Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR

by de Souza Godinho, Fernanda Marques, Bock, Hugo, Gheno, Tailise Conte, Saraiva-Pereira, Maria Luiza
Published 2012

Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

by Siebert, Marina, Bock, Hugo, Michelin-Tirelli, Kristiane, Coelho, Janice C., Giugliani, Roberto, Saraiva-Pereira, Maria Luiza
Published 2012

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis

by Dal'Maso, Vinícius Buaes, Mallmann, Lucas, Siebert, Marina, Simon, Laura, Saraiva-Pereira, Maria Luiza, Dalcin, Paulo de Tarso Roth
Published 2013

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

by Artigalás, Osvaldo, Paskulin, Giorgio, Riegel, Mariluce, Burin, Maira, Saraiva-Pereira, Maria Luiza, Maluf, Sharbel, Kiss, Andrea, Schwartz, Ida Vanessa D.
Published 2012

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

by Velho, Renata Voltolini, Alegra, Taciane, Sperb, Fernanda, Ludwig, Nataniel Floriano, Saraiva-Pereira, Maria Luiza, Matte, Ursula, Schwartz, Ida V.D.
Published in Mol Genet Metab Rep (2014)

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

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

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells

by Siebert, Marina, Westbroek, Wendy, Chen, Yu-Chi, Moaven, Nima, Li, Yan, Velayati, Arash, Saraiva-Pereira, Maria Luiza, Martin, Scott E, Sidransky, Ellen
Published in RNA Biol (2015)

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

by 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
Published 2009

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

by Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, de Souza, Carolina F.M, Schwartz, Ida V.D., Matte, Ursula, Giugliani, Roberto
Published in Genet Mol Biol (2019)

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients

by Russo, Aline D., Reckziegel, Estela R., Krum‐Santos, Ana C., Augustin, Marina C., Scheeren, Betina, Freitas, Carine D., Torman, Vanessa L., Saraiva‐Pereira, Maria‐Luiza, Saute, Jonas A., Jardim, Laura B.
Published in Mov Disord Clin Pract (2015)

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

by 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
Published 2012

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

by Akçimen, Fulya, Martins, Sandra, Liao, Calwing, Bourassa, Cynthia V., Catoire, Hélène, Nicholson, Garth A., Riess, Olaf, Raposo, Mafalda, França, Marcondes C., Vasconcelos, João, Lima, Manuela, Lopes-Cendes, Iscia, Saraiva-Pereira, Maria Luiza, Jardim, Laura B., Sequeiros, Jorge, Dion, Patrick A., Rouleau, Guy A.
Published in Aging (Albany NY) (2020)

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

by 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
Published 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

by 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
Published in Genet Mol Biol (2019)

Population medical genetics: translating science to the community

by 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
Published in Genet Mol Biol (2019)

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

by Mendonça, Rodrigo de Holanda, Matsui, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurgel-Giannetti, Juliana, de Moura, Ana Carolina Monteiro Lessa, Sampaio, Gabriela Palhares Campolina, Oliveira, Acary Souza Bulle, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Nardes, Flávia, Araújo, Alexandra Prufer de Queiroz Campos, Marques, Wilson, Tomaselli, Pedro José, Ribeiro, Mara Dell Ospedale, Kitajima, João Paulo, Paoli Monteiro, Fabíola, Saute, Jonas Alex Morales, Becker, Michele Michelin, Saraiva-Pereira, Maria Luiza, Brusius-Facchin, Ana Carolina, van der Linden, Vanessa, Florêncio, Rodrigo Neves, Barbosa, André Vinícius Soares, Machado-Costa, Marcela Camara, Pessoa, André Luiz Santos, Souza, Leticia Silva, Franca, Marcondes Cavalcante, Kok, Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Neurol Genet (2020)