| Issue Date | Title | Author(s) | Type | Access Type |
| May-2018 | Avanços no diagnóstico das doenças mitocondriais através da sequenciação de nova geração | Célia, Nogueira; Pereira, Cristina; Silva, Lisbeth; Encarnação, Marisa; Teles, Elisa Leão; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patrícia; Gaspar, Ana; Soares, Gabriela; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Santos, Helena; Vieira, Luís; Vilarinho, Laura | article |  |
| Sep-2009 | Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II | Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Bargal, Ruth; Filocammo, Mirella; RaasRothschild, A.; Tappino, Barbara; Alves, Sandra | conferenceObject |  |
| 26-Jul-2018 | Desenvolvimento de um ensaio de sequenciação de nova geração para acelerar o diagnóstico molecular das doenças lisossomais de sobrecarga | Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra | article | |
| Mar-2017 | Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases | Coutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; Ribeiro, Diogo; Alves, Sandra | conferenceObject | |
| Nov-2010 | Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous cases | Coutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, Sandra | conferenceObject | |
| 2012 | Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients | Esteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, Laura | article | |
| Jul-2009 | Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations | Encarnação, Marisa; Lacerda, Lúcia; Costa, Roberto; Prata, Maria João; Coutinho, Maria Francisca; Ribeiro, Helena; Lopes, Lurdes; Pineda, M.; Ignatius, J.; Galvez, H.; Mustonen, A.; Vieira, P.; Lima, Margarida Reis; Alves, Sandra | article | |
| Nov-2017 | Molecular Characterization of a Novel Mucopolysaccharidosis type VIcausing Mutation - Indirect Proof of Principle on its Pathogenicity | Coutinho, Maria Francisca; Encarnação, Marisa; Santos, Juliana Inês; Alves, Sandra | conferenceObject | |
| 7-Feb-2009 | Molecular characterization of the Portuguese patients with defects in GlcNAc-phosphotransferase: a key enzyme in the M6-P dependent lysosomal trafficking | Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Lacerda, Lúcia; Bargal, Ruth; Filocammo, Mirella; Raas-Rothschild; Tappino, Barbara; Laprise, Cathrine; Sirois-Gagnon, D.; Costa, Roberto; Ribeiro, Helena; Lopes, Lurdes; Alves, Sandra | conferenceObject | |
| Nov-2017 | Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing | Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, Sandra | conferenceObject | |
| Jun-2010 | Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/beta | Coutinho, Maria Francisca; Encarnação, Marisa; Lacerda, Lúcia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra | conferenceObject | |
| 21-Oct-2016 | Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta | Coutinho, Maria Francisca; Encarnação, Marisa; Laranjeira, Francisco; Lacerda, Lúcia; Prata, Maria João; Alves, Sandra | article | |
