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Epilepsia|February 13, 2008
Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditionsYoung Mock Lee, Hoon Chul Kang, Joon Soo Lee, et al.
Endocrine-Related Cancer|May 23, 2013
Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cellsSégolène Hescot, Abdelhamid Slama, Anne Lombès, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
New spastic paraplegia phenotype associated to mutation of NFU1Davide Tonduti, Imen Dorboz, Apolline Imbard, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 8, 2018
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alterationMarie Muller, Marine Guillaud-Bataille, Julia Salleron, et al.
Hormones & Cancer|July 17, 2014
The lack of antitumor effects of o,p'DDA excludes its role as an active metabolite of mitotane for adrenocortical carcinoma treatmentSégolène Hescot, Angelo Paci, Atmane Seck, et al.
Mitochondrion|January 28, 2014
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiencyMathilde Nizon, Audrey Boutron, Nathalie Boddaert, et al.
Brain : a Journal of Neurology|November 23, 2022
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathyClaire Pujol, Elise Lebigot, Pauline Gaignard, et al.
Journal of Neurology|March 3, 2005
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentationGérard Said, Catherine Lacroix, Violaine Planté-Bordeneuve, et al.
Mitochondrion|April 3, 2014
Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantityMatthew J Fraidakis, Claude Jardel, Stéphane Allouche, et al.
JIMD Reports|February 28, 2016
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle VariantsJuliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, et al.
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