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Page 1
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain. Lasa-Aranzasti A, et al. Mov Disord. 2024 Sep;39(9):1578-1591. doi: 10.1002/mds.29881. Epub 2024 Jun 16. Mov Disord. 2024. PMID: 38881224
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 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018. Brain. 2024. PMID: 38242545 Free PMC article.
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 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). 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.
18 results