Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Juan José Vilchez"'
Autor:
Afagh Alavi, Yalda Nilipour, Luca Bello, Jorge Alonso-Pérez, Shahriar Nafissi, Muhammad Umair, Lidia Gonzalez-Quereda, Mario Emilio Dourado, Chiara Marini-Bettolo, Chiara Panicucci, Xavier Suárez-Calvet, Gultekin Kutluk, Kinga Hadzsiev, Lucas Michielon de Augusto Isihi, Edmar Zanoteli, Jordi Díaz-Manera, Thomas O. Crawford, Muhammad Younus, Ana Töpf, Naz Kadem, Elena Pegorano, Juan José Vilchez, Claudio Bruno, Pia Gallano, Béla Melegh, Michela Guglieri, Nuria Muelas, Volker Straub
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Universitat Autònoma de Barcelona
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. Delta-sarcoglycanopathy (LGMDR6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73651a42bdeaee241f06acea9ddd79f9
https://ddd.uab.cat/record/258072
https://ddd.uab.cat/record/258072
Autor:
Marta Gomez Garcia de la Banda, Aída Alejaldre, Alicia Alonso-Jimenez, Juan José Vilchez, Carmen Paradas, Montse Olivé, Susana Quijano-Roy, Francina Munell, Jordi Díaz-Manera, Irene Pulido-Valdeolivas, David Gómez-Andrés, Gisèle Bonne, Robert Carlier, Nuria Muelas, Angel Sanchez-Montanez, Ivana Dabaj, Laura Gonzalez-Mera, Adolfo López de Munain
Publikováno v:
Muscle & Nerve. 58:812-817
INTRODUCTION Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later onset forms of LMNA-related muscular dystrophies (LMNA-RD). METHODS Scores for fibroadipose infiltration of 23 lower lim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::908b9e065821af12531b5b24c1e4e4c7
https://doi.org/10.1002/mus.26312
https://doi.org/10.1002/mus.26312
Autor:
Pia Gallano, David Gómez-Andrés, Pilar Carbonell, Juan José Poza, Juan José Vilchez, Eduard Gallardo, L. Gonzalez, Jaume Llauger, Montse Olivé, Aída Alejaldre, Jordi Díaz-Manera, Isabel Illa, Sonia Mirabet, Roberto Fernández-Torrón, Jordi Clarimón, Nuria Muelas, Celedonio Márquez-Infante, Ricard Rojas-García, Adolfo López de Munain, Lidia Gonzalez-Quereda
Publikováno v:
NEUROMUSCULAR DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Identifying the mutated gene that produces a particular muscle dystrophy is difficult because different genotypes may share a phenotype and vice versa. Muscle MRI is a useful tool to recognize patterns of muscle involvement in patients with muscle dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24cb84a620091622e4c6ecb3a9340aa
https://pubmed.ncbi.nlm.nih.gov/26573435
https://pubmed.ncbi.nlm.nih.gov/26573435