Letter to the Editor on “Copathology in Progressive Supranuclear Palsy: Does It Matter?”
Videira, Gonçalo, Damásio, Joana, Pinto, Catarina, Melo‐Pires, Manuel, Taipa, Ricardo
Published in Movement disorders (01.11.2020)
Published in Movement disorders (01.11.2020)
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Journal Article
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes
Oliveira, Jorge, Gruber, Angela, Cardoso, Márcio, Taipa, Ricardo, Fineza, Isabel, Gonçalves, Ana, Laner, Andreas, Winder, Thomas L., Schroeder, Jocelyn, Rath, Julie, Oliveira, Márcia E., Vieira, Emília, Sousa, Ana Paula, Vieira, José Pedro, Lourenço, Teresa, Almendra, Luciano, Negrão, Luís, Santos, Manuela, Melo‐Pires, Manuel, Coelho, Teresa, den Dunnen, Johan T., Santos, Rosário, Sousa, Mário
Published in Human mutation (01.10.2018)
Published in Human mutation (01.10.2018)
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Journal Article
Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
Cruz, Simão, Taipa, Ricardo, Nogueira, Célia, Pereira, Cristina, Almeida, Lígia S., Neiva, Raquel, Geraldes, Tiago, Guimarães, António, Melo‐Pires, Manuel, Vilarinho, Laura
Published in Muscle & nerve (01.11.2017)
Published in Muscle & nerve (01.11.2017)
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Journal Article
The etiology of spontaneous intracerebralhemorrhage: Insights from a neuropathological series
Ruano, Luis, Branco, Mariana, Samões, Raquel, Taipa, Ricardo, Melo Pires, Manuel
Published in Clinical neuropathology (01.01.2018)
Published in Clinical neuropathology (01.01.2018)
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Journal Article
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing
Oliveira, Jorge, Negrão, Luís, Fineza, Isabel, Taipa, Ricardo, Melo-Pires, Manuel, Fortuna, Ana Maria, Gonçalves, Ana Rita, Froufe, Hugo, Egas, Conceição, Santos, Rosário, Sousa, Mário
Published in Journal of human genetics (01.06.2015)
Published in Journal of human genetics (01.06.2015)
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Journal Article
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies
Oliveira, Jorge, Gonçalves, Ana, Taipa, Ricardo, Melo-Pires, Manuel, Oliveira, Márcia E, Costa, José Luís, Machado, José Carlos, Medeiros, Elmira, Coelho, Teresa, Santos, Manuela, Santos, Rosário, Sousa, Mário
Published in Journal of human genetics (01.06.2016)
Published in Journal of human genetics (01.06.2016)
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Journal Article
Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Published in Clinical case reports (01.12.2020)
Published in Clinical case reports (01.12.2020)
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Journal Article
Ryanodine Myopathies Without Central Cores—Clinical, Histopathologic, and Genetic Description of Three Cases
Rocha, João, MD, Taipa, Ricardo, MD, Melo Pires, Manuel, PhD, Oliveira, Jorge, MSc, Santos, Rosário, MSc, Santos, Manuela, MD
Published in Pediatric neurology (01.08.2014)
Published in Pediatric neurology (01.08.2014)
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Journal Article
Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations
Calejo, Margarida, Vilarinho, Laura, Neiva, Raquel, Botelho, Luís, Ramalheira, João, Taipa, Ricardo, Melo‐Pires, Manuel, Lima, António Bastos, Damásio, Joana
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2018)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2018)
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Journal Article
Intellectual disability genomics: current state, pitfalls and future challenges
Maia, Nuno, Nabais Sá, Maria João, Melo-Pires, Manuel, de Brouwer, Arjan P M, Jorge, Paula
Published in BMC genomics (20.12.2021)
Published in BMC genomics (20.12.2021)
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Journal Article
Neuropathology of central nervous system involvement in TTR amyloidosis
Taipa, Ricardo, Sousa, Luísa, Pinto, Miguel, Reis, Inês, Rodrigues, Aurora, Oliveira, Pedro, Melo-Pires, Manuel, Coelho, Teresa
Published in Acta neuropathologica (01.01.2023)
Published in Acta neuropathologica (01.01.2023)
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Journal Article
Brain biopsy in suspected non-neoplastic neurological disease
Noronha, Carolina, Figueiredo, Gonçalo, Pinheiro, Célia, Carvalho, Ernesto, Calheiros, Alfredo, Pires, Manuel Melo, Taipa, Ricardo
Published in Acta neurochirurgica (01.06.2019)
Published in Acta neurochirurgica (01.06.2019)
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Journal Article
A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosis
Gonçalves, Céline S., Xavier‐Magalhães, Ana, Martins, Eduarda P., Pinto, Afonso A., Pires, Manuel Melo, Pinheiro, Célia, Reis, Rui M., Sousa, Nuno, Costa, Bruno M.
Published in Molecular oncology (01.06.2020)
Published in Molecular oncology (01.06.2020)
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Journal Article
Patterns of Microglial Cell Activation in Alzheimer Disease and Frontotemporal Lobar Degeneration
Taipa, Ricardo, Brochado, Paulo, Robinson, Andrew, Reis, Inês, Costa, Patrício, Mann, David M, Melo Pires, Manuel, Sousa, Nuno
Published in Neuro-degenerative diseases (01.01.2017)
Published in Neuro-degenerative diseases (01.01.2017)
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Journal Article
Amyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome
Samões, Raquel, Taipa, Ricardo, Valdrez, Kátia, Gonçalves, Isabel, Melo Pires, Manuel, Martins da Silva, Ana, Coelho, Teresa
Published in Amyloid (03.04.2017)
Published in Amyloid (03.04.2017)
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Journal Article
Acute hemorrhagic leukoencephalitis with severe brainstem and spinal cord involvement: MRI features with neuropathological confirmation
Pinto, Pedro S., Taipa, Ricardo, Moreira, Bruno, Correia, Carlos, Melo-Pires, Manuel
Published in Journal of magnetic resonance imaging (01.04.2011)
Published in Journal of magnetic resonance imaging (01.04.2011)
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Journal Article
CADASIL: MRI may be normal in the fourth decade of life – a case report
Samões, Raquel, Alves, José Eduardo, Taipa, Ricardo, Silva, João, Melo Pires, Manuel, Pereira-Monteiro, José Maria
Published in Cephalalgia (01.10.2016)
Published in Cephalalgia (01.10.2016)
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Journal Article
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
Maia, Nuno, Soares, Gabriela, Silva, Cecília, Marques, Isabel, Rodrigues, Bárbara, Santos, Rosário, Melo-Pires, Manuel, de Brouwer, Arjan PM, Temudo, Teresa, Jorge, Paula
Published in Frontiers in genetics (24.09.2020)
Published in Frontiers in genetics (24.09.2020)
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Journal Article