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Mitochondrion|July 27, 2010
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutationChristophe Verny, Naig Guegen, Valerie Desquiret, et al.International Journal of Cancer|June 29, 2004
Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumorsKarmen Stankov, Alessandro Pastore, Luca Toschi, et al.Biochimica Et Biophysica Acta|February 7, 2012
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELASValerie Desquiret-Dumas, Naig Gueguen, Magalie Barth, et al.Mitochondrion|November 11, 2009
Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicityVirginie Guillet, Arnaud Chevrollier, Julien Cassereau, et al.The Journal of Pediatrics|May 22, 2010
Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosisJuliette Mazereeuw-Hautier, Peter H Hoeger, Sarah Benlahrech, et al.Biochemical and Biophysical Research Communications|July 5, 2020
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferationRomain Da Costa, Steven De Almeida, Martin Chevarin, et al.Clinical Genetics|February 21, 2024
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesCamille Engel, Martin Chevarin, Juliette Piard, et al.Journal of the American Academy of Dermatology|May 15, 2010
Segmental and nonsegmental childhood vitiligo has distinct clinical characteristics: a prospective observational studyJuliette Mazereeuw-Hautier, Sophie Bezio, Emmanuel Mahe, et al.European Journal of Medical Genetics|August 18, 2020
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutationNawale Hadouiri, Veronique Darmency, Laurent Guibaud, et al.American Journal of Medical Genetics. Part A|February 5, 2008
Perrault syndrome: report of four new cases, review and exclusion of candidate genesSandrine Marlin, Didier Lacombe, Laurence Jonard, et al.Pageof 33