Clinico-Pathological Correlations of the Most Common Neurodegenerative Dementias

por Taipa, Ricardo, Pinho, João, Melo-Pires, Manuel
Publicado 2012

Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report

por Flor-de-Lima, Filipa, Macedo, Liliana, Taipa, Ricardo, Melo-Pires, Manuel, Rodrigues, Maria Lurdes
Publicado 2013

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

por Gonçalves, Ana, Oliveira, Jorge, Coelho, Teresa, Taipa, Ricardo, Melo-Pires, Manuel, Sousa, Mário, Santos, Rosário
Publicado 2017

Intellectual disability genomics: current state, pitfalls and future challenges

por Maia, Nuno, Nabais Sá, Maria João, Melo-Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Publicado 2021

Clinicopathological correlations of sural nerve biopsies in TTR Val30Met familial amyloid polyneuropathy

por Fernandes, Armindo, Coelho, Teresa, Rodrigues, Aurora, Felgueiras, Helena, Oliveira, Pedro, Guimarães, António, Melo-Pires, Manuel, Taipa, Ricardo
Publicado 2019

Neuropathology of central nervous system involvement in TTR amyloidosis

por Taipa, Ricardo, Sousa, Luísa, Pinto, Miguel, Reis, Inês, Rodrigues, Aurora, Oliveira, Pedro, Melo-Pires, Manuel, Coelho, Teresa
Publicado 2022

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

por Maia, Nuno, Soares, Gabriela, Silva, Cecília, Marques, Isabel, Rodrigues, Bárbara, Santos, Rosário, Melo-Pires, Manuel, de Brouwer, Arjan PM, Temudo, Teresa, Jorge, Paula
Publicado 2020

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

por Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Publicado 2020