Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis

অনুযায়ী Davit-Spraul, Anne, Beinat, Marine, Debray, Dominique, Rötig, Agnes, Slama, Abdelhamid, Jacquemin, Emmanuel
প্রকাশিত 2013

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

অনুযায়ী González-Serrano, Ligia Elena, Karim, Loukmane, Pierre, Florian, Schwenzer, Hagen, Rötig, Agnès, Munnich, Arnold, Sissler, Marie
প্রকাশিত J Biol Chem (2018)

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

অনুযায়ী Weraarpachai, Woranontee, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Auré, Karine, Rötig, Agnès, Lombès, Anne, Shoubridge, Eric A.
প্রকাশিত 2012

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

অনুযায়ী Darin, Niklas, Kadhom, Norman, Brière, Jean-Jacques, Chretien, Dominique, Bébéar, Cécile M, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre
প্রকাশিত 2003

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency()

অনুযায়ী Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.
প্রকাশিত 2013

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

অনুযায়ী Metodiev, Metodi D, Assouline, Zahra, Landrieu, Pierre, Chretien, Dominique, Bader-Meunier, Brigitte, Guitton, Corinne, Munnich, Arnold, Rötig, Agnès
প্রকাশিত Eur J Hum Genet (2015)

Expanding the clinical spectrum of MTTF mutations

অনুযায়ী Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
প্রকাশিত Mol Genet Metab Rep (2019)

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF

অনুযায়ী Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
প্রকাশিত Mol Genet Metab Rep (2019)

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

অনুযায়ী Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès
প্রকাশিত Mol Genet Metab Rep (2019)

The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathw...

অনুযায়ী Gimenez-Roqueplo, Anne-Paule, Favier, Judith, Rustin, Pierre, Mourad, Jean-Jacques, Plouin, Pierre-François, Corvol, Pierre, Rötig, Agnès, Jeunemaitre, Xavier
প্রকাশিত 2001

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

অনুযায়ী Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès
প্রকাশিত 2007

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

অনুযায়ী Hornig-Do, Hue-Tran, Tatsuta, Takashi, Buckermann, Angela, Bust, Maria, Kollberg, Gittan, Rötig, Agnes, Hellmich, Martin, Nijtmans, Leo, Wiesner, Rudolf J
প্রকাশিত 2012

Modeling of Antigenomic Therapy of Mitochondrial Diseases by Mitochondrially Addressed RNA Targeting a Pathogenic Point Mutation in Mitochondrial DNA

অনুযায়ী Tonin, Yann, Heckel, Anne-Marie, Vysokikh, Mikhail, Dovydenko, Ilya, Meschaninova, Mariya, Rötig, Agnès, Munnich, Arnold, Venyaminova, Alya, Tarassov, Ivan, Entelis, Nina
প্রকাশিত 2014

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

অনুযায়ী Valnot, Isabelle, Osmond, Sandrine, Gigarel, Nadine, Mehaye, Blandine, Amiel, Jeanne, Cormier-Daire, Valérie, Munnich, Arnold, Bonnefont, Jean-Paul, Rustin, Pierre, Rötig, Agnès
প্রকাশিত 2000

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

অনুযায়ী Bénit, Paule, Chretien, Dominique, Kadhom, Nohman, de Lonlay-Debeney, Pascale, Cormier-Daire, Valérie, Cabral, Aguinaldo, Peudenier, Sylviane, Rustin, Pierre, Munnich, Arnold, Rötig, Agnès
প্রকাশিত 2001

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

অনুযায়ী Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John
প্রকাশিত 2013

Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium

অনুযায়ী Durrant, Christelle, Fuehring, Jana I., Willemetz, Alexandra, Chrétien, Dominique, Sala, Giusy, Ghidoni, Riccardo, Katz, Abram, Rötig, Agnès, Thelestam, Monica, Ermonval, Myriam, Moore, Stuart E. H.
প্রকাশিত Int J Mol Sci (2020)

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

অনুযায়ী Mollet, Julie, Delahodde, Agnès, Serre, Valérie, Chretien, Dominique, Schlemmer, Dimitri, Lombes, Anne, Boddaert, Nathalie, Desguerre, Isabelle, de Lonlay, Pascale, Ogier de Baulny, Hélène, Munnich, Arnold, Rötig, Agnès
প্রকাশিত 2008

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

অনুযায়ী Vedrenne, Vanessa, Gowher, Ali, De Lonlay, Pascale, Nitschke, Patrick, Serre, Valérie, Boddaert, Nathalie, Altuzarra, Cecilia, Mager-Heckel, Anne-Marie, Chretien, Florence, Entelis, Nina, Munnich, Arnold, Tarassov, Ivan, Rötig, Agnès
প্রকাশিত 2012

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

অনুযায়ী Fragaki, Konstantina, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Gire, Catherine, Mengual, Raymond, Bonesso, Laurent, Bénéteau, Marie, Ricci, Jean-Ehrland, Desquiret-Dumas, Valérie, Procaccio, Vincent, Rötig, Agnès, Paquis-Flucklinger, Véronique
প্রকাশিত 2013