A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes by Lucas Schenatto Sena, Lucas Schenatto Sena, Renan Barbosa Lemes, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira, Maria Luiza Saraiva-Pereira, Maria Luiza Saraiva-Pereira, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim

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O Prêmio Nobel de Fisiologia e Medicina de 2009: O Papel dos Telômeros e da Telomerase na Manutenção dos Cromossomos by Laura Bannach Jardim, Patrícia Ashton-Prolla, Sharbel Weidner Maluf

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Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3 by Vanessa Brzoskowski dos Santos, Vanessa Brzoskowski dos Santos, Annelise Ayres, Maiara Laís Mallmann Kieling, Maiara Laís Mallmann Kieling, Elaine Cristina Miglorini, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Artur Francisco Schumacher-Schuh, Artur Francisco Schumacher-Schuh, Carlos Roberto de Mello Rieder, Raphael Machado de Castilhos, Raphael Machado de Castilhos, Kristie Spencer, Rui Rothe-Neves, Maira Rozenfeld Olchik, Maira Rozenfeld Olchik, Maira Rozenfeld Olchik

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Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal by Lavínia Schuler-Faccini, Claudio Maria Osorio, Flavia Romariz, Milena Paneque, Jorge Sequeiros, Laura Bannach Jardim

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Curva de Crescimento Usando Modelo Misto: Uma Aplicação na Progressão da Doença de Machado-Joseph by Lisiane Hauser, Álvaro Vigo, Christian Kieling, Laura Bannach Jardim, Suzi Alves Camey, Vanessa Bielefeldt Leotti

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In vitro effect of N-acetyl-L-cysteine on glutathione and sulfhydryl levels in X-linked adrenoleukodystrophy patients by Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas

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In vitro effect of N-acetyl-L-cysteine on glutathione and sulfhydryl levels in X-linked adrenoleukodystrophy patients by Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas

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State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change by Gabriel Vasata Furtado, Camila Maria de Oliveira, Gabriela Bolzan, Jonas Alex Morales Saute, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim

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Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease by Adriano M. de Assis, Adriano M. de Assis, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Gabriel Vasata Furtado, Tailise Conte Gheno, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Diogo Onofre Souza, Suzi Camey, Suzi Camey, Vanessa Bielefeldt Leotti, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Luis Valmor Portela, Luis Valmor Portela

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Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). by Teresa Almeida, Isabel Alonso, Sandra Martins, Eliana Marisa Ramos, Luísa Azevedo, Kinji Ohno, António Amorim, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Tohru Matsuura, Jorge Sequeiros, Isabel Silveira

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The progression rate of spinocerebellar ataxia type 3 varies with disease stage by Linliu Peng, Yun Peng, Zhao Chen, Chunrong Wang, Zhe Long, Huirong Peng, Yuting Shi, Lu Shen, Kun Xia, Vanessa B. Leotti, Laura Bannach Jardim, Beisha Tang, Rong Qiu, Hong Jiang

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil by Daniela Burguêz, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, Helena Fussiger, Leonardo Modesti Vedolin, Pablo Brea Winckler, Marcelo Krieger Maestri, Alessandro Finkelsztejn, Filippo Maria Santorelli, Laura Bannach Jardim, Jonas Alex Morales Saute

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Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases by Taiane Alves Vieira, Franciele Barbosa Trapp, Carolina Fischinger Moura de Souza, Lavínia Schuler Faccini, Laura Bannach Jardim, Ida Vanessa Doederlein Schwartz, Mariluce Riegel, Carmen Regla Vargas, Maira Graeff Burin, Sandra Leistner-Segal, Patrícia Ashton-Prolla, Roberto Giugliani

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Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy. by Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim

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Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease by Raphael Machado CASTILHOS, Marina Coutinho AUGUSTIN, José Augusto dos SANTOS, José Luiz PEDROSO, Orlando BARSOTTINI, Roberta SABA, Henrique Ballalai FERRAZ, Fernando Regla VARGAS, Gabriel Vasata FURTADO, Marcia Polese-BONATTO, Luiza Paulsen RODRIGUES, Lucas Schenatto SENA, Carmen Regla VARGAS, Maria Luiza SARAIVA-PEREIRA, Laura Bannach JARDIM, Rede NEUROGENÉTICA

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Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions by Raphael Machado de Castilhos, José Augusto dos Santos, Marina Coutinho Augustin, José Luiz Pedroso, Orlando Barsottini, Roberta Saba, Henrique Ballalai Ferraz, Clécio Godeiro Junior, Fernando Regla Vargas, Diego Zanotti Salarini, Gabriel Vasata Furtado, Marcia Polese-Bonatto, Luiza Paulsen Rodrigues, Lucas Schenatto Sena, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim

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The progression rate of spinocerebellar ataxia type 2 changes with stage of disease by Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, on behalf of Rede Neurogenética

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Population medical genetics: translating science to the community by Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski

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