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

by Filipa Flor-de-Lima, Liliana Macedo, Ricardo Taipa, Manuel Melo-Pires, Maria Lurdes Rodrigues
Published 2013-01-01

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

by Ana Gonçalves, Jorge Oliveira, Teresa Coelho, Ricardo Taipa, Manuel Melo-Pires, Mário Sousa, Rosário Santos
Published 2017-10-01

Peripheral neuropathy in systemic vasculitis and other autoimmune diseases – a report of five cases emphasizing the importance of etiologic characterization

by Rita Rodrigues, Mariana Branco, Renata Silva, Luís Ruano, Luís Fontão, Marta Lopes, Horácio Scigliano, Ricardo Taipa, Manuel Melo Pires, Catarina Santos
Published 2020-12-01

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

by Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge
Published 2020-12-01

A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosis

by Céline S. Gonçalves, Ana Xavier‐Magalhães, Eduarda P. Martins, Afonso A. Pinto, Manuel Melo Pires, Célia Pinheiro, Rui M. Reis, Nuno Sousa, Bruno M. Costa
Published 2020-06-01

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

by Nuno Maia, Nuno Maia, Gabriela Soares, Cecília Silva, Cecília Silva, Isabel Marques, Isabel Marques, Bárbara Rodrigues, Bárbara Rodrigues, Rosário Santos, Rosário Santos, Manuel Melo-Pires, Arjan PM de Brouwer, Teresa Temudo, Paula Jorge, Paula Jorge
Published 2020-09-01