Agnes Rotig (Agnes Rötig, Agnès Rötig)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 25

Top Topics

Duchenne Muscular Dystrophy

Capillary Electrophoresis

Gene Expression

Top Venues

Neurology. Genetics

Nature metabolism

Life (Basel, Switzerland)

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff, Pascale De Lonlay, Mélodie Aubart, Marianne Alison, Marianne Jaroussie, Raphaël Levy, Volodia Dangouloff-Ros, Giulia Barcia, Isabelle Desguerre, Arnold Munnich, Cyril Gitiaux, Nathalie Boddaert
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy. Neurology 102 (11) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff, Pascale De Lonlay, Mélodie Aubart, Marianne Alison, Marianne Jaroussie, Raphaël Levy, Volodia Dangouloff-Ros, Giulia Barcia, Isabelle Desguerre, Arnold Munnich, Cyril Gitiaux, Nathalie Boddaert
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy. Neurology 102 (11) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Kalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschke, Fabienne Jabot-Hanin, Agnes Rotig, Sophie Monnot, Arnold Munnich, Nelly Frydman, Julie Steffann
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases. Human reproduction (Oxford, England) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnes Rotig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice. Nature communications 13 (1) (2022)
Lucile Boutaud, Benedetta Ruzzenente, Aude Tessier, Olivia Anselem, Emmanuelle Pannier, Sarah Grotto, Naïma Talhi, Daniel Amram, Marjolaine Willems, Constance Wells, Patricia Blanchet, Yuri Musizzano, Clémence Jauny, Patrick Nitschke, Christine Bole-Feysot, Bettina Bessières, Houria Salhi, Amale Achaiaa, Metodi D Metodiev, Ferechte Razavi, Agnes Rotig, Laurence Loeuilllet, Tania Attié-Bitach
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect. Brain : a journal of neurology (2022)
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Claire Ewenczyk, Kayli C Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan Robert E Ansell, Ivo van der Stelt, Katherine B Howell, Marie Coutelier, David J Amor, Emeline Mundwiller, Lena Guillot-Noël, Elsdon Storey, R J McKinlay Gardner, Mathew J Wallis, Alfredo Brusco, Olga Corti, Agnes Rotig, Richard J Leventer, Alexis Brice, Martin B Delatycki, Giovanni Stevanin, Paul J Lockhart, Alexandra Dürr
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of neurology 92 (1) (2022)
Klervie Loiselet, Benedetta Ruzzenente, Charles-Joris Roux, Giulia Barcia, Alessandra Pennisi, Isabelle Desguerre, Agnes Rotig, Arnold Munnich, Nathalie Boddaert, null null
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders. Developmental medicine and child neurology 63 (6) (2021)
Romain Duval, Gaël Nicolas, Alexandra Willemetz, Yoshiko Murakami, Mahmoud Mikdar, Cedric Vrignaud, Hisham Megahed, Jean-Pierre Cartron, Cecile Masson, Samer Wehbi, Bérengere Koehl, Marie Hully, Karine Siquier, Nicole Chemlay, Agnes Rotig, Stanislas Lyonnet, Yves Colin, Giulia Barcia, Vincent Cantagrel, Caroline Le Van Kim, Olivier Hermine, Taroh Kinoshita, Thierry Peyrard, Slim Azouzi
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood 137 (26) (2021)
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean François Deleuze, Agnes Rotig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature communications 11 (1) (2020)
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnes Rotig, Metodi D Metodiev, Benedetta Ruzzenente
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. European journal of human genetics : EJHG 29 (3) (2020)
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean François Deleuze, Agnes Rotig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature communications 11 (1) (2020)
Christelle Durrant, Jana I Fuehring, Alexandra Willemetz, Dominique Chrétien, Giusy Sala, Riccardo Ghidoni, Abram Katz, Agnes Rotig, Monica Thelestam, Myriam Ermonval, Stuart E H Moore
Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium. International journal of molecular sciences 21 (6) (2020)