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

door Schuler-Faccini, Lavínia, Osorio, Claudio Maria, Romariz, Flavia, Paneque, Milena, Sequeiros, Jorge, Jardim, Laura Bannach
Gepubliceerd in 2014

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

door Furtado, Gabriel Vasata, de Oliveira, Camila Maria, Bolzan, Gabriela, Saute, Jonas Alex Morales, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Gepubliceerd in Genet Mol Biol (2019)

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

door 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
Gepubliceerd in 2009

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

door 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
Gepubliceerd in 2013

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

door 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
Gepubliceerd in 2014

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

door 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
Gepubliceerd in Genet Mol Biol (2019)

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

door 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
Gepubliceerd in 2012

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

door 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
Gepubliceerd in 2012

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

door 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
Gepubliceerd in Orphanet J Rare Dis (2018)

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

door 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
Gepubliceerd in Genet Mol Biol (2019)

Population medical genetics: translating science to the community

door 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
Gepubliceerd in Genet Mol Biol (2019)

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

door 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
Gepubliceerd in Front Neurol (2017)

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

door Schöls, Ludger, Rattay, Tim W, Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J, Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marques, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M, Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thomas, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca
Gepubliceerd in Brain (2017)

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

door Renaud, Mathilde, Moreira, Maria-Céu, Ben Monga, Bondo, Rodriguez, Diana, Debs, Rabab, Charles, Perrine, Chaouch, Malika, Ferrat, Farida, Laurencin, Chloé, Vercueil, Laurent, Mallaret, Martial, M’Zahem, Abderrahim, Pacha, Lamia Ali, Tazir, Meriem, Tilikete, Caroline, Ollagnon, Elisabeth, Ochsner, François, Kuntzer, Thierry, Jung, Hans H., Beis, Jean-Marie, Netter, Jean-Claude, Djamshidian, Atbin, Bower, Mattew, Bottani, Armand, Walsh, Richard, Murphy, Sinead, Reiley, Thomas, Bieth, Éric, Roelens, Filip, Poll-The, Bwee Tien, Lourenço, Charles Marques, Jardim, Laura Bannach, Straussberg, Rachel, Landrieu, Pierre, Roze, Emmanuel, Thobois, Stéphane, Pouget, Jean, Guissart, Claire, Goizet, Cyril, Dürr, Alexandra, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Gepubliceerd in JAMA Neurol (2018)