المؤلفون: Mikel García-Puga, Ander Saenz-Antoñanzas, Gorka Gerenu, Alex Arrieta-Legorburu, Roberto Fernández-Torrón, Miren Zulaica, Amets Saenz, Joseba Elizazu, Gisela Nogales-Gadea, Shahinaz M. Gadalla, Marcos J. Araúzo-Bravo, Adolfo López de Munain, Ander Matheu

المصدر: JCI Insight, Vol 7, Iss 19 (2022)

مصطلحات موضوعية: Aging, Cell biology, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2379-3708Test

الوصول الحر: https://doaj.org/article/21e2c0c19010444fa4506a0c73f02c75Test

المؤلفون: Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: dysferlinopathy, Magnetic Resonace Imaging (MRI), Miyoshi myopathy, LGMDR2, limb girdle muscle dystrophy, exercise, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2020.613446/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/945d00c7ea94451cb594a35eeef06617Test

المؤلفون: Eva Alegre-Cortés, Alberto Giménez-Bejarano, Elisabet Uribe-Carretero, Marta Paredes-Barquero, André R. A. Marques, Mafalda Lopes-da-Silva, Otília V. Vieira, Saray Canales-Cortés, Pedro J. Camello, Guadalupe Martínez-Chacón, Ana Aiastui, Roberto Fernández-Torrón, Adolfo López de Munain, Patricia Gomez-Suaga, Mireia Niso-Santano, Rosa A. González-Polo, José M. Fuentes, Sokhna M. S. Yakhine-Diop

المصدر: Cells; Volume 11; Issue 19; Pages: 3018

مصطلحات موضوعية: AKT, autophagy, DMPK, endosomes, LBPA, lysosomes, muscle atrophy

وصف الملف: application/pdf

العلاقة: Autophagy; https://dx.doi.org/10.3390/cells11193018Test

الإتاحة: https://doi.org/10.3390/cells11193018Test

المؤلفون: Harmen Reyngoudt, Fiona E. Smith, Ericky Caldas de Almeida Araújo, Ian Wilson, Roberto Fernández‐Torrón, Meredith K. James, Ursula R. Moore, Jordi Díaz‐Manera, Benjamin Marty, Noura Azzabou, Heather Gordish, Laura Rufibach, Tim Hodgson, Dorothy Wallace, Louise Ward, Jean‐Marc Boisserie, Julien Le Louër, Heather Hilsden, Helen Sutherland, Aurélie Canal, Jean‐Yves Hogrel, Marni Jacobs, Tanya Stojkovic, Kate Bushby, Anna Mayhew, Volker Straub, Pierre G. Carlier, Andrew M. Blamire

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 3, Pp 1850-1863 (2022)

مصطلحات موضوعية: Dysferlinopathy, Quantitative MRI, 31P MRS, Longitudinal, Outcome measures, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

العلاقة: https://doi.org/10.1002/jcsm.12987Test; https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test; https://doaj.org/article/db937d5c7a7e45dcb101be7758743f29Test

الإتاحة: https://doi.org/10.1002/jcsm.12987Test
https://doaj.org/article/db937d5c7a7e45dcb101be7758743f29Test

المؤلفون: Mauro Monforte, Shahram Attarian, John Vissing, Jordi Diaz-Manera, Giorgio Tasca, Raj Badiani, David Bendahan, Pierre Carlier, Robert-Yves Carlier, Olof Dahlqvist Leinhard, Roberto Fernandez-Torron, Teresa Gerhalter, Linda Heskamp, Hermien Kan, Doris Leung, Aurea Martins-Bach, Kisten Meiburger, Anna Pichiecchio, Michal Rataj, Sabrina Sacconi, Francesco Santini, Nens van Alfen, Sanne Vincenten, Nicol Voermans

المصدر: Neuromuscular Disorders, 33, 65-75
Neuromuscular Disorders, 33, 1, pp. 65-75

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55e21e90fef925f9f1b20f65de0cd7fcTest
https://hdl.handle.net/2066/291789Test

المؤلفون: Youjin Wang, Ana Best, Roberto Fernández‐Torrón, Rotana Alsaggaf, Mikel Garcia‐Puga, Casey L. Dagnall, Belynda Hicks, Mone’t Thompson, Ander Matheu Fernandez, Miren Zulaica Ijurco, Mark H. Greene, Adolfo Lopez de Munain, Shahinaz M. Gadalla

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 126-131 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1002/acn3.50954Test; https://doaj.org/toc/2328-9503Test; https://doaj.org/article/ab1fd0fbd9f647a7918fddbaf4a84c8dTest

الإتاحة: https://doi.org/10.1002/acn3.50954Test
https://doaj.org/article/ab1fd0fbd9f647a7918fddbaf4a84c8dTest

المؤلفون: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: TK2 deficiency, Mitochondrial myopathy, Multiple deletions, Medicine

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1071-zTest; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21Test

الإتاحة: https://doi.org/10.1186/s13023-019-1071-zTest
https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21Test

المؤلفون: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, Diseases of the musculoskeletal system, RC925-935

العلاقة: http://link.springer.com/article/10.1186/s13395-018-0170-1Test; https://doaj.org/toc/2044-5040Test; https://doaj.org/article/7b793b20033f4da8837130c6461f81e4Test

الإتاحة: https://doi.org/10.1186/s13395-018-0170-1Test
https://doaj.org/article/7b793b20033f4da8837130c6461f81e4Test

المؤلفون: Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://doi.org/10.1038/s41598-017-06894-6Test; https://doaj.org/toc/2045-2322Test; https://doaj.org/article/0faa7f5c1e624b5b885d1c7b72e34039Test

الإتاحة: https://doi.org/10.1038/s41598-017-06894-6Test
https://doaj.org/article/0faa7f5c1e624b5b885d1c7b72e34039Test

المؤلفون: Waddington-Cruz, Márcia, Ando, Yukio, Amass, Leslie, Kiszko, Jan, Chapman, Doug, Sekijima Yoshiki, Sorina Badelita, Fabio Adrian Barroso, Teresa Coelho, Isabel Conceicao, Felix Darstein, Angela Dispenzieri, Roberto Fernandéz Torrón, Pablo Garcia Pavia, Burkhard Gess, Jose Gonzalez Costello, Maria Alejandra Gonzalez Duarte Briseno, Juan Gonzalez Moreno, Stephen Gottlieb, Eun-Seok Jeon, Arnt Kristen, LoRusso Samantha, Marco Luigetti, Tessa Marburger, Francisco Munoz Beamud, Hans Nienhuis, Jeeyoung Oh, Yesim Parman, Violaine Plante-Bordeneuve, Michael Polydefkis, Dianna Quan, Hartmut Schmidt, Ivaylo Tarne, Johan Van Cleemput, Giuseppe Vita

المساهمون: Márcia, Waddington-Cruz, Yukio, Ando, Leslie, Ama, Jan, Kiszko, Doug, Chapman, Yoshiki, Sekijima, Badelita, Sorina, Adrian Barroso, Fabio, Coelho, Teresa, Conceicao, Isabel, Darstein, Felix, Dispenzieri, Angela, Fernandéz Torrón, Roberto, Garcia Pavia, Pablo, Gess, Burkhard, Gonzalez Costello, Jose, Alejandra Gonzalez Duarte Briseno, Maria, Gonzalez Moreno, Juan, Gottlieb, Stephen, Jeon, Eun-Seok, Kristen, Arnt, Samantha, Lorusso, Luigetti, Marco, Marburger, Tessa, Munoz Beamud, Francisco, Nienhuis, Han, Oh, Jeeyoung, Parman, Yesim, Plante-Bordeneuve, Violaine, Polydefkis, Michael, Quan, Dianna, Schmidt, Hartmut, Tarne, Ivaylo, Van Cleemput, Johan, Vita, Giuseppe

مصطلحات موضوعية: ATTR-PN, nerve amplitude, nerve conduction, transthyretin amyloid polyneuropathy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33844361; firstpage:1; lastpage:24; numberofpages:24; journal:JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; http://hdl.handle.net/11570/3200960Test

الإتاحة: https://doi.org/10.1111/jns.12444Test
http://hdl.handle.net/11570/3200960Test