A. Duarri

发表

Transplantation of Human Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium in a Swine Model of Geographic Atrophy

Á. Raya, J. Monés, G. Martínez-Navarrete, 2021, International journal of molecular sciences.

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

M. Palacín, R. Estévez, V. Nunes, 2018, European journal of medical genetics.

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Cleo C. van Diemen, C. Wijmenga, R. Sinke, 2017, Brain : a journal of neurology.

Transcriptomics analysis of Ccl2/Cx3cr1/Crb1rd8 deficient mice provides new insights into the pathophysiology of progressive retinal degeneration.

M. Zapata, J. Garcia-Arumi, Laura Fontrodona, 2020, Experimental eye research.

Impaired proteostasis in rare neurological diseases.

R. Barrio, U. Mayor, A. Duarri, 2019, Seminars in cell & developmental biology.

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

S. Züchner, R. Schüle, B. Ceulemans, 2015, BMC Medical Genetics.

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19

C. Wijmenga, M. Swertz, R. Sinke, 2012, Annals of neurology.

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.

Margreet C. Ridder, B. Fakler, G. Scheper, 2011, American journal of human genetics.

All-trans retinoic acid modulates pigmentation, neuroretinal maturation, and corneal transparency in human multiocular organoids

J. Garcia-Arumi, A. Duarri, Helena Isla-Magrané, 2022, Stem cell research & therapy.

The N-terminal domain of the human eIF2beta subunit and the CK2 phosphorylation sites are required for its function.

N. Roher, M. Plana, E. Itarte, 2006, The Biochemical journal.

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.

G. Lukács, G. Scheper, M. Palacín, 2008, Human molecular genetics.

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

Margreet C. Ridder, G. Scheper, M. Knaap, 2011, Neurobiology of Disease.

Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2015, neurogenetics.

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

R. Sinke, H. Kampinga, D. Papazian, 2015, Cellular and Molecular Life Sciences.

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2013, neurogenetics.

University of Groningen Mutations in Potassium Channel KCND 3 Cause Spinocerebellar Ataxia Type 19

C. Wijmenga, M. Swertz, R. Sinke, 2012 .

Generation of six multiple sclerosis patient-derived induced pluripotent stem cell lines.

X. Montalban, Á. Raya, M. Comabella, 2017, Stem cell research.

Multiocular organoids from human induced pluripotent stem cells displayed retinal, corneal, and retinal pigment epithelium lineages

J. Garcia-Arumi, A. Veiga, A. Duarri, 2021, Stem cell research & therapy.

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

R. Sinke, B. Kremer, E. Boddeke, 2015, PloS one.

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.

J. C. Lodder, H. Mansvelder, G. Scheper, 2011, Brain : a journal of neurology.

Cross talk between protein kinase CK2 and eukaryotic translation initiation factor eIF2β subunit

Lorenzo A. Pinna, N. Roher, M. Plana, 2005, Molecular and Cellular Biochemistry.

Megalencephalic leukoencephalopathy with subcortical cysts : defect in chloride currents and cell volume regulation

J. C. Lodder, H. Mansvelder, G. Scheper, 2013 .

Cell therapy with hiPSC-derived RPE cells and RPCs prevents visual function loss in a rat model of retinal degeneration

Á. Raya, M. Zapata, J. Garcia-Arumi, 2021, Molecular therapy. Methods & clinical development.

Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.

H. Kampinga, W. D. den Dunnen, G. Bakalkin, 2015, Brain : a journal of neurology.

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

J. Garcia-Arumi, A. Duarri, Maddalen Zufiaurre-Seijo, 2023, International journal of molecular sciences.

Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2015, neurogenetics.

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2013, neurogenetics.

Repeated Topical Administration of 3 nm Cerium Oxide Nanoparticles Reverts Disease Atrophic Phenotype and Arrests Neovascular Degeneration in AMD Mouse Models.

M. Zapata, J. Garcia-Arumi, V. Puntes, 2023, ACS nano.

University of Groningen Functional Analysis Helps to Define KCNC 3 Mutational Spectrum in Dutch Ataxia Cases

R. Sinke, B. Kremer, E. Boddeke, 2018 .

Neovascular Progression and Retinal Dysfunction in the Laser-Induced Choroidal Neovascularization Mouse Model

M. Zapata, Laura Fontrodona, A. Duarri, 2023, Biomedicines.

The principal mechanism underlying megalencephalic leukoencephalopathy with subcortical cysts, implications for white matter water homeostatis

J. C. Lodder, Margreet C. Ridder, H. Mansvelder, 2013 .