Filtros de búsqueda

Lista de obras de

A transgenic minipig model of Huntington's Disease

artículo científico publicado en 2013

A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies

artículo científico publicado en 2018

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease

scientific article published on 26 July 2019

Disturbances of mitochondrial parameters to distinguish patients with depressive episode of bipolar disorder and major depressive disorder

artículo científico publicado en 2019

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase

artículo científico publicado en 2007

Loss of function of Sco1 and its interaction with cytochrome c oxidase

artículo científico publicado en 2009

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

artículo científico publicado en 2012

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

artículo científico publicado en 2010

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

artículo científico publicado en 2005

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

artículo científico publicado en 2020

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

artículo científico publicado en 2005

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda