Duarri A[Author] - Search Results

Year	Number of Results
2005	1
2006	1
2008	1
2011	3
2012	1
2013	1
2015	5
2017	3
2018	2
2019	1
2020	1
2021	1

1

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS. Nibbeling EAR, et al. Among authors: duarri a. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251. Brain. 2017. PMID: 29053796

2

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

Estévez R, Elorza-Vidal X, Gaitán-Peñas H, Pérez-Rius C, Armand-Ugón M, Alonso-Gardón M, Xicoy-Espaulella E, Sirisi S, Arnedo T, Capdevila-Nortes X, López-Hernández T, Montolio M, Duarri A, Teijido O, Barrallo-Gimeno A, Palacín M, Nunes V. Estévez R, et al. Among authors: duarri a. Eur J Med Genet. 2018 Jan;61(1):50-60. doi: 10.1016/j.ejmg.2017.10.013. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079544 Review.

3

Impaired proteostasis in rare neurological diseases.

Osinalde N, Duarri A, Ramirez J, Barrio R, Perez de Nanclares G, Mayor U. Osinalde N, et al. Among authors: duarri a. Semin Cell Dev Biol. 2019 Sep;93:164-177. doi: 10.1016/j.semcdb.2018.10.007. Epub 2018 Nov 3. Semin Cell Dev Biol. 2019. PMID: 30355526 Review.

4

Transcriptomics analysis of Ccl2/Cx3cr1/Crb1^rd8 deficient mice provides new insights into the pathophysiology of progressive retinal degeneration.

Badia A, Salas A, Duarri A, Ferreira-de-Souza B, Zapata MÁ, Fontrodona L, García-Arumí J. Badia A, et al. Among authors: duarri a. Exp Eye Res. 2021 Feb;203:108424. doi: 10.1016/j.exer.2020.108424. Epub 2020 Dec 26. Exp Eye Res. 2021. PMID: 33373623

5

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

Smeets CJ, Jezierska J, Watanabe H, Duarri A, Fokkens MR, Meijer M, Zhou Q, Yakovleva T, Boddeke E, den Dunnen W, van Deursen J, Bakalkin G, Kampinga HH, van de Sluis B, Verbeek DS. Smeets CJ, et al. Among authors: duarri a. Brain. 2015 Sep;138(Pt 9):2537-52. doi: 10.1093/brain/awv195. Epub 2015 Jul 12. Brain. 2015. PMID: 26169942

6

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

Miquel-Serra L, Duarri A, Muñoz Y, Kuebler B, Aran B, Costa C, Martí M, Comabella M, Malhotra S, Montalban X, Veiga A, Raya A. Miquel-Serra L, et al. Among authors: duarri a. Stem Cell Res. 2017 Oct;24:155-159. doi: 10.1016/j.scr.2017.06.001. Epub 2017 Jun 7. Stem Cell Res. 2017. PMID: 29034884 Free article.

7

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

Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS. Duarri A, et al. Cell Mol Life Sci. 2015 Sep;72(17):3387-99. doi: 10.1007/s00018-015-1894-2. Epub 2015 Apr 9. Cell Mol Life Sci. 2015. PMID: 25854634 Free PMC article.

8

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

Ridder MC, Boor I, Lodder JC, Postma NL, Capdevila-Nortes X, Duarri A, Brussaard AB, Estévez R, Scheper GC, Mansvelder HD, van der Knaap MS. Ridder MC, et al. Among authors: duarri a. Brain. 2011 Nov;134(Pt 11):3342-54. doi: 10.1093/brain/awr255. Epub 2011 Oct 17. Brain. 2011. PMID: 22006981

9

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. Duarri A, et al. PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015. PLoS One. 2015. PMID: 25756792 Free PMC article.

10

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

Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Züchner S, Gonzalez MA, Schüle R, Synofzik M, Van der Aa N, De Jonghe P, Verbeek DS, Baets J. Smets K, et al. Among authors: duarri a. BMC Med Genet. 2015 Jul 21;16:51. doi: 10.1186/s12881-015-0200-3. BMC Med Genet. 2015. PMID: 26189493 Free PMC article.

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