scholarly journals Mouse models of Machado-Joseph disease and other polyglutamine spinocerebellar ataxias

NeuroRx ◽  
2005 ◽  
Vol 2 (3) ◽  
pp. 480-483 ◽  
Author(s):  
Veronica F. Colomer Gould
Keyword(s):  
Mouse Models ◽  
Spinocerebellar Ataxias ◽  
Machado Joseph Disease

scholarly journals Caloric restriction blocks neuropathology and motor deficits in Machado–Joseph disease mouse models through SIRT1 pathway

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Janete Cunha-Santos ◽  
Joana Duarte-Neves ◽  
Vitor Carmona ◽  
Leonard Guarente ◽  
Luís Pereira de Almeida ◽  
...  
Keyword(s):  
Caloric Restriction ◽  
Mouse Models ◽  
Motor Deficits ◽  
Machado Joseph Disease

scholarly journals Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany.

1995 ◽  
Vol 59 (4) ◽  
pp. 449-450 ◽  
Author(s):  
L Schols ◽  
G Amoiridis ◽  
M Langkafel ◽  
T Buttner ◽  
H Przuntek ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Spinocerebellar Ataxias ◽  
Disease Mutations ◽  
Machado Joseph Disease

scholarly journals Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

2012 ◽  
Vol 70 (8) ◽  
pp. 630-632 ◽  
Author(s):  
José Luiz Pedroso ◽  
Pedro Braga-Neto ◽  
João Radvany ◽  
Orlando Graziani Povoas Barsottini
Keyword(s):  
Nervous System ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Pathophysiological Mechanism ◽  
Spinocerebellar Ataxias ◽  
Specific Therapy ◽  
Genetic Characteristics ◽  
New Knowledge ◽  
Machado Joseph Disease ◽  
First Descriptions

Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.

scholarly journals Neuropeptide Y mitigates neuropathology and motor deficits in mouse models of Machado–Joseph disease

2015 ◽  
Vol 24 (19) ◽  
pp. 5451-5463 ◽  
Author(s):  
Joana Duarte-Neves ◽  
Nélio Gonçalves ◽  
Janete Cunha-Santos ◽  
Ana Teresa Simões ◽  
Wilfred F.A. den Dunnen ◽  
...  
Keyword(s):  
Neuropeptide Y ◽  
Mouse Models ◽  
Motor Deficits ◽  
Machado Joseph Disease

The autophagy‐enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado‐Joseph disease

2021 ◽  
Author(s):  
Ana Vasconcelos‐Ferreira ◽  
Sara Carmo‐Silva ◽  
José Miguel Codêsso ◽  
Patrick Silva ◽  
Alberto Rolim Muro Martinez ◽  
...  
Keyword(s):  
Mouse Models ◽  
Motor Impairment ◽  
Machado Joseph Disease
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