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

Por de Souza Godinho, Fernanda Marques, Bock, Hugo, Gheno, Tailise Conte, Saraiva-Pereira, Maria Luiza
Publicado em 2012

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

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

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

Por Dal'Maso, Vinícius Buaes, Mallmann, Lucas, Siebert, Marina, Simon, Laura, Saraiva-Pereira, Maria Luiza, Dalcin, Paulo de Tarso Roth
Publicado em 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

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

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

Por Velho, Renata Voltolini, Alegra, Taciane, Sperb, Fernanda, Ludwig, Nataniel Floriano, Saraiva-Pereira, Maria Luiza, Matte, Ursula, Schwartz, Ida V.D.
Publicado no Mol Genet Metab Rep (2014)

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells

Por Siebert, Marina, Westbroek, Wendy, Chen, Yu-Chi, Moaven, Nima, Li, Yan, Velayati, Arash, Saraiva-Pereira, Maria Luiza, Martin, Scott E, Sidransky, Ellen
Publicado no RNA Biol (2015)

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 em 2009

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 em 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 no Orphanet J Rare Dis (2018)