Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado

Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado–Joseph disease

Published:2002-08 Issue:1-2 Volume:200 Page:19-25
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Muñoz E,Rey M.J,Milà M,Cardozo A,Ribalta T,Tolosa E,Ferrer I

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference27 articles.

1. CAG expansions in a novel gene for Machado–Joseph disease at chromosome 14q32.1;Kawaguchi;Nat. Genet.,1994

2. Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado–Joseph disease patients;Maciel;Am. J. Hum. Genet.,1997

3. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3;Paulson;Neuron,1997

4. Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo;Ikeda;Nat. Genet.,1996

5. Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?;Davies;Lancet,1998

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