M.L. Saraiva-Pereira : rechercher sur Z-Library

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1

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

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

Journal:

International Journal of Developmental Neuroscience

Année:

2018

Langue:

english

Fichier:

PDF, 538 KB

english, 2018

2

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

Eliana Marisa Ramos, Sandra Martins, Isabel Alonso, Vanessa E. Emmel, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Paula Coutinho, Jorge Sequeiros, Isabel Silveira

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 188 KB

english, 2010

3

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

Jonas Alex Morales Saute, Andrew Chaves Feitosa da Silva, Alexandre Pastoris Muller, Gisele Hansel, Alexandre Silva de Mello, Fábio Maeda, Leonardo Vedolin, Maria Luiza Saraiva-Pereira, Diogo Onofre S

Journal:

Movement Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2011

4

No major clinical impact of Val66Met BDNF gene polymorphism on temporal lobe epilepsy

José Augusto Bragatti, Laila Cigana Schenkel, Carolina Machado Torres, Gisele Gus Manfro, Carolina Blaya, Ana Claudia de Souza, Diogo Onofre Gomes de Souza, Maria Luiza Saraiva-Pereira, Laura Bannach

Journal:

Epilepsy Research

Année:

2010

Langue:

english

Fichier:

PDF, 136 KB

english, 2010

5

Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil

Silvia Liliana Cossio, Patricia Koehler-Santos, Suzana Arenhart Pessini, Heleuza Mónego, Maria Isabel Edelweiss, Luise Meurer, Abdellatif Errami, Jordy Coffa, Hugo Bock, Maria Luiza Saraiva-Pereira, P

Journal:

Familial Cancer

Année:

2010

Langue:

english

Fichier:

PDF, 468 KB

english, 2010

6

Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing

Caroline Santa Maria Rodrigues, Viviane Ziebell de Oliveira, Gabriela Camargo, Claudio Maria da Silva Osório, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Laura

Journal:

Journal of Genetic Counseling

Année:

2012

Langue:

english

Fichier:

PDF, 315 KB

english, 2012

7

In vitrocorrection of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells

Valeska Lizzi Lagranha, Guilherme Baldo, Talita Giacomet de Carvalho, Maira Burin, Maria Luiza Saraiva-Pereira, Ursula Matte, Roberto Giugliani

Journal:

Metabolic Brain Disease

Année:

2008

Langue:

english

Fichier:

PDF, 446 KB

english, 2008

8

Depressive Mood is Associated with Ataxic and Non-Ataxic Neurological Dysfunction in SCA3 Patients

Jonas Alex Morales Saute, Andrew Chaves Feitosa da Silva, Karina Carvalho Donis, Leonardo Vedolin, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 119 KB

english, 2010

9

Survival estimates for patients with Machado–Joseph disease (SCA3)

C Kieling, PR Prestes, ML Saraiva-Pereira, LB Jardim

Journal:

Clinical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 94 KB

english, 2007

10

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

VE Emmel, I Alonso, LB Jardim, ML Saraiva-Pereira, J Sequeiros

Journal:

Clinical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 610 KB

english, 2011

11

Machado-Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population

P. R. Prestes, M. L. Saraiva-Pereira, I. Silveira, J. Sequeiros, L. B. Jardim

Journal:

Annals of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 514 KB

english, 2008

12

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

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

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 375 KB

english, 2008

13

Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions

M.P. Socal, V.E. Emmel, C.R.M. Rieder, A. Hilbig, M.L. Saraiva-Pereira, L.B. Jardim

Journal:

Parkinsonism & Related Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 149 KB

english, 2009

14

Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians

Mariana P. Socal, Hugo Bock, Kristiane Michelin-Tirelli, Arlete Hilbig, Maria Luiza Saraiva-Pereira, Carlos R.M. Rieder, Laura B. Jardim

Journal:

Parkinsonism & Related Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 84 KB

english, 2009

15

Akathisia: An unusual movement disorder in Machado–Joseph disease

José Luiz Pedroso, Pedro Braga-Neto, André C. Felício, Orlando G.P. Barsottini, Laura B. Jardim, Maria Luiza Saraiva-Pereira

Journal:

Parkinsonism & Related Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 205 KB

english, 2011

16

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

M. Siebert, K.C. Donis, M. Socal, C.R.M. Rieder, V.E. Emmel, F. Vairo, K. Michelin-Tirelli, M. França Jr., A.C. D’Abreu, C. Bettencourt, M. Lima, I. Lopes Cendes, M.L. Saraiva-Pereira, L.B. Jardim

Journal:

Parkinsonism & Related Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 343 KB

english, 2012

17

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

Tatiéle Nalin, Ingrid Dalira Schweigert Perry, Angela Sitta, Carmen Regla Vargas, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Nenad Blau, Ida Vanessa Doederlein Schwartz

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 301 KB

english, 2011

18

Body Mass Index is Inversely Correlated with the Expanded CAG Repeat Length in SCA3/MJD Patients

Jonas Alex Morales Saute, Andrew Chaves Feitosa da Silva, Gabriele Nunes Souza, Aline Dutra Russo, Karina Carvalho Donis, Leonardo Vedolin, Maria Luiza Saraiva-Pereira, Luis Valmor Cruz Portela, Laura

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 182 KB

english, 2012

19

Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)

Conceição Bettencourt, Mafalda Raposo, Nadiya Kazachkova, Cristina Santos, Teresa Kay, João Vasconcelos, Patrícia Maciel, Karina C. Donis, Maria Luiza Saraiva-Pereira, Laura B. Jardim, Jorge Sequeiros

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 374 KB

english, 2012

20

Erratum to: Body Mass Index is Inversely Correlated with the Expanded CAG Repeat Length in SCA3/MJD Patients

Jonas Alex Morales Saute, Andrew Chaves Feitosa da Silva, Gabriele Nunes Souza, Aline Dutra Russo, Karina Carvalho Donis, Leonardo Vedolin, Maria Luiza Saraiva-Pereira, Luis Valmor Cruz Portela, Laura

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 139 KB

english, 2012

21

Prevalence of UGT1A1 Gene Polymorphism in Patients with Hemolytic Anemia in Southern Brazil

de Azevedo, Laura Alencastro, Santin, Ana Paula, Wagner, Sandrine Comparsi, da Fontoura Zaleski, Carina, Bock, Hugo, Saraiva-Pereira, Maria Luiza, de Castro, Simone Martins

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2011

Langue:

english

Fichier:

PDF, 176 KB

english, 2011

22

Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A

Virgens, Madza Yasodara Farias, Pol-Fachin, Laercio, Verli, Hugo, Saraiva-Pereira, Maria Luiza

Journal:

Journal of Biomolecular Structure and Dynamics

Année:

2014

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2014

23

Screening of high-risk Gaucher disease patients using dried blood spots techniques

Vairo, Filippo, Netto, Cristina, Tirelli, Kristiane Michelin, Siebert, Marina, Burin, Maira, Saraiva-Pereira, Maria Luiza, Balreira, Andrea, Sá Miranda, Maria Clara, Lukacs, Zoltan, Schwartz, Ida Vane

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 127 KB

english, 2013

24

MiRNAs and glucocerebrosidase: lessons from miRNA mimic screening

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

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 48 KB

english, 2014

25

A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network)

Souza, Fernanda, Bock, Hugo, Melo, Suelen, Bohn, Evelize, Silveira, Barbara, Brites, Adriana, Rafaelli, Célio, Burin, Maira, Michelin-Tirelli, Kristiane, Polese, Marcia, Saraiva-Pereira, Maria Luiza,

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 68 KB

english, 2013

26

Unusual movement disorders in spinocerebellar ataxias

Pedroso, José Luiz, Carvalho, Alzira Alves, Escorcio Bezerra, Marcio Luiz, Braga-Neto, Pedro, Abrahão, Agessandro, Albuquerque, Marcus Vinicius Cristino, Saraiva-Pereira, Maria Luiza, Jardim, Laura Ba

Journal:

Parkinsonism & Related Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 157 KB

english, 2013

27

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

Velho, Renata Voltolini, Alegra, Taciane, Sperb, Fernanda, Ludwig, Nataniel Floriano, Saraiva-Pereira, Maria Luiza, Matte, Ursula, Schwartz, Ida V.D.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2014

Langue:

english

Fichier:

PDF, 359 KB

english, 2014

28

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

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, I

Journal:

Movement Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 364 KB

english, 2013

29

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

Artigalás, Osvaldo, Lagranha, Valeska Lizzi, Saraiva-Pereira, Maria Luiza, Burin, Maira Graeff, Lourenço, Charles Marques, Linden, Hélio, Santos, Mara Lúcia Ferreira, Rosemberg, Sergio, Steiner, Carlo

Journal:

Journal of Inherited Metabolic Disease

Année:

2010

Langue:

english

Fichier:

PDF, 158 KB

english, 2010

30

Changes in Brain 14-3-3 Proteins in Response to Insulin Resistance Induced by a High Palatable Diet

Bock, Hugo, Zimmer, Aline Rigon, Zimmer, Eduardo Rigon, de Souza, Diogo Onofre Gomes, Portela, Luis Valmor Cruz, Saraiva-Pereira, Maria Luiza

Journal:

Molecular Neurobiology

Année:

2015

Langue:

english

Fichier:

PDF, 1021 KB

english, 2015

31

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

Pedroso, José Luiz, de Freitas, Maria Eliza Thomaz, Albuquerque, Marcus Vinicius Cristino, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Barsottini, Orlando G.P.

Journal:

Journal of the Neurological Sciences

Année:

2014

Langue:

english

Fichier:

PDF, 263 KB

english, 2014

32

High twinning rate in Candido Godoi: a new role for p53 in human fertility

Tagliani-Ribeiro, A., Paskulin, D. D., Oliveira, M., Zagonel-Oliveira, M., Longo, D., Ramallo, V., Ashton-Prolla, P., Saraiva-Pereira, M. L., Fagundes, N. J. R., Schuler-Faccini, L., Matte, U.

Journal:

Human Reproduction

Année:

2012

Langue:

english

Fichier:

PDF, 130 KB

english, 2012

33

Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease

Giugliani, Roberto, Ribas, Graziela, Civallero, Gabriel, de Souzal, Heryk Motta, Burin, Maira, Michelin-Tirelli, Kristiane, Saraiva-Pereira, Maria Luiza, Polese-Bonatto, Márcia, Gil, Mirela Severo, Ke

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 69 KB

english, 2015

34

Broad clinical and laboratory spectrum found in 9 Niemann–Pick disease type C Southern Brazilian patients

de Souza, Carolina Fischinger Moura, Donis, Karina Carvalho, Saute, Jonas, Vairo, Filippo, Timm, Fernanda, Saraiva-Pereira, Maria Luiza, Gil, Mirela, Bonato, Marcia Polese, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 51 KB

english, 2015

35

Genetic Diagnosis in Recently Transfused Patients

Mardini, Ana C., Mayer, Fabiana Q., Rodenbusch, Rodrigo, Matte, Ursula, Saraiva-Pereira, Maria L.

Journal:

Diagnostic Molecular Pathology

Année:

2013

Langue:

english

Fichier:

PDF, 288 KB

english, 2013

36

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy

Virgens, M.Y.F., Siebert, M., Bock, H., Burin, M., Giugliani, R., Saraiva-Pereira, M.L.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 679 KB

english, 2015

37

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

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, J

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 274 KB

english, 2009

38

Depressive Symptoms in Machado-Joseph Disease (SCA3) Patients and Their Relatives

Cecchin, C.R., Pires, A.P., Rieder, C.R., Monte, T.L., Silveira, I., Carvalho, T., Saraiva-Pereira, M.L., Sequeiros, J., Jardim, L.B.

Journal:

Community Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 139 KB

english, 2007

39

Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

Donis, Karina Carvalho, Mattos, Eduardo Preusser, Silva, André Anjos, Furtado, Gabriel Vasata, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Saute, Jonas Alex

Journal:

Journal of the Neurological Sciences

Année:

2015

Langue:

english

Fichier:

PDF, 344 KB

english, 2015

40

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

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.

Journal:

Nutritional Neuroscience

Année:

2012

Langue:

english

Fichier:

PDF, 325 KB

english, 2012

41

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., Matsuura, T., Ashizawa, T., Sequeiros, J., Silveira, I.

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2006

42

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group

Pedroso, José Luiz, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Braga-Neto, Pedro, Albuquerque, Marcus Vinicius Cristino, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannac

Journal:

Parkinsonism & Related Disorders

Année:

2015

Langue:

english

Fichier:

PDF, 198 KB

english, 2015

43

Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence

Donis, Karina Carvalho, Saute, Jonas Alex Morales, Krum-Santos, Ana Carolina, Furtado, Gabriel Vasata, Mattos, Eduardo Preusser, Saraiva-Pereira, Maria Luiza, Torman, Vanessa Leotti, Jardim, Laura Ban

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 511 KB

english, 2016

44

Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment

Bezerra, Marcio Luiz Escorcio, Pedroso, José Luiz, Braga-Neto, Pedro, Abrahao, Agessandro, de Albuquerque, Marcus Vinicius Cristino, Borges, Franklin Roberto Pereira, Saraiva-Pereira, Maria Luiza, Jar

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 429 KB

english, 2016

45

Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase

Pol-Fachin, Laercio, Siebert, Marina, Verli, Hugo, Saraiva-Pereira, Maria Luiza

Journal:

Glycoconjugate Journal

Année:

2016

Langue:

english

Fichier:

PDF, 695 KB

english, 2016

46

Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

Ribas, G.S., Souza, H.M., de Mari, J., Deon, M., Mescka, C., Saraiva-Pereira, M.L., Kessler, R., Trapp, F., Michelin, K., Burin, M., Vargas, C.R., Giugliani, R.

Journal:

Clinica Chimica Acta

Année:

2016

Langue:

english

Fichier:

PDF, 396 KB

english, 2016

47

Genetic aspects of Huntington's disease in Latin America. A systematic review

Castilhos, R.M., Augustin, M.C., Santos, J.A., Perandones, C., Saraiva-Pereira, M.L., Jardim, L.B.

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 383 KB

english, 2016

48

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients

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

Journal:

Movement Disorders Clinical Practice

Année:

2015

Langue:

english

Fichier:

PDF, 320 KB

english, 2015

49

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

Monte, Thais L., Reckziegel, Estela R., Augustin, Marina C., Silva, Amanda S. P., Locks-Coelho, Lucas D., Barsottini, Orlando, Pedroso, José L., Vargas, Fernando R., Saraiva-Pereira, Maria-Luiza, Leot

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 500 KB

english, 2017

50

Cancer in Machado–Joseph disease patients—low frequency as a cause of death

Souza, Gabriele Nunes, Kersting, Nathália, Gonçalves, Thomaz Abramsson, Pacheco, Daphne Louise Oliveira, Saraiva-Pereira, Maria-Luiza, Camey, Suzi Alves, Saute, Jonas Alex Morales, Jardim, Laura Banna

Journal:

Cancer Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 169 KB

english, 2017