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M

Maria Luiza Saraiva Pereira

Hospital de Clínicas de Porto Alegre
H指数:29
被引数:2,822

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荣誉奖项

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SNP rs11618521 modifies transcription factor NANOG-mediated expression of KPNA3 and the age at onset of spinocerebellar ataxia type 3

SNP rs11618521修饰转录因子NANOG介导的KPNA3表达及脊髓小脑共济失调3型的发病年龄

Acta Neuropathologica
IF9.3
2026-10-300
OAAI
Hezhou Han; Leah Czisch; Manuel Pascal Wanner; Jonasz Jeremiasz Weber; Miriam Christina Dieterle; Carolina Alexandra Licia Schroeder; Pengfei Qi; Junbo Zhou; Jaqueline Jung; Wenxu Zheng; Fubo Cheng; Priscila Pereira Sena; Florian Fath; Gunnar Blumenstock; Carlos R. Gordon; Roy Zaltzman; Marcondes C. França; Maria-Luiza Saraiva-Pereira; Laura Bannach Jardim; Mario R. Cornejo-Olivas; Peter Bauer; Ludger Schöls; Bart P. C. van de Warrenburg; Alexandra Durr; Alexis Brice; Thomas Klockgether; Olaf Riess; Thorsten Schmidt
The p.Ala1035Val variant in Niemann–Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect

Niemann–Pick C1型病中的p.Ala1035Val变异：巴西和葡萄牙患者的临床及分子特征表明存在共同的奠基者效应

Molecular Genetics and Metabolism
IF3.5
2026-04-010
PRE
Ana Paula Alegretti; Tatiane Hammerschmidt; Isaura Ribeiro; Dulce Quelhas; Márcia Polese-Bonatto; Maria Luiza Saraiva-Pereira; Esmeralda Martins; Roberto Giugliani; Marisa Encarnação; Sandra Alves; Carmen Regla Vargas
Proteostasis disruption and lipid dyshomeostasis in neurodegeneration: exploring common druggable targets across sporadic and monogenic disorders

神经退行性疾病中的蛋白质稳态紊乱和脂质稳态失衡：探索散发性与单基因遗传性疾病中的共同可药物靶点

Frontiers in Molecular Neuroscience
IF3.8
2025-10-240
OAAI
Priscila Pereira Sena; Lea Friedrich; Alcibiades Villarreal; Florian Fath; Liubovi Sopco; Mar Hernández-Guillamon; Maria Luiza Saraiva-Pereira; Gabrielle Britton; Jonasz Jeremiasz Weber; Thorsten Schmidt
Pan-cancer homologous recombination deficiency (HRD) evaluation in patients enrolled in a routine molecular screening program

泛癌种同源重组缺陷（HRD）在参与常规分子筛查项目的患者中的评估

ANNALS OF ONCOLOGY
IF65.4
2024-09-010
PRE
Romero-Lozano, P.; Hernando Calvo, A.; Castillo, E.; Lo Giacco, D. G.; Vila-Casadesus, M.; Gomez, M.; Buono, G.; Bach, V.; Pereira, M.; Onieva, A.; Martin, A.; Matito, J.; Nuciforo, P. G.; Garralda, E.; Felip, E.; Saura Manich, C.; Galceran, J. C.; Garcia Duran, C.; Tabernero, J.; Vivancos, A.
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
ACTA NEUROPATHOLOGICA
IF9.3
2024-08-010
OAAI
Weber, Jonasz J.; Czisch, Leah; Sena, Priscila Pereira; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Eltemur, Rana D. Incebacak; Wuerth, Anna; Weishaeupl, Daniel; Doecker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; Franca Jr, Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schoels, Ludger; Riess, Olaf; Schmidt, Thorsten
Spinocerebellar ataxia type 2 has multiple ancestral origins
PARKINSONISM & RELATED DISORDERS
IF3.4
2024-03-010
OAAI
Sena, Lucas Schenatto; Furtado, Gabriel Vasata; Pedroso, Jose Luiz; Barsottini, Orlando; Cornejo-Olivas, Mario; Nobrega, Paulo Ribeiro; Neto, Pedro Braga; Soares, Danyela Martins Bezerra; Vargas, Fernando Regla; Godeiro, Clecio; Medeiros, Paula Frassinetti Vasconcelos de; Camejo, Claudia; Toralles, Maria Betania Pereira; Fagundes, Nelson Jurandi Rosa; Jardim, Laura Bannach; Saraiva-Pereira, Maria Luiza
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

通过全外显子组测序鉴定的新型machado-joseph疾病修饰基因和途径

NEUROBIOLOGY OF DISEASE
IF5.6
2022-01-018
OAAI
Raposo, Mafalda; Bettencourt, Conceicao; Melo, Ana Rosa Vieira; Ferreira, Ana F.; Alonso, Isabel; Silva, Paulo; Vasconcelos, Joao; Kay, Teresa; Saraiva-Pereira, Maria Luiza; Costa, Marta D.; Vilasboas-Campos, Daniela; Bettencourt, Bruno Filipe; Bruges-Armas, Jacome; Houlden, Henry; Heutink, Peter; Jardim, Laura Bannach; Sequeiros, Jorge; Maciel, Patricia; Lima, Manuela
DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
PARKINSONISM & RELATED DISORDERS
IF3.4
2021-11-012
PREAI
Pinto, Wladimir Bocca Vieira de Rezende; Saloma, Rubens Paulo Araujo; Bergamsco, Nathlia Carbral; Ribas, Gustavo da Cunha; Graca, Felipe Franco da; Lopez-Cendes, Iscia; Bonadia, Luciana; Souza, Paulo Victor Sgobbi de; Oliveira, Acary Souza Bulle; Saraiva-Perira, Maria Luiza; Jardin, Laura Bannach; Tumas, Vitor; Marques Jr, Wilson; Franca Jr, Marcondes C.; Pedroso, Jose Luiz; Barsottini, Orlando G. P.; Teive, Helio A. G.
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
NEUROLOGY-GENETICS
IF3.7
2020-10-0535
OAAI
Mendonca, Rodrigo de Holanda; Matsui Jr, Ciro; Polido, Graziela Jorge; Serafim Silva, Andre Macedo; Kulikowski, Leslie; Dias, Alexandre Torchio; Zanardo, Evelin Aline; Fontoura Solla, Davi Jorge; Gurgel-Giannetti, Juliana; Monteiro Lessa de Moura, Ana Carolina; Campolina Sampaio, Gabriela Palhares; Bulle Oliveira, Acary Souza; Sgobbi de Souza, Paulo Victor; Vieira de Rezende Pinto, Wladimir Bocca; Goncalves, Eduardo Augusto; Farias, Igor Braga; Nardes, Flavia; de Queiroz Campos Araujo, Alexandra Prufer; Marques Jr, Wilson; Tomaselli, Pedro Jose; Ospedale Ribeiro, Mara Dell; Kitajima, Joao Paulo; Monteiro, Fabiola Paoli; Morales Saute, Jonas Alex; Becker, Michele Michelin; Saraiva-Pereira, Maria Luiza; Brusius-Facchin, Ana Carolina; van der Linden, Vanessa; Florencio, Rodrigo Neves; Soares Barbosa, Andre Vinicius; Machado-Costa, Marcela Camara; Santos Pessoa, Andre Luiz; Souza, Leticia Silva; Franca Jr, Marcondes Cavalcante; Kok, Fernando; Reed, Umbertina Conti; Zanoteli, Edmar
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

全基因组关联研究确定了改变machado-joseph病发病年龄的遗传因素

AGING-US
IF3.9
2020-03-2315
OAAI
Akcimen, Fulya; Martins, Sandra; Liao, Calwing; Bourassa, Cynthia, V; Catoire, Helene; Nicholson, Garth A.; Riess, Olaf; Raposo, Mafalda; Franca, Marcondes C.; Vasconcelos, Joao; Lima, Manuela; Lopes-Cendes, Iscia; Saraiva-Pereira, Maria Luiza; Jardim, Laura B.; Sequeiros, Jorge; Dion, Patrick A.; Rouleau, Guy A.

研究方向

暂未获取到该数据
L
Laura Bannach Jardim
H 指数:39论文数:330被引数:5,543
R
Roberto Giugliani
H 指数:80论文数:1,417被引数:2.4万
O
Orlando Graziani Póvoas Barsottini
H 指数:34论文数:507被引数:5,855
J
José Luiz Pedroso
H 指数:32论文数:483被引数:4,934
J
Jonas Alex Morales Saute
H 指数:35论文数:232被引数:3,013
G
Gabriel Vasata Furtado
H 指数:18论文数:92被引数:964
M
Marcondes C. França
H 指数:40论文数:510被引数:5,605
K
Karina Carvalho Donis
H 指数:19论文数:99被引数:968
C
Carlos Roberto de Mello Rieder
H 指数:38论文数:289被引数:4,848
H
Hugo Bock
H 指数:14论文数:86被引数:396