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Lista de obras de Pauline Gaignard

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

scientific article published on 27 February 2016

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health

artículo científico publicado en 2017

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients

artículo científico publicado en 2012

Effect of Sex Differences on Brain Mitochondrial Function and Its Suppression by Ovariectomy and in Aged Mice

artículo científico publicado en 2015

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

artículo científico publicado en 2017

Intranasal administration of progesterone: A potential efficient route of delivery for cerebroprotection after acute brain injuries

artículo científico publicado en 2018

Long-term liver disease in methylmalonic and propionic acidemias.

artículo científico publicado en 2018

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

artículo científico publicado en 2013

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

artículo científico publicado en 2013

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

artículo científico publicado en 2013

Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis

artículo científico publicado en 2018

Progesterone reduces brain mitochondrial dysfunction after transient focal ischemia in male and female mice

artículo científico publicado en 2015

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

artículo científico publicado en 2016

Role of Sex Hormones on Brain Mitochondrial Function, with Special Reference to Aging and Neurodegenerative Diseases.

artículo científico publicado en 2017

Role of lipid phosphate phosphatase 3 in human aortic endothelial cell function

artículo científico publicado en 2016

Sex differences in brain mitochondrial metabolism: influence of endogenous steroids and stroke

artículo científico publicado en 2017

Steroids in Stroke with Special Reference to Progesterone

article

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.

artículo científico publicado en 2017

[Mitochondrial neurogastrointestinal encephalopathy disease]

scientific article published on 02 October 2014

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