First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
2015 · BMC Medical Genetics · 67 citations
https://doi.org/10.1186/s12881-015-0200-3
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Anna Duarri
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Anna Duarri is an academic researcher from Vall d'Hebron Institut de Recerca. The author has contributed to research in topics: Retinal Development and Disorders & Retinal Diseases and Treatments & Genetic Neurodegenerative Diseases. The author has an h-index of 18, co-authored 35 publications.
ORCID: 0000-0003-4075-5478Papers by this author
worksElevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23
2015 · Brain · 35 citations
https://doi.org/10.1093/brain/awv195
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner
2015 · Cellular and Molecular Life Sciences · 31 citations
https://doi.org/10.1007/s00018-015-1894-2
Generation of six multiple sclerosis patient-derived induced pluripotent stem cell lines
2017 · Stem Cell Research · 15 citations
https://doi.org/10.1016/j.scr.2017.06.001
All-trans retinoic acid modulates pigmentation, neuroretinal maturation, and corneal transparency in human multiocular organoids
2022 · Stem Cell Research & Therapy · 15 citations
https://doi.org/10.1186/s13287-022-03053-1
Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters
2024 · Stem Cell Research · 1 citations
https://doi.org/10.1016/j.scr.2024.103645
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