Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
about
Machado-Joseph Disease: from first descriptions to new perspectives.'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.Ataxin-3 promotes genome integrity by stabilizing Chk1.Machado-Joseph disease in a Nigerian family: mutational origin and review of the literatureClinical analysis of adult-onset spinocerebellar ataxias in Thailand.Toward understanding Machado-Joseph diseaseEpidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment.Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
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P2860
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
description
article
@en
im Oktober 2007 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2007
@uk
name
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
@en
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
@nl
type
label
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
@en
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
@nl
prefLabel
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
@en
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
@nl
P2093
P50
P1433
P1476
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
@en
P2093
Alexandra Dürr
Alexis Brice
Bing-wen Soong
Claudia Gaspar
Ewout R. Brunt
Garth A. Nicholson
Laura B. Jardim
Laura P. W. Ranum
Leal Loureiro
Lisbeth Tranebjaerg
P356
10.1001/ARCHNEUR.64.10.1502
P50
P577
2007-10-01T00:00:00Z