Search Results - "ONOFRE, Isabel"

Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice by Nóbrega, Clévio, Nascimento-Ferreira, Isabel, Onofre, Isabel, Albuquerque, David, Hirai, Hirokazu, Déglon, Nicole, de Almeida, Luís Pereira

“…Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly-inherited neurodegenerative disorder caused by the…”
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Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment by Onofre, Isabel, Mendonça, Nuno, Lopes, Sara, Nobre, Rui, de Melo, Joana Barbosa, Carreira, Isabel Marques, Januário, Cristina, Gonçalves, António Freire, de Almeida, Luis Pereira

“…Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the…”
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Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado―Joseph disease by NASCIMENTO-FERREIRA, Isabel, NOBREGA, Clévio, VASCONCELOS-FERREIRA, Ana, ONOFRE, Isabel, ALBUQUERQUE, David, AVELEIRA, Célia, HIRAI, Hirokazu, DEGLON, Nicole, DE ALMEIDA, Luis Pereira

“…Machado-Joseph disease or spinocerebellar ataxia type 3, the most common dominantly-inherited spinocerebellar ataxia, results from translation of the…”
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Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease by NASCIMENTO-FERREIRA, Isabel, SANTOS-FERREIRA, Tiago, PEREIRA DE ALMEIDA, Luís, SOUSA-FERREIRA, Lígia, AUREGAN, Gwennaëlle, ONOFRE, Isabel, ALVES, Sandro, DUFOUR, Noëlle, COLOMER GOULD, Veronica F, KOEPPEN, Arnulf, DEGLON, Nicole

“…Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by…”
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Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs by Pólvora-Brandão, Duarte, Joaquim, Mariana, Godinho, Inês, Aprile, Domenico, Álvaro, Ana Rita, Onofre, Isabel, Raposo, Ana Cláudia, Pereira de Almeida, Luís, Duarte, Sofia T, da Rocha, Simão T

“…Abstract The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease…”
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RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease by Nóbrega, Clévio, Nascimento-Ferreira, Isabel, Onofre, Isabel, Albuquerque, David, Déglon, Nicole, de Almeida, Luís Pereira

“…Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein…”
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Mitochondrial and Redox Modifications in Huntington Disease Induced Pluripotent Stem Cells Rescued by CRISPR/Cas9 CAGs Targeting by Lopes, Carla, Tang, Yang, Anjo, Sandra I., Manadas, Bruno, Onofre, Isabel, de Almeida, Luís P., Daley, George Q., Schlaeger, Thorsten M., Rego, Ana Cristina Carvalho

“…Mitochondrial deregulation has gained increasing support as a pathological mechanism in Huntington’s disease (HD), a genetic-based neurodegenerative disorder…”
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Overexpression of Mutant Ataxin-3 in Mouse Cerebellum Induces Ataxia and Cerebellar Neuropathology by Nóbrega, Clévio, Nascimento-Ferreira, Isabel, Onofre, Isabel, Albuquerque, David, Conceição, Mariana, Déglon, Nicole, de Almeida, Luís Pereira

“…Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a fatal, dominant neurodegenerative disorder caused by the…”
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Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease by Carmona, Vitor, Cunha-Santos, Janete, Onofre, Isabel, Simões, Ana Teresa, Vijayakumar, Udaya, Davidson, Beverly L., Pereira de Almeida, Luís

“…Machado-Joseph disease (MJD) is a genetic neurodegenerative disease caused by an expanded polyglutamine tract within the protein ataxin-3 (ATXN3). Despite…”
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Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease by Lopes, Sara M., Faro, Rosário, Lopes, Miguel M., Onofre, Isabel, Mendonça, Nuno, Ribeiro, Joana, Januário, Cristina, Nobre, Rui Jorge, Pereira de Almeida, Luís

“…Polyglutamine spinocerebellar ataxias (SCAs) constitute a group of autosomal dominantly inherited neurodegenerative disorders with considerable phenotypic…”
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Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies by Lopes, Sara Monteiro, Faro, Rosário, Lopes, Miguel Monteiro, Onofre, Isabel, Mendonça, Nuno, Ribeiro, Joana, Januário, Cristina, Nobre, Rui Jorge, Pereira de Almeida, Luís

“…Polyglutamine spinocerebellar ataxias (SCAs) constitute a group of autosomal dominantly inherited neurodegenerative disorders with considerable phenotypic…”
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RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease: e100086 by Nobrega, Clevio, Nascimento-Ferreira, Isabel, Onofre, Isabel, Albuquerque, David, Deglon, Nicole, Almeida, Luis Pereirade

“…Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein…”
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Dissecting the Pathogenesis of Machado-Joseph Disease in a New Human Disease Model Derived from Induced Pluripotent Stem Cells by dos Santos Onofre, Isabel Maria

“…A doença de Machado-Joseph, também conhecida por ataxia espinocerebelosa tipo 3, é a ataxia autossómica dominante mais comum a nível mundial. A DMJ é uma…”
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DO HIPPIE AO CHIQUE: OS SIGNOS PRESENTES NO CONSUMO DE CESTAS DE ALIMENTOS ORGÂNICOS by Onofre, Isabel Sarkis, Tavares, Larissa Ferreira, Fossá, Juliano Luiz, Rodrigues, Marcio Silva

“…Partindo da ideia que o mundo que se vive é organizado por e para as empresas e que a chamada empresarização do mundo vem impactando as relações de consumo do…”
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