Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
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Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegenerationPulling complexes out of complex diseases: Spinocerebellar Ataxia 7.Brain pathology of spinocerebellar ataxias.Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings.Proteomics of dense core secretory vesicles reveal distinct protein categories for secretion of neuroeffectors for cell-cell communication.Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic populationNonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7.Whole-brain connectivity analysis and classification of spinocerebellar ataxia type 7 by functional MRI.Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.Spinocerebellar ataxia type 7: Report of an Indian family.Ophthalmic manifestations of inherited neurodegenerative disorders.Targeting mitochondrial function to protect against vision loss.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model.Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION.Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments.Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.Ataxia Severity Correlates with White Matter Degeneration in Spinocerebellar Ataxia Type 7.Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7.A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7.Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.Disruption of visual and motor connectivity in spinocerebellar ataxia type 7.Vision Loss in a Teenage Girl With Postconcussion Syndrome.Application of Optical Coherence Tomography in the Detection and Classification of Cognitive Decline.
P2860
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P2860
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
@ast
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
@en
type
label
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
@ast
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
@en
prefLabel
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
@ast
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
@en
P2093
P2860
P356
P1476
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
@en
P2093
Michalik A
Van Broeckhoven C
P2860
P2888
P356
10.1038/SJ.EJHG.5201108
P577
2004-01-01T00:00:00Z