Results 21 to 30 of about 6,842,722 (107)

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

, 2016
Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 gene.
Melo, Joana Barbosa, Gonçalves, António Freire, Carreira, Isabel Marques, Almeida, Luís Pereira de, Onofre, Isabel, Mendonça, Nuno, Nobre, Rui J., Lopes, Sara, Januário, Cristina   +8 more
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Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia [PDF]

, 2012
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.
Orlando Graziani Povoas Barsottini, Radvany, João, Barsottini, Orlando Graziani Povoas [UNIFESP], Pedro Braga-Neto, José Luiz Pedroso, Pedroso, José Luiz [UNIFESP], Braga-neto, Pedro [UNIFESP], João Radvany   +7 more
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Machado-Joseph Disease

, 1996
The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie ...
J Gordon Millichap
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Sleep Disorders In Machado-joseph Disease

, 2017
Purpose of reviewThis article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD).Recent findingsPathological studies have clearly demonstrated that degenerative process in ...
Lucila B. F.; do Prado, Jose Luiz; Braga-Neto, Pedro; Martinez, Alberto R. M.; Martins Junior, Manoel A.; Prado, Marcondes C.; Barsottini, Pedroso, Orlando G. P., Gilmar F.; Franca Junior, Carlos R.; Rezende Filho, Flavio M.; Sobreira-Neto   +10 more
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RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. [PDF]

, 2014
Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatment of
Isabel Nascimento-Ferreira, Nascimento-Ferreira, Isabel, Clévio Nóbrega, Pereira de Almeida, L., Albuquerque, David, Albuquerque, D., Nicole Déglon (46541), Onofre, Isabel, David Albuquerque (275749), Nóbrega, C., Isabel Onofre (275748), Luís Pereira de Almeida, Déglon, N., David Albuquerque, Isabel Onofre, Nascimento-Ferreira, I., Nicole Déglon, Almeida, Luís Pereira de, Déglon, Nicole, Onofre, I., Isabel Nascimento-Ferreira (275747), Clévio Nóbrega (275746), Luís Pereira de Almeida (221526), Nóbrega, Clévio   +23 more
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Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado-Joseph disease): A cross-sectional study

, 2011
Few studies on transcranial brain sonography have been performed in hereditary and non-hereditary ataxias. the objective of the present study was to report transcranial brain sonography findings in a sample of clinically and molecularly proven Machado ...
Edson Bor-Seng-Shu, Manoel Jacobsen Teixeira, Barsottini, Orlando Graziani [UNIFESP], Pedroso, Jose Luiz [UNIFESP], Teixeira, Manoel Jacobsen, Andre Carvalho Felício, Pedro Braga-Neto, Felicio, Andre Carvalho [UNIFESP], José Luiz Pedroso, Bor-Seng-Shu, Edson, Braga-Neto, Pedro [UNIFESP], Orlando Graziani Barsottini   +11 more
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Multiple sclerosis coinciding with Machado-Joseph disease.

, 2005
Although inflammatory demyelination is considered to be the key feature in multiple sclerosis (MS) pathogenesis, histopathological investigations and MRI studies recently highlighted the extent of neuronal damage that occurs even in the early stages of ...
Röhl, JE;Lünemann, JD;Zimmer, C;Zschenderlein, R;Valdueza, JM
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Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease [PDF]

, 2015
BACKGROUND: Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3.
João Vasconcelos, Bettencourt, B, Raposo, Mafalda, Ramos, A, Raposo, M, Vasconcelos, J, Kay, Teresa, Daniel Geschwind, Bruges-Armas, J, Amanda Ramos, Patrícia Maciel, Gao, F, Lima, Manuela, Coppola, G, Jácome Bruges‐Armas, Coppola, Giovanni, Bettencourt, Bruno, Ana João Rodrigues, Bettencourt, C, Ramos, Amanda, Vasconcelos, João, Bruno Bettencourt, Manuela Lima, Gao, Fuying, Mafalda Raposo, Fuying Gao, Maciel, P, Geschwind, Daniel, Kazachkova, Nadiya, Conceição Bettencourt, Bettencourt, Conceição, Kazachkova, N, Rodrigues, Ana João, Teresa Kay, Giovanni Coppola, Nadiya Kazachkova, Geschwind, D, Maciel, P., Maciel, Patrícia, Kay, T, Rodrigues, AJ, Lima, M, Bruges-Armas, Jácome   +42 more
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Cerebral cortex involvement in Machado-Joseph disease

, 2015
FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOCAPES - COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIORCNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOBackground and purpose: Machado-Joseph disease (MJD/SCA3 ...
Rezende, T. J. R. de, D'Abreu, A, França, M C, Lopes-Cendes, I., Guimarães, R P, Lopes, T. M., Cendes, F., Castellano, G., Lopes-Cendes, I, Guimarães, R. P., Castellano, G, D'Abreu, A., Lopes, T M, Cendes, F, de Rezende, T J R, França Jr., M. C.   +15 more
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Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. [PDF]

, 2015
Machado-Joseph disease (MJD) is an inherited neurodegenerative disease, caused by a CAG repeat expansion within the coding region of ATXN3 gene, and which currently lacks effective treatment.
Esteves Sofia, Sara Duarte-Silva (818641), Luana Naia (818642), Teixeira-Castro Andreia, Silva-Fernandes Anabela, Duarte-Silva, Sara, Andreia Neves-Carvalho, Andreia Neves-Carvalho (224087), Neves-Carvalho, Andreia, Patrícia Maciel, Anabela Silva-Fernandes, Fernandes, Anabela Silva, Sofia Esteves, Andreia Teixeira-Castro (224088), Ana Cristina Rego (818643), Castro, Andreia Cristiana Teixeira, Silva-Fernandes, Anabela, Luana Naia, Patrícia Maciel (224100), Carvalho, Andreia Alexandra Neves, Rego Ana Cristina, Teixeira-Castro, Andreia, Sofia Esteves (818640), Maciel Patrícia, Neves-Carvalho Andreia, Sara Duarte-Silva, Andreia Teixeira-Castro, Naia Luana, Naia, Luana, Maciel, P., Maciel, Patrícia, Ana Cristina Rego, Esteves, Sofia, Silva, Sara Carina Duarte, Rego, Ana Cristina, Anabela Silva-Fernandes (684103), Duarte-Silva Sara   +36 more
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