Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Paloma Martínez-Montero"'
Autor:
Paloma Martínez-Montero, Jesús Molano, Maria Muñoz-Calero, P Póo, Clara Gómez-González, Loreto Martorell, C. Prior, Luis C. Barrio
Publikováno v:
Journal of the Neurological Sciences. 397:135-137
Autor:
Carmen Palma, Milla, Carmen Prior, De Castro, Clara, Gómez-González, Paloma, Martínez-Montero, Samuel I, Pascual Pascual, Jesús, Molano Mateos
Publikováno v:
Journal of genetics. 98
Myotonia congenita (MC) is a Mendelian inherited genetic disease caused by the mutations in the
Autor:
C. Prior, Jesús Molano, Clara Gómez-González, Carmen Palma, Paloma Martínez-Montero, Samuel I. Pascual
Publikováno v:
Revista del Laboratorio Clínico. 9:195-202
Myotonia congenita is the most common form of non-dystrophic myotonia. This myopathy is caused by mutations in the CLCN1 gene, encoding the main skeletal muscle chloride ion channel (ClC-1). Altering the function of this voltage-gated channel, leads
Autor:
Paula Pluta, Carlos L. Paíno, Daniel González-Nieto, Ilaria Fasciani, Luis C. Barrio, Paloma Martínez-Montero, Oscar Millet, Jesús Molano
Publikováno v:
Glia. 66(11)
Intercellular communication via gap junction channels between oligodendrocytes and between astrocytes as well as between these cell types is essential to maintain the integrity of myelin in the central nervous system. Oligodendrocyte gap junction con
Autor:
Jesús Molano Mateos, Lucía Pérez de Ayala, Carlos Rodriguez-Antolin, Samuel I. Pascual, Carmen Palma, Clara Gómez-González, C. Prior, Paloma Martínez-Montero
Publikováno v:
Neuromuscular disorders : NMD. 27(12)
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated b
Autor:
Daniel González-Nieto, Luis C. Barrio, Ana Temperan, Paloma Martínez-Montero, Ilaria Fasciani, Juan M. Gómez-Hernández, Jesús Molano, Adela Escudero, Leonel Pérez-Atencio, Carlos L. Paíno
Publikováno v:
Neuropharmacology. 75:479-490
Connexins are thought to solely mediate cell-to-cell communication by forming gap junction channels composed of two membrane-spanning hemichannels positioned end-to-end. However, many if not all connexin isoforms also form functional hemichannels (i.
Autor:
MJ Ruiz-Falcó, Jesús Molano, Roser Pons, M Muñoz-Calero, Elena Vallespín, Julián Nevado, J Campistol, A Dinopoulos, A Santana, Loreto Martorell, C Sierra, Paloma Martínez-Montero
Publikováno v:
Clinical Genetics. 84:566-571
Pelizaeus-Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing m
Autor:
Rosalba Escamilla, Isabel Esteban-Rodríguez, Gustavo Lorenzo, Jesús Molano, C. Prior, Luis C. Barrio, Carlos Puebla, Luis A. Cea, Klaus Willecke, Ignacio Pascual, Héctor Pian, Paloma Martínez-Montero, Pia Gallano, Bruno A. Cisterna, Aníbal A. Vargas, Juan C. Sáez, Marina Frank
Publikováno v:
Cellular and molecular life sciences : CMLS. 73(13)
Skeletal muscles of patients with Duchenne muscular dystrophy (DMD) show numerous alterations including inflammation, apoptosis, and necrosis of myofibers. However, the molecular mechanism that explains these changes remains largely unknown. Here, th
Autor:
Carmen Castro, Carmen Palma Milla, Samuel I. Pascual, Paloma Martínez-Montero, Jesús Molano Mateos, Clara Gómez-González
Publikováno v:
Scopus-Elsevier
Myotonia congenita (MC) is a Mendelian inherited genetic disease caused by the mutations in the CLCN1 gene, encoding the main skeletal muscle ion chloride channel (ClC-1). The clinical diagnosis of MC should be suspected in patients presenting myoton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71573eb754e4e1e82b28faba17a2601
http://www.scopus.com/inward/record.url?eid=2-s2.0-85072584072&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-85072584072&partnerID=MN8TOARS