| Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism T López-Hernández, MC Ridder, M Montolio, X Capdevila-Nortes, ... The American Journal of Human Genetics, 2011 | 191 | 2011 |
| Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19 A Duarri, J Jezierska, M Fokkens, M Meijer, HJ Schelhaas, ... Annals of neurology 72 (6), 870-880, 2012 | 156 | 2012 |
| Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia EAR Nibbeling, A Duarri, CC Verschuuren-Bemelmans, MR Fokkens, ... Brain 140 (11), 2860-2878, 2017 | 119 | 2017 |
| Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model A Duarri, ML de Heredia, X Capdevila-Nortes, MC Ridder, M Montolio, ... Neurobiology of disease, 2011 | 87 | 2011 |
| Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation MC Ridder, I Boor, JC Lodder, NL Postma, X Capdevila-Nortes, A Duarri, ... Brain, 2011 | 80 | 2011 |
| Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects A Duarri, O Teijido, T López-Hernández, GC Scheper, H Barriere, I Boor, ... Human molecular genetics 17 (23), 3728-3739, 2008 | 73 | 2008 |
| First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy K Smets, A Duarri, T Deconinck, B Ceulemans, BP van de Warrenburg, ... BMC medical genetics 16, 1-7, 2015 | 61 | 2015 |
| Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23 CJLM Smeets, J Jezierska, H Watanabe, A Duarri, MR Fokkens, M Meijer, ... Brain 138 (9), 2537-2552, 2015 | 40 | 2015 |
| Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases A Duarri, EAR Nibbeling, MR Fokkens, M Meijer, M Boerrigter, ... PLoS One 10 (3), e0116599, 2015 | 38 | 2015 |
| The N-terminal domain of the human eIF2β subunit and the CK2 phosphorylation sites are required for its function F Llorens, A Duarri, E Sarró, N Roher, M Plana, E Itarte Biochemical Journal 394 (1), 227-236, 2006 | 38 | 2006 |
| Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4. 3 channel function and gating in a dominant manner A Duarri, MCA Lin, MR Fokkens, M Meijer, CJLM Smeets, EAR Nibbeling, ... Cellular and molecular life sciences 72, 3387-3399, 2015 | 33 | 2015 |
| Cell therapy with hiPSC-derived RPE cells and RPCs prevents visual function loss in a rat model of retinal degeneration A Salas, A Duarri, L Fontrodona, DM Ramírez, A Badia, H Isla-Magrané, ... Molecular Therapy-Methods & Clinical Development 20, 688-702, 2021 | 27 | 2021 |
| The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together A Duarri, E Nibbeling, MR Fokkens, M Meijer, E Boddeke, E Lagrange, ... Neurogenetics 14, 257-258, 2013 | 26* | 2013 |
| Multiocular organoids from human induced pluripotent stem cells displayed retinal, corneal, and retinal pigment epithelium lineages H Isla-Magrané, A Veiga, J García-Arumí, A Duarri Stem cell research & therapy 12, 1-17, 2021 | 24 | 2021 |
| Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective R Estevez, X Elorza-Vidal, H Gaitan-Penas, C Perez-Rius, ... European Journal of Medical Genetics 61 (1), 50-60, 2018 | 23 | 2018 |
| Repeated topical administration of 3 nm cerium oxide nanoparticles reverts disease atrophic phenotype and arrests neovascular degeneration in AMD mouse models A Badia, A Duarri, A Salas, J Rosell, J Ramis, MF Gusta, E Casals, ... ACS nano 17 (2), 910-926, 2023 | 21 | 2023 |
| Repopulation of decellularized retinas with hiPSC-derived retinal pigment epithelial and ocular progenitor cells shows cell engraftment, organization and differentiation M Maqueda, JL Mosquera, J García-Arumí, A Veiga, A Duarri Biomaterials 276, 121049, 2021 | 19 | 2021 |
| Transplantation of human induced pluripotent stem cell-derived retinal pigment epithelium in a swine model of geographic atrophy A Duarri, E Rodríguez-Bocanegra, G Martínez-Navarrete, M Biarnés, ... International journal of molecular sciences 22 (19), 10497, 2021 | 16 | 2021 |
| Transcriptomics analysis of Ccl2/Cx3cr1/Crb1rd8 deficient mice provides new insights into the pathophysiology of progressive retinal degeneration A Badia, A Salas, A Duarri, B Ferreira-de-Souza, MÁ Zapata, ... Experimental Eye Research 203, 108424, 2021 | 14 | 2021 |
| Impaired proteostasis in rare neurological diseases N Osinalde, A Duarri, J Ramirez, R Barrio, GP de Nanclares, U Mayor Seminars in Cell & Developmental Biology 93, 164-177, 2019 | 14 | 2019 |
Dineke VerbeekAssociate professor, University of Groningen在 umcg.nl 的电子邮件经过验证
