Zobrazeno 1 - 10
of 180
pro vyhledávání: '"A. Nascimento Osorio"'
Autor:
I. Pitarch Castellano, M. Cabrera-Serrano, R. Calvo Medina, M.G. Cattinari, S. Espinosa García, J.A. Fernández-Ramos, O. García Campos, D. Gómez-Andrés, M.A. Grimalt Calatayud, A.J. Gutiérrez Martínez, E. Ibáñez Albert, S. Kapetanovic García, M. Madruga-Garrido, M. Martínez-Moreno, J. Medina Cantillo, A.I. Melián Suárez, A. Moreno Escribano, F. Munell, A. Nascimento Osorio, S.I. Pascual-Pascual, M. Povedano, I.M. Santana Casiano, J.F. Vázquez-Costa
Publikováno v:
Neurología (English Edition), Vol 37, Iss 3, Pp 216-228 (2022)
Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord,
Externí odkaz:
https://doaj.org/article/29c049f2aca740cbbda27ddd32a98823
Autor:
A. Nascimento Osorio, J. Medina Cantillo, A. Camacho Salas, M. Madruga Garrido, J.J. Vilchez Padilla
Publikováno v:
Neurología, Vol 34, Iss 7, Pp 469-481 (2019)
Resumen: Introducción: La distrofia muscular de Duchenne (DMD) es la miopatía más frecuente en niños, con una prevalencia mundial de aproximadamente 0,5 por cada 10.000 varones. Se caracteriza por una debilidad muscular progresiva al inicio de la
Externí odkaz:
https://doaj.org/article/0c50d8ec7160484186047c5c1ea04bec
Akademický článek
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Autor:
Ridout, Deborah, Muntoni, Francesco, Manzur, Adnan., Quinlivan, Rosaline, Baranello, Giovanni, Main, Marion, Abbott, Lianne, Burnett, Nicola, Rohwer, Anne-Marie, Milev, Evelin, Wolfe, Adrian, O'Reilly, Emer, Straub, Volker, Guglieri, Michela, Bettolo, Chiara, Muni-Lofra, Robert, James, Meredith, Sodhi, Jassi, Willis, Tracey, Wright, Elizabeth, Rylance, Claire, Birchall, Nicola, Childs, Anne-Marie, Pysden, Karen, Martos-Lozano, Cristina, Pallant, Lindsey, Wadsworth, Steph, Spinty, Stefan, Madhu, Rajesh, Karuvattil, Rajesh, Gregson, Sarah, Clark, Stuart, Wraige, Elizabeth, Jungbluth, Heinz, Gowda, Vasantha, Vanegas, Maria, Sheehan, Ennie, Wolfe, Amy, Schofield, Alex, Hughes, Imelda, McCullagh, Gary, Whitehouse, Emily, Varma, Uma., Warner, Sinead, Reading, Emily, Benson, Lucy., Moustoukas, Jenny, Strachan, Kate, Emery, Nicholas, Ong, Min, Atherton, Mark, Durso, Sarah, White, Kay, Hinde, Neil, Skone, Kate, Sanchez Marco, Silvia, Saxena, Anurag, Gibbon, Frances, TeWaterNaude, Johann, Davis, Hayley, Thompson, Laura, Majumdar, Anirban, Murugan, Archana, Lynch, Mollie, Milton, Emily, Guarino, Iolanda, Tomlinson, Richard, Jarvis, Heather, Berry, Jane, Wills, Lucy, Frimpong-Ansah, Claire, Watson, Jackie, Robertson, Gemma, Cobb, Gavin, Burslem, Julie, Horrocks, Iain, Wong, Jarod, Brunklaus, Andreas, DiMarco, Marina, Brown, Sarah, Mckenzie, Susanne, Torne, Krupa, Mohamed, Rana, Velmurugan, Vel, Prasad, Manish, Sedehizadeh, Saam, Williamson, Sarah, Fenty, Paula, Degoede, Christian, Parkes, Amy, Illingworth, Marjorie, Bhangu, Neeraj, Geary, Michelle, Palmer, Jenni, Shill, Catherine, White, Cathy, Greenfield, Kathryn, Tomos, Heledd, Gates, Sarah, Tirupathi, Sandya, Shah, Ayaz, O'Donoghue, Dara, McVeigh, Janine, McFetridge, Jaci, Nic Fhirleinn, Grainne, Hussain, Nahin, Baskaran, Dhinesh, Lambat, Zubeida, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Moores, Jo, Stephen, Elma, Tewnion, Jane, Ramdas, Sithara, Sa, Mario, Servais, Laurent, Lilien, Charlotte, Ramjattan, Hayley, Taylor, Francesca, English, Hayley, Parasuraman, Deepak, Rabb, Rosanna, McMurchie, Heather, Henzi, Bettina C, Schmidt, Simone, Nagy, Sara, Rubino-Nacht, Daniela, Schaedelin, Sabine, Putananickal, Niveditha, Stimpson, Georgia, Amthor, Helge, Deconinck, Nicolas, de Groot, Imelda, Houwen-van Opstal, Saskia, Laugel, Vincent, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Nascimento Osorio, Andrés, Schara-Schmidt, Ulrike, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, Dorchies, Olivier M, Fischer, Dirk *
Publikováno v:
In The Lancet Neurology October 2023 22(10):890-899
Autor:
Pitarch Castellano, I. ⁎, Cabrera-Serrano, M., Calvo Medina, R., Cattinari, M.G., Espinosa García, S., Fernández-Ramos, J.A., García Campos, O., Gómez-Andrés, D., Grimalt Calatayud, M.A., Gutiérrez Martínez, A.J., Ibáñez Albert, E., Kapetanovic García, S., Madruga-Garrido, M., Martínez-Moreno, M., Medina Cantillo, J., Melián Suárez, A.I., Moreno Escribano, A., Munell, F., Nascimento Osorio, A., Pascual-Pascual, S.I., Povedano, M., Santana Casiano, I.M., Vázquez-Costa, J.F.
Publikováno v:
In Neurología (English Edition) April 2022 37(3):216-228
Autor:
Pitarch Castellano, I., Cabrera-Serrano, M., Calvo Medina, R., Cattinari, M.G., Espinosa García, S., Fernández-Ramos, J.A., García Campos, O., Gómez-Andrés, D., Grimalt Calatayud, M.A., Gutiérrez Martínez, A.J., Ibáñez Albert, E., Kapetanovic García, S., Madruga-Garrido, M., Martínez-Moreno, M., Medina Cantillo, J., Melián Suárez, A.I., Moreno Escribano, A., Munell, F., Nascimento Osorio, A., Pascual-Pascual, S.I., Povedano, M., Santana Casiano, I.M., Vázquez-Costa, J.F.
Publikováno v:
In Neurología April 2022 37(3):216-228
Autor:
Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, Day, John W
Publikováno v:
In The Lancet Neurology January 2022 21(1):42-52
Autor:
Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou
Publikováno v:
Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)
Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to g
Externí odkaz:
https://doaj.org/article/3ee2e812910448329c59438092ef3013
Akademický článek
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Autor:
Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi *, *, Kishnani, Priya S *, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M †, Schoser, Benedikt †
Publikováno v:
In The Lancet Neurology December 2021 20(12):1012-1026