The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

por MACHADO, RITA, PINTO-BASTO, JORGE, NEGRÃO, LUÍS
Publicado 2019

Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland

por MARTINS, ANA INÊS, LAGES, ADRIANA, REBELO, OLINDA, NEGRÃO, LUÍS
Publicado 2019

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

por Negrão, Luís, Machado, Rita, Lourenço, Miguel, Fernandez-Marmiesse, Ana, Rebelo, Olinda
Publicado 2020

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families

por NEGRÃO, LUÍS, ALMENDRA, LUCIANO, RIBEIRO, JOANA, MATOS, ANABELA, GERALDO, ARGEMIRO, PINTO-BASTO, JORGE
Publicado 2014

A 6-month trial of memantine for nystagmus and associated phenomena in oculopalatal tremor

por Martins, Ana Inês, Soares-dos-Reis, Ricardo, Jorge, André, Duque, Cristina, Pereira, Daniela Jardim, Fontes Ribeiro, Carlos, Sargento-Freitas, João, Matos, Anabela, Negrão, Luís, Lemos, João
Publicado 2022

Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax

por Sousa, Inês, Abrantes, Patrícia, Francisco, Vânia, Teixeira, Gilberto, Monteiro, Marta, Neves, João, Norte, Ana, Robalo Cordeiro, Carlos, Moura e Sá, João, Reis, Ernestina, Santos, Patrícia, Oliveira, Manuela, Sousa, Susana, Fradinho, Marta, Malheiro, Filipa, Negrão, Luís, Feijó, Salvato, Oliveira, Sofia A.
Publicado 2016

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

por Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz
Publicado 2022