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
Published 2010-01-01

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
Published 2014-01-01

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
Published 2009-04-01

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
Published 2017-04-01

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
Published 2017-04-01

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

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
Published 2017-09-01

Chromosome Instability and Oxidative Stress Markers in Patients with Ataxia Telangiectasia and Their Parents

by Luciane Bitelo Ludwig, Victor Hugo Valiati, Roberta Passos Palazzo, Laura Bannach Jardim, Darlan Pase da Rosa, Silvia Bona, Graziela Rodrigues, Norma Possa Marroni, Daniel Prá, Sharbel Weidner Maluf
Published 2013-01-01

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
Published 2009-01-01

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese

by Fernanda Aparecida Maggi, Pedro Braga-Neto, Hsin Fen Chien, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Mariana Callil Voos, José Luiz Pedroso, Orlando Graziani Povoas Barsottini

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

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

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
Published 2012-01-01

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

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

by Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim

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
Published 2018-01-01

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
Published 2019-04-01

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros Enzyme replacement therapy for mucopolysaccharidoses...

by Roberto Giugliani, Andressa Federhen, Maria Verónica Muñoz Rojas, Taiane Alves Vieira, Osvaldo Artigalás, Louise Lapagesse Carmargo Pinto, Ana Cecília Azevedo, Angelina Xavier Acosta, Carmem Bomfim, Charles Marques Lourenço, Chong Ae Kim, Dafne Horovitz, Denize Bomfim Souza, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Ribeiro Valadares, Fábio Guarany, Gisele Rosone De Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Corrêa Neto, José Carlos Fraga, José Eduardo Góes, José Maria Cabral, José Simeonato, Juan Clinton Llerena Jr, Laura Bannach Jardim, Liane de Rosso Giuliani, Luiz Carlos Santana da Silva, Mara Santos, Maria Ângela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Fishinger Moura de Souza, Flavio F Alcântara, Sylvio Gilberto A Avilla, Simone Fagondes, Ana Maria Martins
Published 2010-01-01