Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Manuel Roig-Quilis"'
Autor:
Fabiola Caracseghi, Jaume Izquierdo-Blasco, Angel Sanchez-Montanez, Susana Melendo-Perez, Manuel Roig-Quilis, Consuelo Modesto
Publikováno v:
Case Reports in Rheumatology, Vol 2011 (2011)
Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern
Externí odkaz:
https://doaj.org/article/4f101b0710fc49b2839de74b76404132
Autor:
Consuelo Modesto, Manuel Roig-Quilis, Jaume Izquierdo-Blasco, Angel Sanchez-Montanez, Fabiola Caracseghi, Susana Melendo-Perez
Publikováno v:
Case Reports in Rheumatology, Vol 2011 (2011)
Case Reports in Rheumatology
Case Reports in Rheumatology
Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f059f53c57ad056ff6fe7015e68c87c
https://doi.org/10.1155/2011/134106
https://doi.org/10.1155/2011/134106
Autor:
Mario Marotta, Francina Munell, Manuel Roig-Quilis, Jose L. Peiro, Yaris Sarria, Julián Cerón, Fatima Nuñez, Claudia Ruiz-Roig
Publikováno v:
Physiological Genomics. 37:119-132
Mdx mice show a milder phenotype than Duchenne patients despite bearing an analogous genetic defect. Our aim was to sort out genes, differentially expressed during the evolution of skeletal muscle mdx mouse disease, to elucidate the mechanisms by whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8302c0d988365ce7a01ab8a3ce90573b
https://doi.org/10.1152/physiolgenomics.90370.2008
https://doi.org/10.1152/physiolgenomics.90370.2008
Publikováno v:
Neuromuscular Disorders. 17:707-718
We have used the mdx mice strain (C57BL/10ScSn-mdx) as an experimental subject for the study of reiterative skeletal muscle necrosis-regeneration with basement membrane preservation. In young mdx muscle, by means of Hematoxylin-Eosin staining, differ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b025b9b50dd125ab44663e8ee707ca
https://doi.org/10.1016/j.nmd.2007.05.007
https://doi.org/10.1016/j.nmd.2007.05.007
Autor:
Hasan O. Akman, Felicia B. Axelrod, Jonathan Baets, Alan H. Beggs, Carsten G. Bönnemann, Kathryn M. Brennan, Robert H. Brown, Kate Bushby, Stirling Carpenter, Wendy Chung, Emma Ciafaloni, Pedro D.S.C. Ciarlini, Thomas O. Crawford, Basil T. Darras, William S. David, Umberto De Girolami, Darryl C. De Vivo, Feza Deymeer, Salvatore DiMauro, James J. Dowling, Hacer Durmus, Andrew G. Engel, Elizabeth C. Engle, Hans H. Goebel, Padraic J. Grattan-Smith, Michela Guglieri, Debra Guntrum, Judith G. Hall, Veronica Hinton, Susan T. Iannaccone, H. Royden Jones, Karin Jurkat-Rott, Peter B. Kang, Horacio Kaufmann, Petra Kaufmann, Werner Klingler, Louis M. Kunkel, Frank Lehmann-Horn, Kerry H. Levin, Wendy K.M. Liew, Deirdre Logan, Stephen M. Maricich, Jennifer A. Markowitz, Wilson Marques, Thornton B.A. Mason, Andrew McKeon, Hugh J. McMillan, Caroline C. Menache-Starobinski, Jerry R. Mendell, Eugenio Mercuri, Payam Mohassel, Umrao R. Monani, Jacqueline Montes, Manikum Moodley, Richard T. Moxley, Francesco Muntoni, Kathryn N. North, Anders Oldfors, Maryam Oskoui, Robert A. Ouvrier, Lauren M. Pachman, Massimo Pandolfo, Carmen Paradas, Marc C. Patterson, Alan K. Percy, Matthew Pitt, David Pleasure, Susana Quijano-Roy, Francis Renault, Louise R. Rodino-Klapac, Manuel Roig-Quilis, David P. Roye, Reinhardt Rüdel, Barry S. Russman, Monique M. Ryan, Ai Sakonju, Harvey B. Sarnat, William A. Scott, Alan R. Seay, Piraye Serdaroglu-Oflazer, Navil F. Sethna, Evan D. Sheha, Michael E. Shy, Jemeen Sreedharan, Nancy E. Strauss, Rabi Tawil, Ingrid Tein, Jennifer A. Tracy, Bjarne Udd, Silvère M. van der Maarel, Angela Vincent, Joseph J. Volpe, Jo M. Wilmshurst, Nanfang Xu, Eppie M. Yiu, Huda Y. Zoghbi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::413975fb732cc9c4f6c442c8d5192a34
https://doi.org/10.1016/b978-0-12-417044-5.00062-7
https://doi.org/10.1016/b978-0-12-417044-5.00062-7
Autor:
Manuel Roig-Quilis
Important functions such as feeding and nutrition, language articulation, and gestural nonverbal communication are dependent on a set of neural structures known as the “oromotor system.” Oromotor dysfunction (OMD) has multiple causes, neuromuscul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee9061fd68788ae11a7ed68677021ddd
https://doi.org/10.1016/b978-0-12-417044-5.00047-0
https://doi.org/10.1016/b978-0-12-417044-5.00047-0
Autor:
Elena Martínez-Sáez, Angel Sanchez-Montanez, Manuel Roig-Quilis, M. Gractacós, S. Ferrer, Manuela Pérez Pérez, Estrella Bernal Cuenca, Montse Olivé, F. Vidal, F. Munell
Publikováno v:
Neuromuscular Disorders. 25:S300-S301
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::844a3ffd7aaab9b6210717bde11b0aed
https://doi.org/10.1016/j.nmd.2015.06.408
https://doi.org/10.1016/j.nmd.2015.06.408
Autor:
Manuel Roig-Quilis, Elena García-Arumí, Belén Bornstein, Laura Monlleo-Neila, Mireia del Toro, Francina Munell, Axel Sarrias
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
et al.
The mitochondrial DNA m.13513G>A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this mutation typically present with ptosis and cardiac conduction abnormalities, particularly Wolff-Parkinson-Whi
The mitochondrial DNA m.13513G>A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this mutation typically present with ptosis and cardiac conduction abnormalities, particularly Wolff-Parkinson-Whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::642d47d0c0c81e8d09d3e92f3853aff9
http://hdl.handle.net/10261/123952
http://hdl.handle.net/10261/123952
Autor:
Miquel, Raspall-Chaure, Elena, Lainez, Manuel, Toledo, Javier, Salas-Puig, Alfons, Macaya-Ruiz, Manuel, Roig-Quilis
Publikováno v:
Revista de neurologia. 55(11)
Encephalopathy due to valproic acid (VPA) is a rare complication leading to a disorder that affects the patient's mental status to a greater or lesser extent and which can be accompanied by a paradoxical worsening of the seizures. The diagnosis is ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6988870a24b7c001de331d7edf9e50a1
https://pubmed.ncbi.nlm.nih.gov/23172093
https://pubmed.ncbi.nlm.nih.gov/23172093
Autor:
Andrés Nascimento, Jaume Colomer, Aurelio Hernández-Lain, Edgard Verdura, J. Diaz-Manera, María José Cubillas Rodríguez, Carmen Paradas, Cecilia Jimenez-Mallebrera, Jonàs Juan-Mateu, Maria Rabasa, Francina Munell, Pia Gallano, Jordi Pascual, Laura Gonzalez-Mera, Manuel Roig-Quilis, Marcos Madruga, Montse Olivé, Eloy Rivas, Lidia Gonzalez-Quereda, Eduard Gallardo, Cristina Jou, Pedro Sánchez-Ayaso, Montserrat Baiget
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 82 (2012)
Recercat. Dipósit de la Recerca de Catalunya
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Dipòsit Digital de la UB
Universidad de Barcelona
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 82 (2012)
Recercat. Dipósit de la Recerca de Catalunya
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Dipòsit Digital de la UB
Universidad de Barcelona
Background Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4680e41f6b4e91bdb7d642d1a4e1cc38
https://doi.org/10.1186/1750-1172-7-82
https://doi.org/10.1186/1750-1172-7-82