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miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy
Sanson M, Vu Hong A, Massouridès E, et al.
Scientific Reports, 2020, 10, 1, p 9139
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Guarani V, Jardel C, Chrétien D, et al.
eLife, 2016, 5
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
Schiff M, Veauville-Merllie A, Su CH, et al.
The New England journal of medicine, 2016, 374, 8, p 795
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
Laustriat D, Gide J, Barrault L, et al.
Molecular therapy-nucleic acids, 2015, 4
Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes
Pospisilik JA, Knauf C, Joza N, et al.
Cell, 2007, 131, 3, p 476
S6 kinase deletion suppresses muscle growth adaptations to nutrient availability by activating AMP kinase
Aguilar V, Alliouachene S, Sotiropoulos A, et al.
Cell metabolism, 2007, 5, 6, p. 476-487
Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits
Bonnet C, Kaltimbacher V, Ellouze S, et al.
Rejuvenation research, 2007, 10, 2, p 127
Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples
Bénit P, Goncalves S, Dassa EP, et al.
Clinica chimica acta, 2006, 374, 1-2, p 81
Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal
Brown D, Yu BD, Joza N, et al.
Proceedings of the national Academy of sciences of the United States of America, 2006, 103, 26, p 9918
Long-term follow-up of neonatal mitochondrial cytopathies : a study of 57 patients
Garcia-Cazorla A, de Lonlay P, Nassogne MC, et al.
Pediatrics, 2005, 116, 5, p. 1170-1177
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions
Brière JJ, Favier J, Bénit P, et al.
Human molecular genetics, 2005, 14, 21, p 3263
Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy
Joza N, Oudit GY, Brown D, et al.
Molecular and cellular biology, 2005, 25, 23, p 10261
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
Chol M, Lebon S, Bénit P, et al.
Journal of medical genetics, 2003, 40, p. 188-191
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia
Rustin P, Rötig A, Munnich A, et al.
Free radical research, 2002, 36, 4, p 467
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
Hausse AO, Aggoun Y, Bonnet D, et al.
Heart, 2002, 87, 4, p 346
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
de Lonlay P, Valnot I, Barrientos A, et al.
Nature genetics, 2001, 29, p. 57-60
Les maladies du muscle
Fardeau M, Gillis JM, Lebacq J, et al.
Impact médecin. Les dossiers du praticien PPP, 2000, 485, p 1
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
Valnot I, Osmond S, Gigarel N, et al.
American journal of human genetics (The), 2000, 67, 5, p. 1104-1109
A mutation in the human heme : farnesyl transferase gene (COX 10) causes cytochrome c oxidase deficiency
Valnot I, von Kleist-Retzow JC, Barrientos A, et al.
Human molecular genetics, 2000, 9, 8, p. 1245-1249
Effect of idebenone on cardiomyopathy in Friedreich's ataxia : a preliminary study
Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, et al.
Lancet (Ed. ang.), 1999, 354, p. 477-479
Atteinte rénale au cours des cytopathies mitochondriales
Rötig A, Lehnert A, Chrétien D, et al.
médecine/sciences, 1997, 13, 1, p. 18-27
Dix ans d'exploration des maladies mitochondriales : une collaboration modèle entre chercheurs et cliniciens
Rustin P, Munnich A, Rötig A
médecine/sciences, 1996, 12, N SP, p. 37-43
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
Rötig A, Bourgeron T, Chrétien D, et al.
Human molecular genetics, 1995, 4, 8, p. 1327-1330
Expression of respiratory chain deficiencies in human cultured cells
Bourgeron T, Chrétien D, Amati P, et al.
Neuromuscular disorders : NMD, 1993, 3/5-6, p. 605
