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No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases Marchais, Manon; Pennisi, Alessandra; Pierga, Alexandre; Lepelley, Alice; Cagnard, Nicolas; Bole, Christine; Nitschke, Patrick; Hamici, Mohamed; Rieux-Laucat, Frederic; Schiff, Manuel; Munnich, Arnold; Rotig, Agnes Share Save
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MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults Mandia, Daniele; Metodiev, Metodi D.; Benoist, Jean-francois; Gaignard, Pauline; Ruzzenente, Benedetta; Zuchner, Stephan; Beijer, Danique; Fernandez-eulate, Gorka; Rotig, Agnes; Lamari, Foudil; Rucheton, Benoit; Rouzier, Cecile; Navarro, Lucile Riera; Saadi, Samira Ait-El-Mkadem; Cintas, Pascal; Maquet, Julien; Masingue, Marion; Shor, Natalia; Nadjar, Yann Share Save
Pleiotropic effects of MORC2 derive from its epigenetic signature Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger Share Save
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Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism Marsili, Luisa; Mantecon, Matthieu; Arrondel, Christelle; Barcia, Giulia; Assouline, Zahra; Gribouval, Olivier; Wellesley, Diana; Harrison, Victoria; Marijon, Pierre; Colson, Cindy; Stichelbout, Morgane; Gubler, Marie-Claire; Antignac, Corinne; Rotig, Agnes; Heidet, Laurence Share Save
The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseases Almyre, Claire; Bounaix, Nolwenn; Godard, Francois; Baris, Olivier R.; Cayer, Anne-Louise; Sardin, Elodie; Bouhier, Marine; Hoarau, Anais; Dard, Laetitia; Richard, Jeremy; Bergeron, Vanessa; Renaud, Aurelie; Loaec, Nadege; Gueguen, Naig; Desquiret-Dumas, Valerie; Lelievre, Benedicte; Inisan, Aurore; Panozzo, Cristina; Dujardin, Geneveve; Blondel, Marc; Rotig, Agnes; Paquis-Flucklinger, Veronique; Azoulay, Stephane; Bonnefoy, Nathalie; Sellem, Carole H.; Delahodde, Agnes; Procaccio, Vincent; Tribouillard-Tanvier, Deborah Share Save
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency Rotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel Share Save
Polyradiculoneuritis on MRI An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy Roux, Charles-Joris; Dufeu-Berat, Claire-Marine; Hully, Marie; Rotig, Agnes; Schiff, Manuel; De Lonlay, Pascale; Aubart, Melodie; Alison, Marianne; Jaroussie, Marianne; Levy, Raphael; Dangouloff-Ros, Volodia; Barcia, Giulia; Desguerre, Isabelle; Munnich, Arnold; Gitiaux, Cyril; Boddaert, Nathalie Share Save
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A. Share Save
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023) Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia Share Save
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia Share Save
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases Chatzovoulou, Kalliopi; Mayeur, Anne; Cagnard, Nicolas; Zarhrate, Mohammed; Bole, Christine; Nitschke, Patrick; Jabot-Hanin, Fabienne; Rotig, Agnes; Monnot, Sophie; Munnich, Arnold; Frydman, Nelly; Steffann, Julie Share Save
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy Cafournet, Cerane; Zanin, Sofia; Guimier, Anne; Hully, Marie; Assouline, Zahra; Barcia, Giulia; de Lonlay, Pascale; Steffann, Julie; Munnich, Arnold; Bonnefont, Jean-Paul; Rotig, Agnes; Ruzzenente, Benedetta; Metodiev, Metodi D. Share Save
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect Boutaud, Lucile; Ruzzenente, Benedetta; Tessier, Aude; Anselem, Olivia; Pannier, Emmanuelle; Grotto, Sarah; Talhi, Naima; Amram, Daniel; Willems, Marjolaine; Wells, Constance; Blanchet, Patricia; Musizzano, Yuri; Jauny, Clemence; Nitschke, Patrick; Bole-Feysot, Christine; Bessieres, Bettina; Salhi, Houria; Achaiaa, Amale; Metodiev, Metodi D.; Razavi, Ferechte; Rotig, Agnes; Loeuilllet, Laurence; Attie-Bitach, Tania Share Save
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice Pontoizeau, Clement; Simon-Sola, Marcelo; Gaborit, Clovis; Nguyen, Vincent; Rotaru, Irina; Tual, Nolan; Colella, Pasqualina; Girard, Muriel; Biferi, Maria-Grazia; Arnoux, Jean-Baptiste; Rotig, Agnes; Ottolenghi, Chris; de Lonlay, Pascale; Mingozzi, Federico; Cavazzana, Marina; Schiff, Manuel Share Save
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M.; Ewenczyk, Claire; Davies, Kayli C.; Lino-Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R. E.; van der Stelt, Ivo; Howell, Katherine B.; Coutelier, Marie; Amor, David J.; Mundwiller, Emeline; Guillot-Noel, Lena; Storey, Elsdon; Gardner, R. J. McKinlay; Wallis, Mathew J.; Brusco, Alfredo; Corti, Olga; Rotig, Agnes; Leventer, Richard J.; Brice, Alexis; Delatycki, Martin B.; Stevanin, Giovanni; Lockhart, Paul J.; Durr, Alexandra Share Save
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Ines A.; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G.; Wever, Eric J. M.; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten G.; Chao, Katherine R.; Cai, Chunyu; Iannaccone, Susan T.; Dean, Andrew F.; McFarland, Robert; Vaz, Frederic M.; Delahodde, Agnes; Taylor, Robert W.; Rotig, Agnes Share Save
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