Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Clara Gómez-González"'
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
Publikováno v:
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4:28-39
Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99e01829f5eeb8c7747b052a4cfeb5a0
https://doi.org/10.1515/almed-2023-0024
https://doi.org/10.1515/almed-2023-0024
Publikováno v:
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4:40-51
Resumen El diagnóstico genético prenatal de enfermedades monogénicas es un proceso que engloba el conjunto de técnicas moleculares dirigidas a caracterizar molecularmente una posible enfermedad monogénica en el feto durante el embarazo. Actualme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a796f60ed1eb38f05efc6014461cc95d
https://doi.org/10.1515/almed-2022-0086
https://doi.org/10.1515/almed-2022-0086
Autor:
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Publikováno v:
Brain.
ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::820c961c807b1c4c6560ab3f815afabe
https://doi.org/10.1093/brain/awad124
https://doi.org/10.1093/brain/awad124
Autor:
Alfredo Reparaz Andrade, María Santamaría González, María José Alcaine, Ana Cuesta Peredo, Clara Gómez González, Pilar Carrasco Salas, Cristina Torreira Banzas, Reyes Granell Escobar, Carmen Prior de Castro, Begoña Ezquieta Zubicaray
Publikováno v:
Revista del Laboratorio Clínico. 12:27-37
Resumen El termino diagnostico prenatal comprende todas las modalidades de diagnostico dirigidas a detectar durante la gestacion una anomalia congenita que incluya trastornos estructurales o funcionales. Un porcentaje de las mismas se debe a factores
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aa73dab4a6bf2c386d6b7566ce16023
https://doi.org/10.1016/j.labcli.2018.10.001
https://doi.org/10.1016/j.labcli.2018.10.001
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f920eb39ed593ca3379a0a3bb192d4b
https://doi.org/10.1016/j.jns.2018.12.031
https://doi.org/10.1016/j.jns.2018.12.031
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::157b7a73a6d2498bcb32278fd7ae8eed
https://pubmed.ncbi.nlm.nih.gov/31544778
https://pubmed.ncbi.nlm.nih.gov/31544778
Autor:
Carlos Rodriguez-Antolin, C. Prior, Rosa J. Torres, Clara Gómez-González, Angela del Pozo, Javier Sanguino, Alvaro García-Guede, Rocío Rosas-Alonso, Samuel I. Pascual, Inmaculada Ibáñez de Cáceres, María Ángeles Mori, Isabel Esteban
Publikováno v:
European Journal of Medical Genetics. 64:104170
X-linked myotubular myopathy (XLMTM; OMIM 310400) is a centronuclear congenital muscular disorder of X-linked recessive inheritance. Although female carriers are typically asymptomatic, affected heterozygous females have been described. Here, we desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0939e31dfc6664ad7116d6a8d2834442
https://doi.org/10.1016/j.ejmg.2021.104170
https://doi.org/10.1016/j.ejmg.2021.104170
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3eb4d24929ebe3f7008b436c55396a5
https://doi.org/10.1016/j.labcli.2016.07.003
https://doi.org/10.1016/j.labcli.2016.07.003
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d890bac28dd596c4a6fde158749cbd7
https://pubmed.ncbi.nlm.nih.gov/29111379
https://pubmed.ncbi.nlm.nih.gov/29111379