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M

Mafalda Raposo

i3s instituto de investigacao e inovacao em saude
H指数:17
被引数:1,024

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Single-nucleotide polymorphism–directed design of allele-specific antisense oligonucleotides for spinocerebellar ataxia type 3

单核苷酸多态性指导下的脊髓小脑共济失调3型等位基因特异性反义寡核苷酸设计

Science Translational Medicine
IF14.6
2026-10-210
PRE
Jacob Helm; Elena Buena-Atienza; Clemens M. Sauter; Linus Wiora; Melanie Kraft; Yvonne Schelling; Jakob Admard; Jeannette Hübener-Schmid; Thomas Klockgether; Matthis Synofzik; Luís Pereira de Almeida; Mafalda Raposo; Paola Giunti; Hector Garcia-Moreno; Magda M. Santana; Jennifer Faber; Holger Hengel; Nicolas Casadei; Ludger Schöls; Stefan Hauser
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort

脊髓小脑共济失调3型突变携带者在ESMI队列中的用药模式

CNS Drugs
IF7.4
2025-10-170
OA
Patrick Silva; Marina A. Costa; Laetitia Gaspar; João Durães; Inês Cunha; Joana A Ribeiro; Cristina Januário; Bárbara Oliveiros; Jeannette Hübener-Schmid; Jennifer Faber; Mafalda Raposo; Manuela Lima; Hector Garcia-Moreno; Paola Giunti; Lukas Beichert; Ludger Schöls; Bart P. van de Warrenburg; Jeroen de Vries; Andreas Thieme; Kathrin Reetz; Heike Jacobi; Jon Infante; Thomas Klockgether; Luís Pereira de Almeida; Magda M. Santana
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
Journal of Neurology
IF4.6
2024-12-120
OAAI
Tim Lukas Elter; Daniel Sturm; Magda M. Santana; Tamara Schaprian; Mafalda Raposo; Ana Rosa Vieira Melo; Manuela Lima; Berkan Koyak; Demet Oender; Marcus Grobe-Einsler; Sara Lopes; Patrick Silva; Luís Pereira de Almeida; Paola Giunti; Hector Garcia-Moreno; Suran Nethisinhe; Jeroen de Vries; Bart P. van de Warrenburg; Judith van Gaalen; Matthis Synofzik; Ludger Schöls; Kathrin Reetz; Friedrich Erdlenbruch; Heike Jacobi; Jon Infante; Olaf Riess; Thomas Klockgether; Jennifer Faber; Jeannette Hübener-Schmid
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
NEUROBIOLOGY OF DISEASE
IF5.6
2024-04-010
OAAI
Raposo, Mafalda; Huebener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Melo, Ana Rosa Vieira; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Garcia-Moreno, Hector; Giunti, Paola; Santana, Magda M.; de Almeida, Luis Pereira; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schoels, Ludger; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela
Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3

牛磺熊去氧胆酸在脊髓小脑共济失调3型临床前模型中的糖皮质激素受体依赖性治疗效果

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2024-03-015
OAAI
Duarte-Silva, Sara; Silva, Jorge Diogo Da; Monteiro-Fernandes, Daniela; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana S.; Nogueira-Goncalves, Goncalo; Fernandes, Henrique S.; Oliveira, Stephanie; Ferreira-Fernandes, Ana Rita; Rodrigues, Fernando; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Guerreiro, Sara; Campos, Jonas; Meireles-Costa, Liliana; Rodrigues, Cecilia M. P.; Cabantous, Stephanie; Sousa, Sergio F.; Lima, Manuela; Teixeira-Castro, Andreia; Maciel, Patricia
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

脊髓小脑性共济失调3型的阶段依赖性生物标志物变化

ANNALS OF NEUROLOGY
IF7.7
2023-12-058
OAAI
Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener-Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe-Einsler, Marcus; Onder, Demet; Koyak, Berkan; Giunti, Paola; Garcia-Moreno, Hector; Gonzalez-Robles, Cristina; Lima, Manuela; Raposo, Mafalda; Melo, Ana Rosa Vieira; de Almeida, Luis Pereira; Silva, Patrick; Pinto, Maria M.; van de Warrenburg, Bart P.; van Gaalen, Judith; de Vries, Jeroen; Oz, Gulin; Joers, James M.; Synofzik, Matthis; Schols, Ludger; Riess, Olaf; Infante, Jon; Manrique, Leire; Timmann, Dagmar; Thieme, Andreas; Jacobi, Heike; Reetz, Kathrin; Dogan, Imis; Onyike, Chiadikaobi; Povazan, Michal; Schmahmann, Jeremy; Ratai, Eva-Maria; Schmid, Matthias; Klockgether, Thomas
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3

血液转录组测序确定能够跟踪脊髓小脑性共济失调3型疾病阶段的生物标志物

BRAIN
IF11.7
2023-04-184
OA
Raposo, Mafalda; Huebener-Schmid, Jeannette; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Garcia-Moreno, Hector; Giunti, Paola; Santana, Magda M.; de Almeida, Luis Pereira; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schols, Ludger; Riess, Olaf; Lima, Manuela
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

用于共济失调生物标志物研究的血液和脑脊液收集和处理的标准化协议

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2023-03-292
OAAI
Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick; Adao, Diana; Pereira, Dina; Ribeiro, Joana Afonso; Cunha, Ines; Huebener-Schmid, Jeannette; Raposo, Mafalda F.; Ferreira, Ana F.; Faber, Jennifer; Kuhs, Sandra; Garcia-Moreno, Hector; Reetz, Kathrin; Thieme, Andreas; Infante, Jon; van de Warrenburg, Bart P. C.; Giunti, Paola; Riess, Olaf; Schoels, Ludger; Lima, Manuela; Klockgether, Thomas; Januario, Cristina; de Almeida, Luis Pereira
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
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

多谷氨酰胺扩展Ataxin-3: 外周血中脊髓小脑性共济失调3型的目标参与标志物

MOVEMENT DISORDERS
IF7.6
2021-08-1615
OAAI
Huebener-Schmid, Jeannette; Kuhlbrodt, Kirsten; Peladan, Julien; Faber, Jennifer; Santana, Magda M.; Hengel, Holger; Jacobi, Heike; Reetz, Kathrin; Garcia-Moreno, Hector; Raposo, Mafalda; van Gaalen, Judith; Infante, Jon; Steiner, Katharina M.; de Vries, Jeroen; Verbeek, Marcel M.; Giunti, Paola; Pereira de Almeida, Luis; Lima, Manuela; van de Warrenburg, Bart; Schoels, Ludger; Klockgether, Thomas; Synofzik, Matthis; Riess, Olaf
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.
DNA REPAIR PATHWAYS AS A COMMON GENETIC MECHANISM MODULATING THE AGE AT ONSET IN POLYGLUTAMINE DISEASES
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2016-09-130
PREAI
Bettencourt, Conceicao; Moss, Davina Hensman; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas-Gomez, Petra; Esmeralda Garcia-Velazquez, Lizbeth; Elisa Alonso-Vilatela, Maria; Lima, Manuela; Raposo, Mafalda; Traynor, Bryan; Sweeney, Mary; Wood, Nicholas; Giunti, Paola; Durr, Alexandra; Holmans, Peter; Houlden, Henry; Tabrizi, Sarah J.; Jones, Lesley

研究方向

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M
Manuela Lima
H 指数:26论文数:174被引数:2,468
P
Paola Giunti
H 指数:68论文数:348被引数:1.5万
J
João Vasconcelos
H 指数:14论文数:77被引数:486
T
Teresa Kay
H 指数:15论文数:60被引数:619
L
Lüdger Schöls
H 指数:98论文数:1,028被引数:3.7万
J
Jennifer Faber
H 指数:27论文数:138被引数:2,265
C
Conceição Bettencourt
H 指数:33论文数:154被引数:3,751
J
Jeannette Hübener‐Schmid
H 指数:21论文数:75被引数:1,464
L
Luís Pereira de Almeida
H 指数:51论文数:243被引数:1.0万
H
Héctor García‐Moreno
H 指数:17论文数:67被引数:943