Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
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Ultra-rare Disease and Genomics-Driven Precision MedicineThe role of mutations in COL6A3 in isolated dystonia.Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.Hot topic: Recessive mutations in the a3(VI) collagen gene COL6A3 cause early-onset isolated dystonia.Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Genetics of movement disorders in the next-generation sequencing era.Heterogeneity of Collagen VI Microfibrils: STRUCTURAL ANALYSIS OF NON-COLLAGENOUS REGIONS.Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.Understanding dystonia: diagnostic issues and how to overcome them.Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Two novel COLVI long chains in zebrafish that are essential for muscle development.Lack of collagen VI promotes neurodegeneration by impairing autophagy and inducing apoptosis during aging.Identification of a novel genetic locus underlying tremor and dystonia.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).From Structure to Phenotype: Impact of Collagen Alterations on Human Health.Zebrafish as an Animal Model for Drug Discovery in Parkinson's Disease and Other Movement Disorders: A Systematic Review.Collagen VI in healthy and diseased nervous system.
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P2860
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
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name
Recessive mutations in the α3 ...... early-onset isolated dystonia.
@ast
Recessive mutations in the α3 ...... early-onset isolated dystonia.
@en
type
label
Recessive mutations in the α3 ...... early-onset isolated dystonia.
@ast
Recessive mutations in the α3 ...... early-onset isolated dystonia.
@en
prefLabel
Recessive mutations in the α3 ...... early-onset isolated dystonia.
@ast
Recessive mutations in the α3 ...... early-onset isolated dystonia.
@en
P2093
P2860
P50
P1476
Recessive mutations in the α3 ...... early-onset isolated dystonia.
@en
P2093
Aaro V Salminen
Angela Jochim
Barbara Schormair
Bernhard Haslinger
Ludmila Francescatto
Michael Zech
Nicholas Katsanis
Thomas Wieland
Tim M Strom
P2860
P304
P356
10.1016/J.AJHG.2015.04.010
P407
P577
2015-05-21T00:00:00Z