Anna Duarri - Concepedia

Author

Anna Duarri

Vall d'Hebron Institut de Recerca ORCID

Also Known As

A. Duarri, Anna Duarri, Duarri, Anna

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

Vall d'Hebron Institut de Recerca University of Groningen Institut d'Investigació Biomédica de Bellvitge University Medical Center Groningen Universitat de Barcelona

About

Anna Duarri is an author at Vall d'Hebron Institut de Recerca specializing in medicine, cell biology, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	625
2	Cell Biology	7	7	364
3	Social Sciences	5	5	392
4	Health Sciences	2	2	36
5	Biomedical Engineering	1	1	15

Anna Duarri

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism Tania López-Hernández, Margreet C. Ridder, Marisol Montolio, The American Journal of Human Genetics Neurobiology Of DiseaseNeurological DisorderMedicinePathologyNeurology	2011	189
Mutations in potassium channel <i>kcnd3</i> cause spinocerebellar ataxia type 19 Anna Duarri, Justyna Jezierska, Michiel R. Fokkens, Annals of Neurology	2012	134
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia Esther Nibbeling, Anna Duarri, Corien C. Verschuuren‐Bemelmans, Brain Exome SequencingGeneticsGenetic EpidemiologyNetwork Analysis IdentifiesGene Characterization	2017	121
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation Margreet C. Ridder, Ilja Boor, Johannes C. Lodder, Brain	2011	87
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects Anna Duarri, Óscar Teijido, Tania López-Hernández, Human Molecular Genetics Molecular PathogenesisNeurological DisorderImmunologyPathologyNeural Stem Cell	2008	85
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model Anna Duarri, Miguel López de Heredia, Xavier Capdevila‐Nortes, Neurobiology of Disease Cell VacuolationCell RegulationCell SignalingCell InteractionAutophagy	2011	72
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy Katrien Smets, Anna Duarri, Tine Deconinck, BMC Medical Genetics	2015	67
Repeated Topical Administration of 3 nm Cerium Oxide Nanoparticles Reverts Disease Atrophic Phenotype and Arrests Neovascular Degeneration in AMD Mouse Models Anna Badia, Anna Duarri, Anna Salas, ACS Nano	2023	66
Cell therapy with hiPSC-derived RPE cells and RPCs prevents visual function loss in a rat model of retinal degeneration Anna Salas, Anna Duarri, Laura Fontrodona, Molecular Therapy — Methods & Clinical Development	2021	40
Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23 Cleo J. L. M. Smeets, Justyna Jezierska, Hiroyuki Watanabe, Brain	2015	35

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