Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Joana Damásio"'
Autor:
João Moura, Maria João Malaquias, Firmina Jorge, Eduarda Pinto, Ana Sardoeira, Inês Laranjinha, Vanessa Oliveira, Ana Paula Sousa, Joana Damásio, Luís Maia, Nuno Vila-Chã, Raquel Samões, Ricardo Taipa, Ana Martins da Silva, Ernestina Santos
Publikováno v:
Acta Médica Portuguesa (2024)
Introduction: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was t
Externí odkaz:
https://doaj.org/article/d8f283e9be9b4e39a241e4cd56a4f4af
Autor:
Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)
Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genet
Externí odkaz:
https://doaj.org/article/58585cdc8b73494895f8856cace8556b
Publikováno v:
Cells, Vol 12, Iss 7, p 1037 (2023)
Introduction: Hereditary cerebellar ataxias (HCAs) are a heterogenous group of neurodegenerative disorders associated with severe disability. Treatment options are limited and overall restricted to symptomatic approaches, leading to poor prognoses. I
Externí odkaz:
https://doaj.org/article/748d787a63314140a2cc02e1e9c26acd
Autor:
Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, José Barros, José Brás, Jorge Sequeiros, Rita Guerreiro
Publikováno v:
Cells, Vol 11, Iss 6, p 981 (2022)
Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in
Externí odkaz:
https://doaj.org/article/534e77106e9a4d248a700ba7784ccebc
Autor:
Mariana Santos, Joana Damásio, Célia Kun-Rodrigues, Clara Barbot, Jorge Sequeiros, José Brás, Isabel Alonso, Rita Guerreiro
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 4, p 1212 (2020)
Homozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination ce
Externí odkaz:
https://doaj.org/article/b7cd60c20f564cefa2d63848b5941ddd
Publikováno v:
Case Reports in Neurology, Vol 4, Iss 2, Pp 116-119 (2012)
Background: Since the mid-19th century, epistaxis and migraine have been occasionally associated with each other. Nevertheless, we found only two cases in the contemporary medical literature. Sporadic hemiplegic migraine is a subtype of migraine with
Externí odkaz:
https://doaj.org/article/bce95a28021142648ef64d40e90c4d5a
Autor:
Sara Cavaco, Alexandra Gonçalves, Alexandre Mendes, Nuno Vila-Chã, Inês Moreira, Joana Fernandes, Joana Damásio, Armando Teixeira-Pinto, António Bastos Lima
Publikováno v:
Behavioural Neurology, Vol 2015 (2015)
Introduction. A possible association between olfactory dysfunction and Parkinson’s disease (PD) severity has been a topic of contention for the past 40 years. Conflicting reports may be partially explained by procedural differences in olfactory ass
Externí odkaz:
https://doaj.org/article/a87c2632b7ec4d88a64512fafa7d4862
Autor:
Joana Damásio, Serafim Carvalho
Publikováno v:
Acta Médica Portuguesa, Vol 24 (2011)
This article reviews the current knowledge on drug-induced movement disorders (DIMD) epidemiology, pathophysiology, phenomenology and treatment. This review is justified by its high prevalence in certain medical specialties, the need to include them
Externí odkaz:
https://doaj.org/article/45e97d94afb04e099a20969b89b231d1
Autor:
Marta Francisca Corrà, Nuno Vila-Chã, Ana Sardoeira, Clint Hansen, Ana Paula Sousa, Inês Reis, Firmina Sambayeta, Joana Damásio, Margarida Calejo, Andreas Schicketmueller, Inês Laranjinha, Paula Salgado, Ricardo Taipa, Rui Magalhães, Manuel Correia, Walter Maetzler, Luís F Maia
Publikováno v:
Brain. 146:225-236
Peripheral neuropathy is a common problem in patients with Parkinson’s disease. Peripheral neuropathy’s prevalence in Parkinson’s disease varies between 4.8–55%, compared with 9% in the general population. It remains unclear whether periphera