List of works - 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

scientific article

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

scientific article published on 06 October 2012

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

scientific article

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

scientific article

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

scientific article published on 06 June 2018

Long-term liver disease in methylmalonic and propionic acidemias.

scientific article published on 7 February 2018

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

scientific article published on 27 April 2013

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

scientific article published on August 2013

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

scientific article published on 11 July 2013

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

scientific article published on 11 June 2018

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

scientific article published on 14 October 2015

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

scientific article

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

scientific article published on 7 December 2017

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

scientific article published on 30 September 2016

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

scientific article published on 26 June 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.

scientific article published on 9 March 2017

[Mitochondrial neurogastrointestinal encephalopathy disease]

scientific article published on 02 October 2014

List of works by Pauline Gaignard

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

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

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

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

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

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

Long-term liver disease in methylmalonic and propionic acidemias.

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

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

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

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

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

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

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

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

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

Steroids in Stroke with Special Reference to Progesterone

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

[Mitochondrial neurogastrointestinal encephalopathy disease]