Search Results - "Saraiva‐Pereira, Maria‐Luiza"

Pre‐ataxic Changes of Clinical Scales and Eye Movement in Machado–Joseph Disease: BIGPRO Study by Oliveira, Camila Maria, Leotti, Vanessa Bielefeldt, Bolzan, Gabriela, Cappelli, Amanda Henz, Rocha, Anastacia Guimarães, Ecco, Gabriela, Kersting, Nathalia, Rieck, Mariana, Martins, Ana Carolina, Sena, Lucas Schenatto, Saraiva‐Pereira, Maria‐Luiza, Jardim, Laura Bannach

“…Background The pathological burden of spinocerebellar ataxia type 3, also known as Machado–Joseph disease (SCA3/MJD), accumulates before the beginning of…”
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A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease by Saute, Jonas Alex Morales, de Castilhos, Raphael Machado, Monte, Thais Lampert, Schumacher-Schuh, Artur Francisco, Donis, Karina Carvalho, D'Ávila, Rui, Souza, Gabriele Nunes, Russo, Aline Dutra, Furtado, Gabriel Vasata, Gheno, Tailise Conte, de Souza, Diogo Onofre Gomes, Portela, Luis Valmor Cruz, Saraiva-Pereira, Maria-Luiza, Camey, Suzi Alvez, Torman, Vanessa Bielefeld Leotti, de Mello Rieder, Carlos Roberto, Jardim, Laura Bannach

“…ABSTRACT Background Because lithium exerts neuroprotective effects in preclinical models of polyglutamine disorders, our objective was to assess the safety and…”
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Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease by Oliveira, Camila Maria, Leotti, Vanessa Bielefeldt, Cappelli, Amanda Henz, Rocha, Anastacia Guimarães, Ecco, Gabriela, Bolzan, Gabriela, Kersting, Nathalia, Saraiva‐Pereira, Maria‐Luiza, Jardim, Laura Bannach

“…ABSTRACT Background Little is known about preclinical stages of Machado‐Joseph disease, a polyglutamine disorder characterized by progressive adult‐onset…”
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Selective forces acting on spinocerebellar ataxia type 3/Machado–Joseph disease recurrency: A systematic review and meta‐analysis by Sena, Lucas Schenatto, Santos Pinheiro, Jordânia, Saraiva‐Pereira, Maria Luiza, Jardim, Laura Bannach

“…Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a dominant neurodegenerative disease caused by the expansion of a CAG repeat tract in ATXN3…”
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Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta‐analysis by Sena, Lucas Schenatto, Santos Pinheiro, Jordânia, Hasan, Ali, Saraiva‐Pereira, Maria Luiza, Jardim, Laura Bannach

“…Dominant diseases due to expanded CAG repeat tracts, such as spinocerebellar ataxia type 2 (SCA2), are prone to anticipation and worsening of clinical picture…”
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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, Souza, Carolina F M de, Schwartz, Ida V D, Matte, Ursula, Giugliani, Roberto

“…Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in…”
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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

“…Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is…”
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BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome by Ewald, Ingrid Petroni, Cossio, Silvia Liliana, Palmero, Edenir Inez, Pinheiro, Manuela, Nascimento, Ivana Lucia de Oliveira, Machado, Taisa Manuela Bonfim, Sandes, Kiyoko Abe, Toralles, Betânia, Garicochea, Bernardo, Izetti, Patricia, Pereira, Maria Luiza Saraiva, Bock, Hugo, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Peixoto, Ana, Teixeira, Manuel R, Ashton-Prolla, Patricia

“…Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are…”
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The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD by 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

“…Background The natural history of magnetic resonance imaging (MRI) in pre-ataxic stages of spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is…”
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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.

“…Background Although aspiration is one of the main causes of death in SCA, such as SCA3/Machado Joseph disease (SCA3/MJD), clinical studies on dysphagia are…”
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A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes by Sena, Lucas Schenatto, Lemes, Renan Barbosa, Furtado, Gabriel Vasata, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach

“…Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age of onset of symptoms (AO)…”
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Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing by Raposo, Mafalda, Bettencourt, Conceição, Melo, Ana Rosa Vieira, Ferreira, Ana F., Alonso, Isabel, Silva, Paulo, Vasconcelos, João, Kay, Teresa, Saraiva-Pereira, Maria Luiza, Costa, Marta D., Vilasboas-Campos, Daniela, Bettencourt, Bruno Filipe, Bruges-Armas, Jácome, Houlden, Henry, Heutink, Peter, Jardim, Laura Bannach, Sequeiros, Jorge, Maciel, Patrícia, Lima, Manuela

“…Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at…”
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Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease by Bolzan, Gabriela, Leotti, Vanessa Bielefeldt, de Oliveira, Camila Maria, Ecco, Gabriela, Cappelli, Amanda Henz, Rocha, Anastacia Guimarães, Kersting, Nathalia, Rieck, Mariana, de Sena, Lucas Schenatto, Martins, Ana Carolina, Saraiva-Pereira, Maria-Luiza, Jardim, Laura Bannach

“…Although health-related quality of life (HRQoL) has been increasingly valued in healthcare and in clinical trials, there is scarce information about it in…”
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Nonmotor and extracerebellar features in Machado-Joseph disease: A review by Pedroso, José Luiz, França Jr, Marcondes C., Braga-Neto, Pedro, D'Abreu, Anelyssa, Saraiva-Pereira, Maria Luiza, Saute, Jonas A., Teive, Hélio A., Caramelli, Paulo, Jardim, Laura Bannach, Lopes-Cendes, Iscia, Barsottini, Orlando Graziani P.

“…ABSTRACT Spinocerebellar ataxia type 3 or Machado‐Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor…”
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Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients by Hammerschmidt, Tatiane Grazieli, de Oliveira Schmitt Ribas, Graziela, Saraiva-Pereira, Maria Luiza, Bonatto, Márcia Polese, Kessler, Rejane Gus, Souza, Fernanda Timm Seabra, Trapp, Franciele, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Giugliani, Roberto, Vargas, Carmen Regla

“…•NP-C is a lysosomal storage disorder, caused by mutations in NPC1 or NPC2 genes, leading to cholesterol accumulation and others lipids.•NP-C diagnosis is…”
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Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes by de Castilhos, Raphael Machado, Furtado, Gabriel Vasata, Gheno, Tailise Conte, Schaeffer, Paola, Russo, Aline, Barsottini, Orlando, Pedroso, José Luiz, Salarini, Diego Z., Vargas, Fernando Regla, Lima, Maria Angélica de Faria Domingues de, Godeiro, Clécio, Santana-da-Silva, Luiz Carlos, Toralles, Maria Betânia Pereira, Santos, Silvana, van der Linden, Hélio, Wanderley, Hector Yuri, de Medeiros, Paula Frassineti Vanconcelos, Pereira, Eliana Ternes, Ribeiro, Erlane, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach

“…This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in different geographical regions of Brazil, and explores the…”
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Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean by Rodríguez-Labrada, Roberto, Martins, Ana Carolina, Magaña, Jonathan J., Vazquez-Mojena, Yaimeé, Medrano-Montero, Jacqueline, Fernandez-Ruíz, Juan, Cisneros, Bulmaro, Teive, Helio, McFarland, Karen N., Saraiva-Pereira, Maria Luiza, Cerecedo-Zapata, César M., Gomez, Christopher M., Ashizawa, Tetsuo, Velázquez-Pérez, Luis, Jardim, Laura Bannach

“…Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies…”
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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

“…Gaucher disease is an autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase. Although it is a monogenic disease, there is vast…”
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Selective Forces Related to Spinocerebellar Ataxia Type 2 by Sena, Lucas Schenatto, Castilhos, Raphael Machado, Mattos, Eduardo Preusser, Furtado, Gabriel Vasata, Pedroso, José Luiz, Barsottini, Orlando, de Amorim, Maria Marla Paiva, Godeiro, Clecio, Pereira, Maria Luiza Saraiva, Jardim, Laura Bannach

“…Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2 . Although prone to selective forces such as…”
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Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors by Monte, Thais L, Pereira, Fernanda, da Rosa Reckziegel, Estela, Augustin, Marina Coutinho, Locks-Coelho, Lucas D, Santos, Amanda S.P, Pedroso, José L, Barsottini, Orlando, Vargas, Fernando R, Saraiva-Pereira, Maria-Luiza, Jardim, Laura B

“…Abstract Background Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2 . SCA2 presents great clinical variability, alongside…”
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