P. Gaignard

发表

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

M. Schumacher, A. Slama, P. Gaignard, 2018, Journal of neuroendocrinology.

Brain White Matter Lesions and Presumed Crohn’s Disease: Did You Consider MNGIE?

R. Benamouzig, N. Shor, P. Gaignard, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma.

S. Richard, G. De Velasco, J. Scoazec, 2021, European journal of cancer.

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

P. Bénit, J. Harper, J. Paulo, 2016, eLife.

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

M. Schumacher, A. Slama, P. Gaignard, 2015, Endocrinology.

Additive Protective Effects of Sacubitril/Valsartan and Bosentan on Vascular Remodeling in Experimental Pulmonary Hypertension.

M. Humbert, L. Savale, Marie-Camille Chaumais, 2020, Cardiovascular research.

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.

A. Slama, A. Cano, B. Chabrol, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Cholesterol accumulation induced by acetylated LDL exposure modifies the enzymatic activities of the TCA cycle without impairing the respiratory chain functionality in macrophages.

A. Imbard, N. Fournier, A. Blondel, 2022, Biochimie.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

A. Rötig, I. Durand-zaleski, C. Florentz, 2013, Journal of Medical Genetics.

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation

P. van Endert, A. Imbard, P. Laforêt, 2022, Neurology: Genetics.

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

A. Imbard, A. Slama, Z. Demir, 2020, Molecular genetics and metabolism.

Mitochondrial dysfunction caused by novel ATAD3A mutations.

T. Wai, A. Gelot, N. Dorison, 2020, Molecular genetics and metabolism.

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

O. Boespflug-Tanguy, P. de Lonlay, A. Slama, 2017, Molecular genetics and metabolism.

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

A. Slama, E. Jacquemin, P. Gaignard, 2013, JIMD reports.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

A. Munnich, N. Boddaert, A. Rötig, 2020, Journal of medical genetics.

[Mitochondrial neurogastrointestinal encephalopathy disease].

F. Rivier, N. Leboucq, A. Slama, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

M. Schumacher, A. Slama, P. Gaignard, 2017, Front. Aging Neurosci..

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

A. Slama, P. Gaignard, P. Thérond, 2017, Journal of Human Genetics.

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

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

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

D. Boichard, L. Helary, C. Péchoux, 2017, PLoS genetics.

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy

T. Wai, A. Slama, P. Gaignard, 2022, Brain : a journal of neurology.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

A. Servais, G. Touati, A. Brassier, 2021, Molecular genetics and metabolism reports.

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

C. Caillaud, P. Gaignard, J. Fagart, 2013, Gene.

Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.

E. Jacquemin, P. Gaignard, P. Thérond, 2014, Molecular genetics and metabolism.

Long-term liver disease in methylmalonic and propionic acidemias.

A. Imbard, G. Touati, A. Slama, 2018, Molecular genetics and metabolism.

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

M. Schumacher, C. Mattern, A. Slama, 2019, Neuropharmacology.

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

M. Schumacher, C. Mattern, A. Slama, 2016, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

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

L. Servais, A. Slama, M. Schiff, 2016, JIMD reports.

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

F. Cambien, A. Lusis, C. Proust, 2016, Cardiovascular research.

Expanding the phenotype of mitochondrial disease: novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.

M. Lombès, M. Hully, M. Rio, 2020, Mitochondrion.

Steroids in Stroke with Special Reference to Progesterone

M. Schumacher, Xiaoyan Zhu, A. Slama, 2018, Cellular and Molecular Neurobiology.

Targeting mitochondrial function in macrophages: A novel treatment strategy for atherosclerotic cardiovascular disease?

P. Gaignard, P. Thérond, Pierre-Hadrien Becker, 2023, Pharmacology & therapeutics.

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

A. Echaniz-Laguna, V. Biancalana, P. Gaignard, 2018, BMJ Case Reports.

Additive protective effects of sacubitril/valsartan and bosentan on vascular remodeling in experimental pulmonary hypertension

M. Humbert, L. Savale, C. Guignabert, 2020 .

Steroids in Stroke with Special Reference to Progesterone

M. Schumacher, Xiaoyan Zhu, A. Slama, 2018, Cellular and Molecular Neurobiology.

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

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

UQCRC2-related mitochondrial complex III deficiency, about 7 patients.

L. Faivre, C. Philippe, P. Gaignard, 2022, Mitochondrion.

Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis. Five Years of Experience in a Clinical Laboratory.

C. Bouvattier, C. Verstuyft, P. Gaignard, 2021, Clinical chemistry.

[Mitochondrial neurogastrointestinal encephalopathy disease].

N. Leboucq, P. Gaignard, C. Jeandel, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.