List of works - Anna Duarri

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

scientific article published on 01 June 2005

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

scientific article published on 12 July 2015

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

scholarly article published in Neurogenetics

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

scientific article

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

scientific article

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

scientific article published on 7 June 2017

Impaired proteostasis in rare neurological diseases

article

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

scientific article published on April 3, 2011

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

scientific article

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

scientific article published on 24 October 2017

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

scientific article

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

scientific article published in December 2012

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

scientific article

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

scientific article

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

scientific article published in February 2006

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

scientific article published on 26 December 2020

List of works by Anna Duarri

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

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

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

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

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

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

Impaired proteostasis in rare neurological diseases

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

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

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

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

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

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

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

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

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