Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.
about
Discrepancies in reporting the CAG repeat lengths for Huntington's diseaseEMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseCharacterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.Modeling Huntington disease in yeast: perspectives and future directions.Complexity and heterogeneity: what drives the ever-changing brain in Huntington's disease?Motor-Language Coupling in Huntington's Disease Families.Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).Therapeutic approaches to preventing cell death in Huntington diseaseHD CAG-correlated gene expression changes support a simple dominant gain of function.The role of the immune system in triplet repeat expansion diseasesCharacterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.HTRF analysis of soluble huntingtin in PHAROS PBMCs.Exploring the correlates of intermediate CAG repeats in Huntington disease.Glia in the pathogenesis of neurodegenerative diseases.Huntington's Disease: Relationship Between Phenotype and Genotype.A link between chromatin condensation mechanisms and Huntington's disease: connecting the dots.Phenotype Characterization of HD Intermediate Alleles in PREDICT-HD.Huntington disease reduced penetrance alleles occur at high frequency in the general population.Huntington's disease: how intermediate are intermediate repeat lengths?Participants at the Leiden Site of the REGISTRY Study: A Demographic Approach.Uptake of Huntington disease predictive testing in a complete population.The Danish HD Registry-a nationwide family registry of HD families in Denmark.Whole-brain connectivity in a large study of Huntington's disease gene mutation carriers and healthy controls.Deletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies
P2860
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P2860
Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.
description
2007 nî lūn-bûn
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2007年の論文
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name
Reduced penetrance alleles for ...... re direct observational study.
@en
Reduced penetrance alleles for ...... re direct observational study.
@nl
type
label
Reduced penetrance alleles for ...... re direct observational study.
@en
Reduced penetrance alleles for ...... re direct observational study.
@nl
prefLabel
Reduced penetrance alleles for ...... re direct observational study.
@en
Reduced penetrance alleles for ...... re direct observational study.
@nl
P2093
P2860
P356
P1476
Reduced penetrance alleles for ...... re direct observational study.
@en
P2093
A Lashwood
Alan S Rigby
E Thompson
F L Raymond
P2860
P356
10.1136/JMG.2006.045120
P407
P577
2007-03-01T00:00:00Z