Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

por Schuler-Faccini, Lavínia, Osorio, Claudio Maria, Romariz, Flavia, Paneque, Milena, Sequeiros, Jorge, Jardim, Laura Bannach
Publicado 2014

A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes

por Sena, Lucas Schenatto, Lemes, Renan Barbosa, Furtado, Gabriel Vasata, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Publicado 2023

State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change

por Furtado, Gabriel Vasata, de Oliveira, Camila Maria, Bolzan, Gabriela, Saute, Jonas Alex Morales, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Publicado 2019

Remote Measurement of Functional Status in Pre-symptomatic and Symptomatic Individuals with Machado-Joseph Disease

por Miglorini, Elaine Cristina, de Souza, Victor Henrique Ignácio, de Oliveira, Camila Maria, Bolzan, Gabriela, Saraiva-Pereira, Maria Luiza, Leotti, Vanessa Bielefeldt, Jardim, Laura Bannach
Publicado 2022

Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

por Almeida, Teresa, Alonso, Isabel, Martins, Sandra, Ramos, Eliana Marisa, Azevedo, Luísa, Ohno, Kinji, Amorim, António, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Matsuura, Tohru, Sequeiros, Jorge, Silveira, Isabel
Publicado 2009

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

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

The progression rate of spinocerebellar ataxia type 3 varies with disease stage

por Peng, Linliu, Peng, Yun, Chen, Zhao, Wang, Chunrong, Long, Zhe, Peng, Huirong, Shi, Yuting, Shen, Lu, Xia, Kun, Leotti, Vanessa B., Jardim, Laura Bannach, Tang, Beisha, Qiu, Rong, Jiang, Hong
Publicado 2022

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics

por Habekost, Clarissa Troller, Schestatsky, Pedro, Torres, Vitor Felix, de Coelho, Daniella Moura, Vargas, Carmen Regla, Torrez, Vitor, Oses, Jean Pierre, Portela, Luis Valmor, Pereira, Fernanda dos Santos, Matte, Ursula, Jardim, Laura Bannach
Publicado 2014

Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3

por dos Santos, Vanessa Brzoskowski, Ayres, Annelise, Kieling, Maiara Laís Mallmann, Miglorini, Elaine Cristina, Jardim, Laura Bannach, Schumacher-Schuh, Artur Francisco, Rieder, Carlos Roberto de Mello, de Castilhos, Raphael Machado, Spencer, Kristie, Rothe-Neves, Rui, Olchik, Maira Rozenfeld
Publicado 2023

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

por Vieira, Taiane Alves, Trapp, Franciele Barbosa, de Souza, Carolina Fischinger Moura, Faccini, Lavínia Schuler, Jardim, Laura Bannach, Schwartz, Ida Vanessa Doederlein, Riegel, Mariluce, Vargas, Carmen Regla, Burin, Maira Graeff, Leistner-Segal, Sandra, Ashton-Prolla, Patrícia, Giugliani, Roberto
Publicado 2019

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph Disease

por França, Marcondes C., Emmel, Vanessa E., D’Abreu, Anelyssa, Maurer-Morelli, Cláudia V., Secolin, Rodrigo, Bonadia, Luciana Cardoso, da Silva, Marilza Santos, Nucci, Anamarli, Jardim, Laura Bannach, Saraiva-Pereira, Maria Luiza, Marques, Wilson, Paulson, Henry, Lopes-Cendes, Iscia
Publicado 2012

The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD

por de Oliveira, Camila Maria, Leotti, Vanessa Bielefeldt, Polita, Sandra, Anes, Mauricio, Cappelli, Amanda Henz, Rocha, Anastacia Guimarães, Ecco, Gabriela, Bolzan, Gabriela, Kersting, Nathalia, Duarte, Juliana Avila, Saraiva-Pereira, Maria-Luiza, Junior, Marcondes Cavalcante França, Rezende, Thiago Junqueira Ribeiro, Jardim, Laura Bannach
Publicado 2023

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

por Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M., Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach
Publicado 2012

The progression rate of spinocerebellar ataxia type 2 changes with stage of disease

por Monte, Thais Lampert, Reckziegel, Estela da Rosa, Augustin, Marina Coutinho, Locks-Coelho, Lucas D., Santos, Amanda Senna P., Furtado, Gabriel Vasata, de Mattos, Eduardo Preusser, Pedroso, José Luiz, Barsottini, Orlando Póvoas, Vargas, Fernando Regla, Saraiva-Pereira, Maria-Luiza, Camey, Suzi Alves, Leotti, Vanessa Bielefeldt, Jardim, Laura Bannach
Publicado 2018

Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions

por de Castilhos, Raphael Machado, dos Santos, José Augusto, Augustin, Marina Coutinho, Pedroso, José Luiz, Barsottini, Orlando, Saba, Roberta, Ferraz, Henrique Ballalai, Godeiro, Clécio, Vargas, Fernando Regla, Salarini, Diego Zanotti, Furtado, Gabriel Vasata, Polese-Bonatto, Marcia, Rodrigues, Luiza Paulsen, Sena, Lucas Schenatto, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Publicado 2019

Population medical genetics: translating science to the community

por Giugliani, Roberto, Bender, Fernanda, Couto, Rowena, Bochernitsan, Aline, Brusius-Facchin, Ana Carolina, Burin, Maira, Amorim, Tatiana, Acosta, Angelina Xavier, Purificação, Antônio, Leistner-Segal, Sandra, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Matte, Ursula, Riegel, Mariluce, Cardoso-dos-Santos, Augusto César, Rodrigues, Graziella, de Oliveira, Marcelo Zagonel, Tagliani-Ribeiro, Alice, Heck, Selia, Dresch, Vanusa, Schuler-Faccini, Lavínia, Kubaski, Francyne
Publicado 2019

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

por de Assis, Adriano M., Saute, Jonas Alex Morales, Longoni, Aline, Haas, Clarissa Branco, Torrez, Vitor Rocco, Brochier, Andressa Wigner, Souza, Gabriele Nunes, Furtado, Gabriel Vasata, Gheno, Tailise Conte, Russo, Aline, Monte, Thais Lampert, Castilhos, Raphael Machado, Schumacher-Schuh, Artur, D’Avila, Rui, Donis, Karina Carvalho, de Mello Rieder, Carlos Roberto, Souza, Diogo Onofre, Camey, Suzi, Leotti, Vanessa Bielefeldt, Jardim, Laura Bannach, Portela, Luis Valmor
Publicado 2017