Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jesus Molano"'
Autor:
Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani
Publikováno v:
Annals of Indian Academy of Neurology, Vol 14, Iss 4, Pp 307-309 (2011)
Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively. Thes
Externí odkaz:
https://doaj.org/article/2c03dd69cb4946a4a6d63b705dedfeda
Publikováno v:
Medicina Clínica. 138:584-588
Autor:
Clara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, Elena Vallespín, Pablo Lapunzina, Paloma Martínez, Samuel I Pascual, Jesús Molano, Carmen Prior
Publikováno v:
Annals of Indian Academy of Neurology, Vol 20, Iss 2, Pp 164-165 (2017)
Externí odkaz:
https://doaj.org/article/305fe8d4fe3e41f38edb190eedddb9e9
Autor:
Fitzgerald, K. M., Cibis, G. W., White, R. A., Pascual Pascual, S. I., Jesus Molano Mateos, Pascual-Castroviejo, I.
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8d387fec67bc514a14356d3ca10c09c7
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032406742&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032406742&partnerID=MN8TOARS
Publikováno v:
Scopus-Elsevier
Cystic fibrosis (CF) is the most frequent autosomal recessive inherited disorder in Caucasian populations. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified an 84-bp deletion in exon 13 o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::25a6d5e401c60f961c9ccc4122aa6abe
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026724675&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026724675&partnerID=MN8TOARS
Autor:
Mora, R., Ramos, S., José Luis Merino, J. L., Peinado, R., Olias, F., García-Guereta, L., Sobrino, J. A., Del Cerro, M. J., Moreno, F., Tarín, Ma N., Jesus Molano Mateos
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6b544b0582a0e4063b7ea79323912598
http://www.scopus.com/inward/record.url?eid=2-s2.0-33845989450&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-33845989450&partnerID=MN8TOARS
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::46e5acd7c5e33a03884fa3bc5c344eb5
http://www.scopus.com/inward/record.url?eid=2-s2.0-0031808249&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0031808249&partnerID=MN8TOARS
Autor:
Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e59916 (2013)
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is consid
Externí odkaz:
https://doaj.org/article/01f25a8e27ed4e2ab08cfcd4aa96e734