on Huntingtin aggregationTransgenic models of Huntington's diseaseHuntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disordersGenotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington diseaseCorticostriatal Dysfunction in Huntington's Disease: The BasicsGenetics and neuropathology of Huntington's diseaseStructure and Topology of the Huntingtin 1–17 Membrane Anchor by a Combined Solution and Solid-State NMR ApproachSystems biology of neurodegenerative diseasesPAK in Alzheimer disease, Huntington disease and X-linked mental retardationAllele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patientsScalable production in human cells and biochemical characterization of full-length normal and mutant huntingtinDominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural CellsCharacterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.An Intein-based Strategy for the Production of Tag-free Huntingtin Exon 1 Proteins Enables New Insights into the Polyglutamine Dependence of Httex1 Aggregation and Fibril FormationPredicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease.Motor onset and diagnosis in Huntington disease using the diagnostic confidence level.Nonparametric estimation for censored mixture data with application to the Cooperative Huntington's Observational Research Trial.Identification of benzothiazoles as potential polyglutamine aggregation inhibitors of Huntington's disease by using an automated filter retardation assayMeasurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.Formation of polyglutamine inclusions in a wide range of non-CNS tissues in the HdhQ150 knock-in mouse model of Huntington's disease.Instability of normal (CTG)n alleles in the DM kinase gene.Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.Motor-Language Coupling in Huntington's Disease Families.Huntington disease models and human neuropathology: similarities and differencesMonomeric, oligomeric and polymeric proteins in huntington disease and other diseases of polyglutamine expansionPolyglutamine induced misfolding of huntingtin exon1 is modulated by the flanking sequences.Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease.An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors.Allele-selective inhibition of mutant huntingtin expression with antisense oligonucleotides targeting the expanded CAG repeat.Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutationTherapeutic approaches to preventing cell death in Huntington diseaseAttenuation of Rhes activity significantly delays the appearance of behavioral symptoms in a mouse model of Huntington's disease.CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches.Transgenic animal models of neurodegeneration based on human genetic studies.BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.Tandem repeat modification during double-strand break repair induced by an engineered TAL effector nuclease in zebrafish genome.Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology.
P2860
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P2860
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Phenotypic characterization of ...... ndividuals with 36-39 repeats.
@ast
Phenotypic characterization of ...... ndividuals with 36-39 repeats.
@en
type
label
Phenotypic characterization of ...... ndividuals with 36-39 repeats.
@ast
Phenotypic characterization of ...... ndividuals with 36-39 repeats.
@en
prefLabel
Phenotypic characterization of ...... ndividuals with 36-39 repeats.
@ast
Phenotypic characterization of ...... ndividuals with 36-39 repeats.
@en
P2093
P2860
P1476
Phenotypic characterization of ...... ndividuals with 36-39 repeats.
@en
P2093
A M Differ
C A Graham
D C Rubinsztein
D Crauford
E Almqvist
J C Hedreen
P2860
P407
P577
1996-07-01T00:00:00Z