Zobrazeno 1 - 10
of 67
pro vyhledávání: '"E. Rivas-Infante"'
Autor:
J.C. Romero-Fábrega, R. Lorenzo-López, E. Rivas-Infante, F. Escamilla-Sevilla, M. Rashki, A. Mínguez-Castellanos, A. Carvajal-Hernández
Publikováno v:
Neurología, Vol 39, Iss 9, Pp 820-823 (2024)
Externí odkaz:
https://doaj.org/article/653fb83eb3384edd8613f0f54bc8f2ce
Autor:
E. Servián-Morilla, M. Cabrera-Serrano, E. Rivas-Infante, A. Carvajal, P. J. Lamont, A. L. Pelayo-Negro, G. Ravenscroft, R. Junckerstorff, J. M. Dyke, S. Fletcher, A. M. Adams, F. Mavillard, M. A. Fernández-García, J. L. Nieto-González, N. G. Laing, C. Paradas
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
Abstract TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain
Externí odkaz:
https://doaj.org/article/347882b61d064fd4ae84598c7da1fafa
Autor:
Fabiola Mavillard, Aurelio Hernández-Lain, Emilia Servián-Morilla, Joshua S. Clayton, J. Esteban Perez, Leigh B. Waddell, Nigel G. Laing, Sandra T. Cooper, P. Rodrigo, Katrina Reardon, Macarena Cabrera-Serrano, Montse Olivé, Frances J. Evesson, Payam Soltanzadeh, Cristina Domínguez-González, N. Ermolova, A. Arteche‐López, M. Spencer, A. Corbett, Laura Gonzalez-Mera, C. Navas, Gianina Ravenscroft, E. Rivas-Infante, C. Paradas‐Lopez, A. Sanchez
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
[Aims] Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in-frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently, Gly4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16687d4e6e551c8df8f28621eec86ecd
https://pubmed.ncbi.nlm.nih.gov/32896923
https://pubmed.ncbi.nlm.nih.gov/32896923
Autor:
Emilia Servián-Morilla, A. L. Pelayo-Negro, Macarena Cabrera-Serrano, Fabiola Mavillard, Nigel G. Laing, Abbie M. Adams, Gianina Ravenscroft, Alejandra Carvajal, M. A. Fernández-García, Sue Fletcher, Jose Luis Nieto-Gonzalez, Carmen Paradas, Reimar Junckerstorff, E. Rivas-Infante, J. M. Dyke, Phillipa J. Lamont
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC
TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aafbf2991c3b2e4dbcb2c6496b47371
http://europepmc.org/articles/PMC6396567
http://europepmc.org/articles/PMC6396567
Akademický článek
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Autor:
M. Rivero-Garvía, L. M. Rojas-Medina, Javier Márquez-Rivas, L. Esteban-Fernández, R. Carrasco-Moro, E. Rivas-Infante
Publikováno v:
Child's Nervous System. 32:1577-1585
Desmoplastic astrocytoma (DA) is a rare intracranial tumor which usually affects pediatric patients. The aim of this study is to describe the clinical features and management of DA based on a joint analysis of the cases reported in the scientific lit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f1512398c3e67c560265b1a4d47ae91
https://doi.org/10.1007/s00381-016-3126-y
https://doi.org/10.1007/s00381-016-3126-y
Autor:
Alejandro Gil-Gálvez, Carmen Paradas, L. Villarreal-Pérez, Nigel G. Laing, Estela Area-Gomez, Emilia Servián-Morilla, G. García-Martín, Amalia Martinez-Mir, Pilar Carbonell-Corvillo, E. Rivas-Infante, Enriqueta Tristán-Clavijo, M.I. Chamorro-Muñoz, Antonio Miranda-Vizuete, M. Cabrera-Serrano
Publikováno v:
Neuromuscular disorders : NMD. 28(10)
MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0e4fc707846bb5851a0f41b7a40865
https://pubmed.ncbi.nlm.nih.gov/30166250
https://pubmed.ncbi.nlm.nih.gov/30166250
Autor:
I. Borrego-Dorado, Juan Luis Tirado-Hospital, Irene Acevedo-Báñez, R. García-Jiménez, R.M. Álvarez-Pérez, Juan Ignacio Cuenca-Cuenca, Francisco Javier García-Gómez, R. Martínez-Castillo, E. Rivas-Infante, V.M. Pachón-Garrudo, J.S. García-Morillo
Publikováno v:
European Journal of Radiology. 84:1586-1592
Erdheim–Chester disease (ECD) is a rare non-Langerhans cell histiocitosis, characterized by multisystemic xanthogranulomatous infiltration by foamy histiocytes that stain positively for CD68 marker but not express CD1a and S100 proteins. Etiology a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2069498bb0f3100262c03c7a735385c7
https://doi.org/10.1016/j.ejrad.2015.04.022
https://doi.org/10.1016/j.ejrad.2015.04.022
Akademický článek
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Akademický článek
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