Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Ribeiro-Constante J, Tristán-Noguero A, Martínez Calvo FF, Ibañez-Mico S, Peña Segura JL, Ramos-Fernández JM, Moyano Chicano MDC, Camino León R, Soto Insuga V, González Alguacil E, Valera Dávila C, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Martin-Tamayo Blázquez MDP, Paredes-Carmona F, Marti-Carrera I, Hernández-Fabián A, Tomas Davi M, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan M, Iglesias Santa Polonia FF, Cazorla MR, Ferrando Lucas MT, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Cueto-González AM, Valera Párraga F, Campistol Plana J, Serrano M, Alonso X, Del Castillo-Berges D, Schwartz-Palleja M, Illescas S, Ramírez Camacho A, Sans Capdevila O, García-Cazorla A, Bayés À, Alonso-Colmenero I. Ribeiro-Constante J, et al. Among authors: marti carrera i. Front Cell Dev Biol. 2024 Mar 5;12:1321282. doi: 10.3389/fcell.2024.1321282. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38505260 Free PMC article.
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Muñoz-Oreja M, et al. Among authors: marti carrera i. Brain. 2024 Jan 18:awae018. doi: 10.1093/brain/awae018. Online ahead of print. Brain. 2024. PMID: 38242545
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: marti carrera i. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038
Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.
Cantarín-Extremera V, Jiménez-Legido M, Aguilera-Albesa S, Hedrera-Fernández A, Arrabal-Fernández L, Gorría-Redondo N, Martí-Carrera I, Yoldi-Pedtri ME, Sagaseta-De Ilúrdoz M, González-Gutiérrez-Solana L. Cantarín-Extremera V, et al. Among authors: marti carrera i. Neurologia (Engl Ed). 2023 Mar;38(2):93-105. doi: 10.1016/j.nrleng.2020.04.030. Epub 2022 Nov 15. Neurologia (Engl Ed). 2023. PMID: 36396095 Free article.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: marti carrera i. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.
Cantarín-Extremera V, Jiménez-Legido M, Aguilera-Albesa S, Hedrera-Fernández A, Arrabal-Fernández L, Gorría-Redondo N, Martí-Carrera I, Yoldi-Pedtri ME, Sagaseta-De Ilúrdoz M, González-Gutiérrez-Solana L. Cantarín-Extremera V, et al. Among authors: marti carrera i. Neurologia (Engl Ed). 2020 Jul 8:S0213-4853(20)30137-7. doi: 10.1016/j.nrl.2020.04.025. Online ahead of print. Neurologia (Engl Ed). 2020. PMID: 32653103 Free article. English, Spanish.
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.
Armangue T, Olivé-Cirera G, Martínez-Hernandez E, Sepulveda M, Ruiz-Garcia R, Muñoz-Batista M, Ariño H, González-Álvarez V, Felipe-Rucián A, Jesús Martínez-González M, Cantarín-Extremera V, Concepción Miranda-Herrero M, Monge-Galindo L, Tomás-Vila M, Miravet E, Málaga I, Arrambide G, Auger C, Tintoré M, Montalban X, Vanderver A, Graus F, Saiz A, Dalmau J; Spanish Pediatric anti-MOG Study Group. Armangue T, et al. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Lancet Neurol. 2020. PMID: 32057303
17 results