Lista de obras - Anna Duarri - Dominio Público Uruguay

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Impaired proteostasis in rare neurological diseases

article

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

artículo científico publicado el 3 de abril de 2011

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

artículo científico publicado en 2011

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

Lista de obras de 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