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S

Sandra Alves

Department of Human Genetics
H指数:22
被引数:2,272

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Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II

功能性研究对于评估反义寡核苷酸介导的外显子跳跃治疗策略在黏脂贮积症II型中的应用价值

Orphanet Journal of Rare Diseases
IF3.5
2026-06-170
OAAI
Mariana Gonçalves; Marisa Encarnação; Luciana Moreira; Paulo Gaspar; Ana Joana Duarte; Maria Francisca Coutinho; Juliana Inês Santos; Maria João Prata; Maryam Omidi; Naemi Euchner; Sandra Pohl; Frederico Silva; Paula Oliveira; Liliana Matos; Sandra Alves
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
Leukocyte Imbalances in Mucopolysaccharidoses Patients
BIOMEDICINES
IF3.9
2023-06-133
OAAI
Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Mondragao-Rodrigues, Ines; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patricio; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Leao-Teles, Elisa; Giugliani, Roberto; Coutinho, Maria F. F.; Alves, Sandra; Macedo, M. Fatima
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
IF3
2023-02-014
PRE
Hammerschmidt, Tatiane Grazieli; Encarnacao, Marisa; Faverzani, Jessica Lamberty; Lopes, Franciele de Fatima; de Oliveira, Fabiano Poswar; de Sousa, Carolina Fischinger Moura; Ribeiro, Isaura; Alves, Sandra; Giugliani, Roberto; Vargas, Carmen Regla
Delivery of oligonucleotide-based therapeutics: challenges and opportunities
EMBO MOLECULAR MEDICINE
IF8.3
2021-04-06212
OAAI
Hammond, Suzan M.; Aartsma-Rus, Annemieke; Alves, Sandra; Borgos, Sven E.; Buijsen, Ronald A. M.; Collin, Rob W. J.; Covello, Giuseppina; Denti, Michela A.; Desviat, Lourdes R.; Echevarria, Lucia; Foged, Camilla; Gaina, Gisela; Garanto, Alejandro; Goyenvalle, Aurelie T.; Guzowska, Magdalena; Holodnuka, Irina; Jones, David R.; Krause, Sabine; Lehto, Taavi; Montolio, Marisol; Van Roon-Mom, Willeke; Arechavala-Gomeza, Virginia
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
HUMAN MUTATION
IF3.7
2019-04-1357
OAAI
Velho, Renata Voltolini; Harms, Frederike L.; Danyukova, Tatyana; Ludwig, Nataniel F.; Friez, Michael J.; Cathey, Sara S.; Filocamo, Mirella; Tappino, Barbara; Gunes, Nilay; Tuysuz, Beyhan; Tylee, Karen L.; Brammeier, Kathryn L.; Heptinstall, Lesley; Oussoren, Esmee; van der Ploeg, Ans T.; Petersen, Christine; Alves, Sandra; Duran Saavedra, Gloria; Schwartz, Ida V.; Muschol, Nicole; Kutsche, Kerstin; Pohl, Sandra

研究方向

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M
Maria Francisca Coutinho
H 指数:17论文数:106被引数:1,287
M
Maria João Prata
H 指数:31论文数:173被引数:3,908
M
Marisa Encarnação
H 指数:12论文数:44被引数:484
L
Liliana Matos
H 指数:8论文数:33被引数:238
J
Juliana Inês Santos
H 指数:13论文数:48被引数:599
L
Luciana Moreira
H 指数:11论文数:63被引数:407
A
António Amorim
H 指数:62论文数:596被引数:1.5万
R
Roberto Giugliani
H 指数:80论文数:1,417被引数:2.4万
I
Isaura Ribeiro
H 指数:11论文数:40被引数:698
M
Mariana Gonçalves
H 指数:5论文数:28被引数:82