Zobrazeno 1 - 10
of 64
pro vyhledávání: '"M. D. Mora"'
Publikováno v:
Revista de neurologia. 73(4)
Joubert syndrome is produced by an alteration of the ciliary proteins essential for the structure and function of neurons and organs such as the kidneys, liver, sight, and hearing. Some 34 mutations are currently known.Calculate the incidence / preva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9c87ff32ca019d005464ecd921c4661
https://pubmed.ncbi.nlm.nih.gov/35484703
https://pubmed.ncbi.nlm.nih.gov/35484703
Publikováno v:
Revista de neurologia. 71(10)
Epileptic status represents the most frequent neurological emergency in pediatrics. Prolonged febrile seizures represent the most common etiology. Our objective is to update its epidemiology and analyze its evolutionary consequences.Observational ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a950ec677fc081fec267f779fd7c7ce5
https://pubmed.ncbi.nlm.nih.gov/33145747
https://pubmed.ncbi.nlm.nih.gov/33145747
Autor:
L, Aguilera-Nieto, J, Ferrero-Turrión, M D, Mora-Ramírez, R, Calvo-Medina, C, Ruiz-García, J M, Ramos-Fernández
Publikováno v:
Revista de neurologia. 71(2)
Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0675e4231485f8cca4ce80e24ef183ee
https://pubmed.ncbi.nlm.nih.gov/32627162
https://pubmed.ncbi.nlm.nih.gov/32627162
Publikováno v:
Revista de Neurología. 73:115
Introduccion. El sindrome de Joubert se produce por una alteracion de las proteinas ciliares esenciales para la estructura y la funcion de neuronas y organos como los rinones, el higado, la retina y el oido. Se conocen unas 34 mutaciones en la actual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c70d615950e7812670c0361ffd75e15e
https://doi.org/10.33588/rn.7304.2021066
https://doi.org/10.33588/rn.7304.2021066
Autor:
J Ferrero-Turrión, J M Ramos-Fernández, M D Mora-Ramírez, R. Calvo-Medina, C Ruiz-García, L Aguilera-Nieto
Publikováno v:
Revista de Neurología. 71:69
Introduccion. La discinesia de la mutacion ADCY5 es un raro trastorno del movimiento de inicio en la infancia. Se caracteriza por movimientos coreicos aislados o asociados a mioclonias y distonias que afectan a las extremidades, el cuello y la cara.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd676c9760bf1516ec2ffa9ad3afa197
https://doi.org/10.33588/rn.7102.2020154
https://doi.org/10.33588/rn.7102.2020154
Publikováno v:
Revista de Neurología. 71:365
Introduccion. El estado epileptico representa la emergencia neurologica mas frecuente en pediatria. Las convulsiones febriles prolongadas representan la etiologia mas frecuente. Nuestro objetivo es actualizar su epidemiologia y analizar sus consecuen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9775f217cd5882cdcaaf965d26162785
https://doi.org/10.33588/rn.7110.2020306
https://doi.org/10.33588/rn.7110.2020306
Autor:
M. Crippa, D. Guizzardi, T. Butler, T. Keating, R. Wu, J. Kaminski, J. Kuenen, J. Kurokawa, S. Chatani, T. Morikawa, G. Pouliot, J. Racine, M. D. Moran, Z. Klimont, P. M. Manseau, R. Mashayekhi, B. H. Henderson, S. J. Smith, H. Suchyta, M. Muntean, E. Solazzo, M. Banja, E. Schaaf, F. Pagani, J.-H. Woo, J. Kim, F. Monforti-Ferrario, E. Pisoni, J. Zhang, D. Niemi, M. Sassi, T. Ansari, K. Foley
Publikováno v:
Earth System Science Data, Vol 15, Pp 2667-2694 (2023)
This study, performed under the umbrella of the Task Force on Hemispheric Transport of Air Pollution (TF-HTAP), responds to the global and regional atmospheric modelling community's need of a mosaic emission inventory of air pollutants that conforms
Externí odkaz:
https://doaj.org/article/a35588ed97114204829ae4e0262047e3
Publikováno v:
Revista de neurologia. 62(11)
A deficiency of the enzyme guanosine triphosphate cyclohydrolase I (GTPCH 1) causes a reduction in the synthesis of tetrahydrobiopterin (BH4), a cofactor that is essential in the synthesis of tyrosine, dopamine and serotonin. It is an infrequent dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94f12e73afd0377414765ee166572f63
https://pubmed.ncbi.nlm.nih.gov/27222084
https://pubmed.ncbi.nlm.nih.gov/27222084
Publikováno v:
Astronomy & Astrophysics. 489:1065-1071
CONTEXT: Extragalactic globular clusters have been studied in elliptical galaxies and in a few luminous spiral galaxies, but little is known about globular clusters in low-luminosity spirals. AIMS: Past observations with the ACS have shown that NGC 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2d7efbd6c78454c115b54c2d659741c
https://doi.org/10.1051/0004-6361:200810084
https://doi.org/10.1051/0004-6361:200810084
Autor:
X. Lu, D. J. Jacob, H. Wang, J. D. Maasakkers, Y. Zhang, T. R. Scarpelli, L. Shen, Z. Qu, M. P. Sulprizio, H. Nesser, A. A. Bloom, S. Ma, J. R. Worden, S. Fan, R. J. Parker, H. Boesch, R. Gautam, D. Gordon, M. D. Moran, F. Reuland, C. A. O. Villasana, A. Andrews
Publikováno v:
Atmospheric Chemistry and Physics, Vol 22, Pp 395-418 (2022)
We quantify methane emissions and their 2010–2017 trends by sector in the contiguous United States (CONUS), Canada, and Mexico by inverse analysis of in situ (GLOBALVIEWplus CH4 ObsPack) and satellite (GOSAT) atmospheric methane observations. The i
Externí odkaz:
https://doaj.org/article/5a4be128fe2a4fd09cf90fac74b771cf