Works by Saraiva‐Pereira, Maria‐Luiza

Results: 46

Caffeine Consumption and Interaction with ADORA2A, CYP1A2 and NOS1 Variants Do Not Influence Age at Onset of Machado-Joseph Disease.

Published in:

Cerebellum, 2024, v. 23, n. 6, p. 2217, doi. 10.1007/s12311-024-01717-7

By:

Martins, Ana Carolina;
Pinheiro, Jordânia dos Santos;
Szinwelski, Luciana;
Cidade, Eduardo Rockenbach;
Santin, Danilo Fernando;
Proença, Laura Damke;
Araújo, Bruna Almeida;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Machado Joseph-Disease Is Rare in the Peruvian Population.

Published in:

Cerebellum, 2023, v. 22, n. 6, p. 1192, doi. 10.1007/s12311-022-01491-4

By:

Cornejo-Olivas, Mario;
Solis-Ponce, Lesly;
Araujo-Aliaga, Ismael;
Milla-Neyra, Karina;
Ortega, Olimpio;
Illanes-Manrique, Maryenela;
Mazzetti, Pilar;
Manrique-Enciso, Carla;
Cubas-Montecino, Diana;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura B.;
Sarapura-Castro, Elison

Publication type:

Article

Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease.

Published in:

Cerebellum, 2023, v. 22, n. 3, p. 348, doi. 10.1007/s12311-022-01404-5

By:

dos Santos Pinheiro, Jordânia;
Sena, Lucas Schenatto;
Donis, Karina Carvalho;
Furtado, Gabriel Vasata;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

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

Published in:

Cerebellum, 2023, v. 22, n. 3, p. 475, doi. 10.1007/s12311-022-01399-z

By:

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

Publication type:

Article

Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease.

Published in:

Cerebellum, 2022, v. 21, n. 2, p. 297, doi. 10.1007/s12311-021-01299-8

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

Publication type:

Article

Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.

Published in:

Cerebellum, 2021, v. 20, n. 6, p. 946, doi. 10.1007/s12311-021-01258-3

By:

Véliz-Otani, Diego;
Cubas-Montecino, Diana;
Milla-Neyra, Karina;
Ashizawa, Tetsuo;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach;
Cornejo-Olivas, Mario

Publication type:

Article

Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.

Published in:

Cerebellum, 2020, v. 19, n. 3, p. 446, doi. 10.1007/s12311-020-01109-7

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

Publication type:

Article

Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.

Published in:

2020

By:

Cornejo-Olivas, Mario;
Inca-Martinez, Miguel;
Castilhos, Raphael Machado;
Furtado, Gabriel Vasata;
Mattos, Eduardo Preusser;
Bampi, Giovana Bavia;
Leistner-Segal, Sandra;
Marca, Victoria;
Mazzetti, Pilar;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Correction Notice

Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.

Published in:

Cerebellum, 2020, v. 19, n. 2, p. 208, doi. 10.1007/s12311-019-01098-2

By:

Cornejo-Olivas, Mario;
Inca-Martinez, Miguel;
Castilhos, Raphael Machado;
Furtado, Gabriel Vasata;
Mattos, Eduardo Preusser;
Bampi, Giovana Bavia;
Leistner-Segal, Sandra;
Marca, Victoria;
Mazzetti, Pilar;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.

Published in:

Cerebellum, 2019, v. 18, n. 5, p. 841, doi. 10.1007/s12311-019-01057-x

By:

Véliz-Otani, Diego;
Inca-Martinez, Miguel;
Bampi, Giovana B.;
Ortega, Olimpio;
Jardim, Laura B.;
Saraiva-Pereira, Maria Luiza;
Mazzetti, Pilar;
Cornejo-Olivas, Mario

Publication type:

Article

Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7.

Published in:

Cerebellum, 2019, v. 18, n. 3, p. 388, doi. 10.1007/s12311-019-1004-3

By:

Azevedo, Pietro B.;
Rocha, Anastácia G.;
Keim, Leda M. N.;
Lavinsky, Daniel;
Furtado, Gabriel V.;
de Mattos, Eduardo P.;
Vargas, Fernando R.;
Leotti, Vanessa B.;
Saraiva-Pereira, Maria-Luiza;
Jardim, Laura B.

Publication type:

Article

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2.

Published in:

2019

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;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Correction Notice

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.

Published in:

Cerebellum, 2019, v. 18, n. 1, p. 147, doi. 10.1007/s12311-018-0958-x

By:

Fussiger, Helena;
Saraiva-Pereira, Maria Luiza;
Leistner-Segal, Sandra;
Jardim, Laura Bannach

Publication type:

Article

NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.

Published in:

Cerebellum, 2017, v. 16, n. 4, p. 852, doi. 10.1007/s12311-017-0855-8

By:

Monte, Thais;
Reckziegel, Estela;
Augustin, Marina;
Silva, Amanda;
Locks-Coelho, Lucas;
Barsottini, Orlando;
Pedroso, José;
Vargas, Fernando;
Saraiva-Pereira, Maria-Luiza;
Leotti, Vanessa;
Jardim, Laura

Publication type:

Article

ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.

Published in:

2015

By:

Pereira, Fernanda;
Monte, Thais;
Locks-Coelho, Lucas;
Silva, Amanda;
Barsottini, Orlando;
Pedroso, José;
Cornejo-Olivas, Mario;
Mazzetti, Pilar;
Godeiro, Clecio;
Vargas, Fernando;
Lima, Maria-Angélica;
Linden, Hélio;
Toralles, Maria;
Medeiros, Paula;
Ribeiro, Erlane;
Braga-Neto, Pedro;
Salarini, Diego;
Castilhos, Raphael;
Saraiva-Pereira, Maria-Luiza;
Jardim, Laura

Publication type:

Letter

Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease.

Published in:

Movement Disorders, 2023, v. 38, n. 1, p. 26, doi. 10.1002/mds.29226

By:

de 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

Publication type:

Article

Pre‐ataxic Changes of Clinical Scales and Eye Movement in Machado–Joseph Disease: BIGPRO Study.

Published in:

Movement Disorders, 2021, v. 36, n. 4, p. 985, doi. 10.1002/mds.28466

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

Publication type:

Article

A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease.

Published in:

Movement Disorders, 2014, v. 29, n. 4, p. 568, doi. 10.1002/mds.25803

By:

Saute, Jonas Alex Morales;
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;
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

Publication type:

Article

Nonmotor and extracerebellar features in Machado-Joseph disease: A review.

Published in:

Movement Disorders, 2013, v. 28, n. 9, p. 1200, doi. 10.1002/mds.25513

By:

Pedroso, José Luiz;
França, 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.

Publication type:

Article

Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3.

Published in:

Movement Disorders, 2011, v. 26, n. 4, p. 731, doi. 10.1002/mds.23428

By:

Saute, Jonas Alex Morales;
da Silva, Andrew Chaves Feitosa;
Muller, Alexandre Pastoris;
Hansel, Gisele;
de Mello, Alexandre Silva;
Maeda, Fábio;
Vedolin, Leonardo;
Saraiva-Pereira, Maria Luiza;
Souza, Diogo Onofre;
Arpa, Javier;
Torres-Aleman, Ignacio;
Portela, Luis Valmor Cruz;
Jardim, Laura Bannach

Publication type:

Article

Polymorphic Variants of UGT1A1 in Neonatal Jaundice in Southern Brazil.

Published in:

Journal of Tropical Pediatrics, 2010, v. 56, n. 5, p. 366, doi. 10.1093/tropej/fmp131

By:

GUTIÉRREZ CARVALHO, CLARISSA;
MARTINS CASTRO, SIMONE;
SANTIN, ANA PAULA;
ALENCASTRO DE AZEVEDO, LAURA;
SARAIVA PEREIRA, MARIA LUIZA;
GIUGLIANI, ROBERTO

Publication type:

Article

Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 258, doi. 10.1111/cge.13978

By:

Sena, Lucas Schenatto;
dos Santos Pinheiro, Jordânia;
Hasan, Ali;
Saraiva‐Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Selective forces acting on spinocerebellar ataxia type 3/Machado–Joseph disease recurrency: A systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 347, doi. 10.1111/cge.13888

By:

Sena, Lucas Schenatto;
Santos Pinheiro, Jordânia;
Saraiva‐Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 841, doi. 10.1038/ejhg.2008.20

By:

Craig, Kate;
Takiyama, Yoshihisa;
Bing-Wen Soong;
Jardim, Laura B.;
Saraiva-Pereira, Maria Luiza;
Lythgow, Kieren;
Morino, Hiroyuki;
Maruyama, Hirofumi;
Kawakami, Hideshi;
Chinnery, Patrick F.

Publication type:

Article

SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547 Purchased.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 11, p. 917, doi. 10.1093/hmg/ddaf046

By:

Mergener, Rafaella;
Furtado, Gabriel Vasata;
Hasan, Ali;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.

Published in:

Journal of Neurology, 2025, v. 272, n. 4, p. 1, doi. 10.1007/s00415-025-13003-5

By:

Hasan, Ali;
Furtado, Gabriel Vasata;
Miglorini, Elaine;
Mergener, Rafaella;
Massuyama, Breno;
Barsottini, Orlando;
Pedroso, José Luiz;
Teive, Helio G.;
Saraiva-Pereira, Maria Luiza;
Ashizawa, Tetsuo;
Jardim, Laura Bannach

Publication type:

Article

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

Published in:

Journal of Neurology, 2023, v. 270, n. 9, p. 4276, doi. 10.1007/s00415-023-11763-6

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

Publication type:

Article

Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 86, doi. 10.1034/j.1399-0004.2000.580118.x

By:

Santana da Silva, Luiz Carlos;
Carvalho, Tiago Santos;
da Silva, Fernanda B.;
Flores Pires, Ricardo;
Giugliani, Roberto;
Saraiva Pereira, Maria Luiza

Publication type:

Article

Contribuição da análise molecular do gene regulador da condutância transmembrana na fibrose cística na investigação diagnóstica de pacientes com suspeita de fibrose cística leve ou doença atípica.

Published in:

Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2013, v. 39, n. 2, p. 181

By:

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

Publication type:

Article

Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder.

Published in:

Brazilian Journal of Psychiatry / Revista Brasileira de Psiquiatria, 2009, v. 31, n. 2, p. 136, doi. 10.1590/S1516-44462009000200010

By:

Tramontina, Juliana Fernandes;
Yates, Denise;
da Silva Magalhães, Pedro Vieira;
Trentini, Clarissa;
Sant'Anna, Márcia Kauer;
Fries, Gabriel Rodrigo;
Bock, Hugo;
Saraiva-Pereira, Maria Luiza;
Kapczinski, Flávio

Publication type:

Article

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 257, doi. 10.1007/s10545-010-9140-4

By:

Artigalás, Osvaldo;
Lagranha, Valeska Lizzi;
Saraiva‐Pereira, Maria Luiza;
Burin, Maira Graeff;
Lourenço, Charles Marques;
van der Linden, Jr, Hélio;
Santos, Mara Lúcia Ferreira;
Rosemberg, Sergio;
Steiner, Carlos Eduardo;
Kok, Fernando;
de Souza, Carolina F. Moura;
Jardim, Laura B.;
Giugliani, Roberto;
Schwartz, Ida Vanessa

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1296614

By:

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

Publication type:

Article

Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease.

Published in:

NeuroMolecular Medicine, 2020, v. 22, n. 1, p. 133, doi. 10.1007/s12017-019-08572-4

By:

Mergener, Rafaella;
Furtado, Gabriel Vasata;
de Mattos, Eduardo Preusser;
Leotti, Vanessa Bielefeldt;
Jardim, Laura Bannach;
Saraiva-Pereira, Maria Luiza

Publication type:

Article

Rural Environment as a Risk Factor for the Age at Onset of Machado‐Joseph Disease.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 4, p. 520, doi. 10.1002/mdc3.14338

By:

Martins, Ana Carolina;
Furtado, Gabriel Vasata;
Pinheiro, Jordânia Dos Santos;
Saraiva‐Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients.

Published in:

Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 260, doi. 10.1002/mdc3.12173

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.

Publication type:

Article

Alterations of PI3K and Akt signaling pathways in the hippocampus and hypothalamus of Wistar rats treated with highly palatable food.

Published in:

Nutritional Neuroscience, 2012, v. 15, n. 1, p. 10, doi. 10.1179/1476830511Y.0000000030

By:

Battú, Cíntia E.;
Rieger, Débora;
Loureiro, Samanta;
Furtado, Gabriel V.;
Bock, Hugo;
Saraiva-Pereira, Maria-Luiza;
Pessoa-Pureur, Regina;
Gonçalves, Carlos-Alberto;
Perry, Marcos-Luiz S.

Publication type:

Article

Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.

Published in:

Journal of Molecular Neuroscience, 2021, v. 71, n. 9, p. 1906, doi. 10.1007/s12031-021-01877-9

By:

Martins, Ana Carolina;
Rieck, Mariana;
Leotti, Vanessa Bielefeldt;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy.

Published in:

Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02762-6

By:

Weber, Jonasz J.;
Czisch, Leah;
Pereira Sena, Priscila;
Fath, Florian;
Huridou, Chrisovalantou;
Schwarz, Natasa;
Incebacak Eltemur, Rana D.;
Würth, Anna;
Weishäupl, Daniel;
Döcker, Miriam;
Blumenstock, Gunnar;
Martins, Sandra;
Sequeiros, Jorge;
Rouleau, Guy A.;
Jardim, Laura Bannach;
Saraiva-Pereira, Maria-Luiza;
França Jr., Marcondes C.;
Gordon, Carlos R.;
Zaltzman, Roy;
Cornejo-Olivas, Mario R.

Publication type:

Article

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

Published in:

PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004553

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

Publication type:

Article

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.

Published in:

RNA Biology, 2014, v. 11, n. 10, p. 1291, doi. 10.1080/15476286.2014.996085

By:

Siebert, Marina;
Westbroek, Wendy;
Chen, Yu-Chi;
Moaven, Nima;
Li, Yan;
Velayati, Arash;
Saraiva-Pereira, Maria Luiza;
Martin, Scott E;
Sidransky, Ellen

Publication type:

Article

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.

Published in:

Molecular Neurobiology, 2019, v. 56, n. 9, p. 6426, doi. 10.1007/s12035-019-1528-z

By:

Polese-Bonatto, Márcia;
Bock, Hugo;
Farias, Ana Carolina S.;
Mergener, Rafaella;
Matte, Maria Cristina;
Gil, Mirela S.;
Nepomuceno, Felipe;
Souza, Fernanda T. S.;
Gus, Rejane;
Giugliani, Roberto;
Saraiva-Pereira, Maria Luiza

Publication type:

Article

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

Published in:

International Journal of Developmental Neuroscience, 2018, v. 66, p. 18, doi. 10.1016/j.ijdevneu.2017.11.007

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

Publication type:

Article

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

Published in:

2018

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;
Rede Neurogenética

Publication type:

journal article

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.

Published in:

Jornal de Pediatria, 2011, v. 87, n. 3, p. 245, doi. 10.2223/JPED.2090

By:

Giugliani, Luciana;
Sitta, Angela;
Vargas, Carmen R.;
Santana-da-Silva, Luiz C.;
Nalin, Tatiéle;
Saraiva-Pereira, Maria Luiza;
Giugliani, Roberto;
Schwartz, Ida Vanessa D.

Publication type:

Article

Normal ATXN3 allele but not CHIP polymorphisms modulates age at onset in Machado-Joseph disease.

Published in:

Frontiers in Neurology, 2012, v. 3, p. 1, doi. 10.3389/fneur.2012.00164

By:

França, Jr., 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, Jr., Wilson;
Paulson, Henry;
Lopes-Cendes, Iscia

Publication type:

Article

Normal ATXN3 allele but not CHIP polymorphisms modulates age at onset in Machado-Joseph Disease.

Published in:

Frontiers in Neurology, 2012, v. 3, p. 1

By:

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

Publication type:

Article