Results 71 to 80 of about 5,061 (184)
Cognitive Changes in Pre‐ataxic Spinocerebellar Ataxias: A Scoping Review
Movement Disorders Clinical Practice, Volume 12, Issue 12, Page 2071-2079, December 2025.Abstract Background
Although traditionally recognized for motor impairment, evidence suggests that cognitive deficits may emerge before ataxia onset in autosomal dominant spinocerebellar ataxias (SCA), particularly in nucleotide repeat expansion SCAs (NRE‐SCAs).Renata Barreto Tenorio, Andressa Aline Vieira, Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo +3 morewiley +1 more sourceFrom Yeast to Therapeutics: Modeling Neurodegenerative Diseases in Saccharomyces cerevisiae
Yeast, Volume 42, Issue 12, Page 283-302, December 2025.Yeast plasmids expressing human Aβ‐42, α‐syn, htt, and TDP‐43. Their fate includes an equilibrium between the endocytic pathway and aggregates that potentially disrupt endocytosis, vesicular transport, vacuolar autophagy, and mitochondrial activity. ABSTRACT
Here, we review the use of Saccharomyces cerevisiae as a powerful model organism for studying ...Jose Ribamar Ferreira‐Junior, Vittoria de Lima Camandona, Mario H. Barros +2 morewiley +1 more sourceParkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
BMC Neurology, 2011 Background Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene.Vasconcelos João, Rizzu Patrizia, Coutinho Paula, Santos Cristina, Bettencourt Conceição, Kay Teresa, Cymbron Teresa, Raposo Mafalda, Heutink Peter, Lima Manuela +9 moredoaj +1 more sourceMachado-Joseph Disease/Spinocerebellar Ataxia Type 3 [PDF]
, 2006 Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable openaire +2 more sourcesIndividual and combined effects of chemical and mechanical power on postoperative pulmonary complications: a secondary analysis of the REPEAT study
Anaesthesia, Volume 80, Issue 12, Page 1510-1518, December 2025.Summary Introduction
Intra‐operative supplemental oxygen and mechanical ventilation expose the lungs to potentially injurious energy. This can be quantified as ‘chemical power’ and ‘mechanical power’, respectively. In this study, we sought to determine if intra‐operative chemical and mechanical power, individually and/or in combination, are associated ...Lukas M. Müller‐Wirtz, Thijs A. Lilien, William M. Patterson, Sascha Ott, Roland C. E. Francis, Marcelo Gama de Abreu, Ary Serpa Neto, Reinout A. Bem, David M. P. van Meenen, Marcus J. Schultz, for the REPEAT investigators, Sabrine N. T. Hemmes, Paolo Severgnini, Markus W. Hollmann, Jan M. Binnekade, Hermann Wrigge, Jaume Canet, Michael Hiesmayr, Werner Schmid, Edda Tschernko, Samir Jaber, Göran Hedenstierna, Christian Putensen, Paolo Pelosi, Agnes Marti, Alessandro Bacuzzi, Alexander Brodhun, Alexandre Molin, Alfred Merten, Ana Parera, Andrea Brunelli, Andrea Cortegiani, Andreas Güldner, Andreas W. Reske, Angelo Gratarola, Antonino Giarratano, Bea Bastin, Bjorn Heyse, Branka Mazul‐Sunko, Bruno Amantea, Bruno Barberis, Christopher Uhlig, Conrado Minguez Marín, Cristian Celentano, Daniela La Bella, David D’Antini, David Velghe, Demet Sulemanji, Edoardo De Robertis, Eric Hartmann, Francesca Montalto, Francesco Tropea, Gary H. Mills, Gilda Cinnella, Giorgio Della Rocca, Girolamo Caggianelli, Giulia Pellerano, Giuseppina Mollica, Guillermo Bugedo, Jan‐Paul Mulier, Jeroen Vandenbrande, Johann Geib, Jonathan Yaqub, Jorge Florez, Juan F. Mayoral, Juraj Sprung, Jurgen Van Limmen, Lieuwe D. J. Bos, Luc de Baerdemaeker, Luc Jamaer, Luigi Spagnolo, Lydia Strys, Manuel Granell Gil, Marcos F. Vidal Melo, Maria Carmen Unzueta, Maria Victoria Moral, Marion Ferner, Martin Weiss, Massimo Vanoni, Maximilian S. Schaefer, Mercè Prieto, Michele Grio, Peter Markus Spieth, Philipp Simon, Phoebe Bodger, Pilar Sierra, Rita Laufenberg‐Feldmann, Roberta Rusca, Rodolfo Proietti, Santi Maurizio Raineri, Santo Caroleo, Sergi Sabaté, Stefan De Hert, Stefano Pezzato, Tanja A. Treschan, Tatjana Goranovic, Thea Koch, Thomas Bluth, Thomas Kiss, Valter Perilli, Virginia Cegarra, Carlos Ferrando, Javier Belda, Marina Soro, Carmen Unzueta, Fernando Suarez‐Sipmann, Julián Librero, Alicia Llombart, Lucas Rovira, Manuel Granell, César Aldecoa, Oscar Diaz‐Cambronero, Jaume Balust, Ignacio Garutti, Rafael Gonzalez, Lucia Gallego, Santiago Garcia del Valle, Javier Redondo, David Pestaña, Aurelio Rodríguez, Javier García, Manuel de la Matta, Maite Ibáñez, Francisco Barrios, Samuel Hernández, Vicente Torres, Salvador Peiró, Natividad Pozo, Abigail Villena, Albert Carramiñana, Alberto Gallego‐Casilda, Alejandro Duca, Amalia Alcón, Amanda Miñana, Ana Asensio, Ana Colás, Ana Isabel Galve, Ana Izquierdo, Ana Jurado, Ana María Pérez, Ana Mugarra, Andrea Gutierrez, Ángeles De Miguel, Angels Lozano, Antonio Katime, Antonio Romero, Beatriz Garrigues, Begoña Ayas, Blanca Arocas, Carlos Delgado, Carmen Fernández, Carolina Romero, Clara Gallego, Cristina Garcés, Cristina Lisbona, Cristina Parrilla, Daniel López‐Herrera, Domingo González, Eduardo Llamazares, Elena Del Rio, Elena Lozano, Ernesto Pastor, Estefanía Chamorro, Estefanía Gracia, Ester Sánchez, Esther Romero, Fernando Díez, Ferran Serralta, Francisco Daviu, Francisco Sandín, Gerardo Aguilar, Gerardo Tusman, Gonzalo Azparren, Graciela Martínez‐Pallí, Guido Mazzinari, Inmaculada Benítez, Inmaculada Hernandéz, Inmaculada India, Irene León, Isabel Fuentes, Isabel Ruiz, Jaume Puig, Javie Ignacio Román, Jesús Acosta, Jesús Rico‐Feijoo, Jonathan Olmedo, Jose A. Carbonell, Jose M. Alonso, Jose María Pérez, Jose Miguel Marcos, Jose Navarro, Jose Valdivia, Juan Carrizo, Laura Piqueras, Laura Soriano, Laura Vaquero, Lisset Miguel, Lorena Muñoz, Lucia Valencia, Luis Olmedilla, Ma Justina Etulain, Manuel Tisner, María Barrio, María Dolores Alonso, María García, María J. Hernández, María José Alberola, María Parra, María Pilar Argente, María Vila, Mario De Fez, Marta Agilaga, Marta Gine, Mercedes Ayuso, Mercedes García, Natalia Bejarano, Natalia Peña, Nazario Ojeda, Nilda Martínez, Nuria García, Oto Padrón, Pablo García, Paola Valls, Patricia Cruz, Patricia Piñeiro, Pedro Charco, Rafael Anaya, Ramiro López, Rayco Rodríguez, Rocío Martínez, Roger Pujol, Rosa Dosdá, Rosa Lardies, Ruben Díaz, Rubén Villazala, Sara Zapatero, Sergio Cabrera, Sergio Sánchez, Silvia Martin, Suzana Diaz, Tania Franco, Tania Moreno, Tania Socorro, Vicente Gilabert, Victor Balandrón, Victoria Moral, Virgina Cegarra, Viviana Varón, Ilona Bobek, Cesare Gregoretti, John Laffey, Marc‐Joseph Licker, Klaus Markstaller, Idit Matot, Jan Paul Mulier, Rolf Rossaint, Jochen Schmitt, Mert Senturk, Fernando Abelha, Sühayla Abitağaoğlu, Marc Achilles, Afeez Adebesin, Ine Adriaensens, Charles Ahene, Fatima Akbar, Mohammed Al Harbi, Rita Al Khoury al Kallab, Xavier Albanel, Florence Aldenkortt, Rawan Abdullah Saleh Alfouzan, Reef Alruqaie, Fernando Altermatt, Bruno Luís de Castro Araujo, Genaro Arbesú, Hanna Artsi, Caterina Aurilio, Omer Hilmi Ayanoglu, Harris Baig, Yolanda Baird, Konstantin Balonov, Samantha Banks, Xiaodong Bao, Mélanie Baumgartner, Isabel Belda Tortosa, Alice Bergamaschi, Lars Bergmann, Luca Bigatello, Elena Biosca Pérez, Katja Birr, Elird Bojaxhi, Chiara Bonenti, Iwona Bonney, Elke M.E. Bos, Sara Bowman, Leandro Gobbo Braz, Elisa Brugnoni, Sorin J Brull, Iole Brunetti, Andrea Bruni, Shonie L. Buenvenida, Cornelius Johannes Busch, Giovanni Camerini, Beatrice Capatti, Javiera Carmona, Jaime Carungcong, Marta Carvalho, Anat Cattan, Carla Cavaleiro, Davide Chiumello, Stefano Ciardo, Mark Coburn, Umberto Colella, Victor Contreras, Pelin Corman Dincer, Elizabeth Cotter, Marcia Crovetto, William Darrah, Simon Davies, Enrique Del Cojo Peces, Ellise Delphin, John Diaper, Paulo do Nascimento Junior, Valerio Donatiello, Jing Dong, Maria do Socorro Dourado, Alexander Dullenkopf, Felix Ebner, Hamed Elgendy, Christoph Ellenberger, Dilek Erdoğan Arı, Thomas Ermert, Fadi Farah, Ana Fernandez‐Bustamante, Cristina Ferreira, Marco Fiore, Ana Fonte, Christina Fortià Palahí, Andrea Galimberti, Najia Garofano, Luca Gregorio Giaccari, Fernando Gilsanz, Felix Girrbach, Luca Gobbi, Marc Bernard Godfried, Nicolai Goettel, Peter A. Goldstein, Or Goren, Andrew Gorlin, Juan Graterol, Pierre Guyon, Kevin Haire, Philippe Harou, Antonia Helf, Gunther Hempel, Hernández Cádiz, María José, Ivan Huercio, Jasmina Ilievska, Lien Jakus, Vijay Jeganath, Yvonne Jelting, Minoa Jung, Barbara Kabon, Aalok Kacha, Maja Karaman Ilić, Arunthevaraja Karuppiah, Ayse Duygu Kavas, Gleicy Keli Barcelos, Todd A. Kellogg, Johann Kemper, Romain Kerbrat, Suraya Khodr, Peter Kienbaum, Bunyamin Kir, Selin Kivrak, Vlasta Klarić, Ceren Köksal, Ana Kowark, Peter Kranke, Bahar Kuvaki, Biljana Kuzmanovska, Mirko Lange, Marília Freitas de Lemos, Manuel López‐Baamonde, Antonio López‐Hernández, Mercedes Lopez‐Martinez, Stéphane Luise, Mark MacGregor, Danielle Magalhães, Julien Maillard, Patrizia Malerbi, Natesan Manimekalai, Michael Margarson, Archer K Martin, David P. Martin, Yvette N. Martin, Julia Martínez‐Ocon, Ignacio Martin‐Loeches, Emilio Maseda, Niamh McAuliffe, Travis J. McKenzie, Paulina Medina, Melanie Meersch, Angelika Menzen, Els Mertens, Bernd Meurer, Tanja Meyer‐Treschan, Changhong Miao, Camilla Micalizzi, Morena Milić, Norma Sueli Pinheiro Módolo, Pierre Moine, Patrick Mölders, Ana Montero‐Feijoo, Enrique Moret, Markus K. Muller, Zoe Murphy, Pramod Nalwaya, Filip Naumovski, Paolo Navalesi, Lais Helena Navarro e Lima, Višnja Nesek Adam, Claudia Neumann, Christopher Newell, Zoulfira Nisnevitch, Junaid Nizamuddin, Cecilia Novazzi, Michael O'Connor, Günther Oprea, Mukadder Orhan Sungur, Şule Özbilgin, Maria Caterina Pace, Marcos Pacheco, Balaji Packianathaswamy, Estefania Palma Gonzalez, Fotios Papaspyros, Sebastián Paredes, Maria Beatrice Passavanti, Juan Cristobal Pedemonte, Sanja Peremin, Christoph Philipsenburg, Daniela Pinho, Silvia Pinho, Linda M. Posthuma, Vincenzo Pota, Benedikt Preckel, Paolo Priani, Mohamed Aymen Rached, Aleksandar Radoeshki, Riccardo Ragazzi, Tamilselvan Rajamanickam, Arthi Rajamohan, Harish Ramakrishna, Desikan Rangarajan, Christian Reiterer, J. Ross Renew, Thomas Reynaud, Rhidian Rhys, Eva Rivas, Luisa Robitzky, Francesca Rubulotta, Humberto S. Machado, Catarina S. Nunes, Giovanni Sabbatini, Jon D Samuels, Josep Martí Sanahuja, Pasquale Sansone, Alice Santos, Mohamed Sayedalahl, Martin Scharffenberg, Eduardo Schiffer, Nadja Schliewe, Raoul Schorer, Roman Schumann, Gabriele Selmo, Mar Sendra, Kate Shaw, Mirjana Shosholcheva, Abdulrazak Sibai, Francesca Simonassi, Claudia Sinno, Nukhet Sivrikoz, Vasiliki Skandalou, Neil Smith, Maria Soares, Tania Socorro Artiles, Diogo Sousa Castro, Miguel Sousa, Savino Spadaro, Emmanouil Stamatakis, Luzius A. Steiner, Andrea Stevenazzi, Alejandro Suarez‐de‐la‐Rica, Mélanie Suppan, Robert Teichmann, José Maria Tena Guerrero, Bram Thiel, Raquel Tolós, Gulbin Tore Altun, Michelle Tucci, Zachary A. Turnbull, Žana Turudić, Matthias Unterberg, Yves Van Nieuwenhove, Julia Van Waesberghe, Bibiana Vitković, Luigi Vivona, Marcela Vizcaychipi, Carlo Alberto Volta, Anne Weber, Toby N. Weingarten, Jakob Wittenstein, Piet Wyffels, Julio Yagüe, David Yates, Ayşen Yavru, Lilach Zac, Jing Zhong +517 morewiley +1 more sourcePeripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
Frontiers in Neurology, 2017 ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen ...Adriano M. de Assis, Adriano M. de Assis, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Gabriel Vasata Furtado, Tailise Conte Gheno, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Diogo Onofre Souza, Suzi Camey, Suzi Camey, Vanessa Bielefeldt Leotti, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Luis Valmor Portela, Luis Valmor Portela +39 moredoaj +1 more sourceVergence and Strabismus in Neurodegenerative Disorders
Frontiers in Neurology, 2018 Maintaining proper eye alignment is necessary to generate a cohesive visual image. This involves the coordination of complex neural networks, which can become impaired by various neurodegenerative diseases.Sarah L. Kang, Aasef G. Shaikh, Aasef G. Shaikh, Fatema F. Ghasia, Fatema F. Ghasia +4 moredoaj +1 more sourceIdentification of the 5-HT1A serotonin receptor as a novel therapeutic target in a C. elegans model of Machado-Joseph disease
, 2021 Joana Pereira‐Sousa, Bruna Ferreira-Lomba, Aina Bellver‐Sanchís, Daniela Vilasboas‐Campos, Jorge H. Fernandes, Marta D. Costa, Mark A. Varney, Adrian Newman‐Tancredi, Patrı́cia Maciel, Andreia Teixeira‐Castro +9 moreopenalex +1 more sourceNovel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
, 2021 Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, João Vasconcelos, Teresa Kay, Maria Luiza Saraiva Pereira, Marta D. Costa, Daniela Vilasboas‐Campos, Bruno Filipe Bettencourt, Jácome Bruges‐Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patrı́cia Maciel, Manuela Lima +18 moreopenalex +1 more source