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Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit.BAG2 structure, function and involvement in disease.The Truncated C-terminal Fragment of Mutant ATXN3 Disrupts Mitochondria Dynamics in Spinocerebellar Ataxia Type 3 Models.The challenge of producing ubiquitinated proteins for structural studiesSpinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic studyHsp104 suppresses polyglutamine-induced degeneration post onset in a drosophila MJD/SCA3 model.The neurogenetics of atypical parkinsonian disordersThe role for alterations in neuronal activity in the pathogenesis of polyglutamine repeat disorders.The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.Energy landscapes of functional proteins are inherently risky.Allosteric regulation of deubiquitylase activity through ubiquitination.Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms.Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.Non-Ataxic Presenting Symptoms of Dominant Ataxias.Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3.Translating cerebellar Purkinje neuron physiology to progress in dominantly inherited ataxia.Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.A tale of a tail: Structural insights into the conformational properties of the polyglutamine protein ataxin-3.Clinical Reasoning: A 72-year-old man with nocturnal stridor.Generation of transgenic marmosets using a tetracyclin-inducible transgene expression system as a neurodegenerative disease model.Polyglutamine spinocerebellar ataxias - from genes to potential treatments.Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease.Excessive neural synchrony in Machado-Joseph disease responsive to subthalamic nucleus stimulation.Lithium chloride alleviates neurodegeneration partly by inhibiting activity of GSK3β in a SCA3 Drosophila model.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Machado-Joseph disease/spinocerebellar ataxia type 3.
@ast
Machado-Joseph disease/spinocerebellar ataxia type 3.
@en
type
label
Machado-Joseph disease/spinocerebellar ataxia type 3.
@ast
Machado-Joseph disease/spinocerebellar ataxia type 3.
@en
prefLabel
Machado-Joseph disease/spinocerebellar ataxia type 3.
@ast
Machado-Joseph disease/spinocerebellar ataxia type 3.
@en
P2860
P1476
Machado-Joseph disease/spinocerebellar ataxia type 3.
@en
P2093
Henry Paulson
P2860
P304
P356
10.1016/B978-0-444-51892-7.00027-9
P577
2012-01-01T00:00:00Z