Agnès Rötig

1959 -

country of citizenship: France

languages spoken, written or signed: French, English

educated at: French National Institute of Health and Medical Research

occupation: biologist

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Articles 141

Date

Title

Authors

2020-03-16

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

Jana I Fuehring, Agnès Rötig
2020-09-11

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Karim Harhouri, Hülya Kayserili, Nihal Al Menabawy, Davor Lessel, Jean-François Deleuze, Agnès Rötig, Nathalie Escande-Beillard, Antoine Muchir, Song-Hua Lee, Philippe Manivet, Bruno Reversade, Annachiara De Sandre-Giovannoli
2020-10-19

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Karim Harhouri, Hülya Kayserili, Nihal Al Menabawy, Davor Lessel, Jean-François Deleuze, Agnès Rötig, Nathalie Escande-Beillard, Antoine Muchir, Song-Hua Lee, Philippe Manivet, Bruno Reversade, Annachiara De Sandre-Giovannoli
2020-11-09

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

Giulia Barcia, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente
2018-02-01

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Metodi D Metodiev, Arnold Munnich, Agnès Rötig
2018-03-09

Pitfalls in molecular diagnosis of Friedreich ataxia.

Arnold Munnich, Agnès Rötig
2018-07-25

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

Jan Rehwinkel, Łukasz Borowski, Claudia Ribeiro de Almeida, Andrzej Dziembowski, Roman Szczęsny, Nicholas Jarvis Proudfoot, Arnold Munnich, Agnès Rötig, Yanick J. Crow, Darragh Duffy
2018-06-25

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Holger Prokisch, Heinz Jungbluth, Agnès Rötig
2017-09-28

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Crystel Bonnet, Agnès Rötig, Sandrine Marlin, Olivier Sterkers
2017-01-09

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Julie Steffann, Jean-Paul Bonnefont, Agnès Rötig, Arnold Munnich
2017-02-02

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Sophie Nambot, Julien Thevenon, Marlene Rio, Agnès Rötig, Paul Kuentz
2017-07-28

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

Arnold Munnich, Agnès Rötig
2016-12-28

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

Ulrich Brandt, Jean-michel Rozet, Sylvie Gerber, Xavier Gérard, Marlene Rio, Valérie Serre, Agnès Rötig, Josseline Kaplan, Sylvain Hanein, Arnold Munnich, Patrizia Amati-Bonneau
2016-07-01

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Metodi D Metodiev, Marlene Rio, Helen Griffin, Aleksandra Filipovska, Robert McFarland, Agnès Rötig, Robert William Taylor, Patrick F. Chinnery, Charlotte L Alston, Andrew A Morris, Arnold Munnich, Zarah Assouline, Stefan Siira, Nadia Bahi-Buisson
2016-04-26

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Agnès Rötig, Arnold Munnich, Nadia Bahi-Buisson, Helen Griffin, Aleksandra Filipovska, Angela Pyle, Patrick F. Chinnery, Robert William Taylor, Metodi D Metodiev, Charlotte L Alston, Andrew A Morris, Zarah Assouline, Stefan Siira, Robert McFarland
2016-09-01

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Stanislas Lyonnet, Anne Guimier, Christopher T Gordon, Nigel G Laing, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Loic de Pontual, Jeanne Amiel
2016-12-15

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Thomas Meitinger, Emmanuelle C Genin, Valérie Serre, Koen Van Gassen, Francoise Lespinasse, Jeanne Amiel, Christian Mertes, Julien Gagneur, Agnès Rötig, Holger Prokisch, Graeme Eisenhofer, Robert William Taylor, Tobias B Haack, Tim M Strom
2016-06-29

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Giulia Barcia, Metodi D Metodiev, Marlene Rio, Benoit Funalot, Sergio Guerrero-Castillo, Ulrich Brandt, Richard J Rodenburg, Agnès Rötig
2016-06-21

Mouse models for mitochondrial diseases

Agnès Rötig, Metodi D Metodiev
2015-12-21

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

Enrico Baruffini, Agnès Rötig
2015-06-01

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies

Róża Kucharczyk, Marc Blondel, Natalia Skoczen, Pascal Reynier, Agnès Rötig, Vincent Procaccio
2015-02-26

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Al-Walid Mohsen, Johannes Häberle, Agnès Rötig, Holger Prokisch, Robert William Taylor
2015-12-16

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

Marlene Rio, Metodi D Metodiev, Holger Prokisch, Agnès Rötig
2014-05-01

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

David C. Samuels, Julie Steffann, Sophie Monnot, Agnès Rötig, Jean-Paul Bonnefont, Alexandra Benachi, Nelly Frydman, Nadine Gigarel, Arnold Munnich, Roxana Borghese
2014-10-28

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Anna Kaminska, Jeanne Amiel, Jean-michel Rozet, Xavier Gérard, Metodi D Metodiev, Sylvie Gerber, Josseline Kaplan, Nathalie Boddaert, Arnold Munnich, Agnès Rötig, Dominique Chrétien, Isabelle Desguerre, Claude Besmond, Agnès Delahodde, Patrizia Amati-Bonneau
2014-08-20

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Holger Prokisch, Agnès Rötig, Eliska Holzerova, Johannes A Mayr, Patrick F. Chinnery, Robert William Taylor, Tobias B Haack, Mehnaz Atiq, Uwe Ahting, René G Feichtinger, Thomas Klopstock
2014-04-24

Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations

David Grevent, Marlene Rio, Agnès Rötig, Nathalie Boddaert
2014-05-01

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

David Grevent, Marlene Rio, Agnès Rötig, Nathalie Boddaert
2014-04-01

Modeling of antigenomic therapy of mitochondrial diseases by mitochondrially addressed RNA targeting a pathogenic point mutation in mitochondrial DNA

Arnold Munnich, Nina Entelis, Mikhail Vysokikh, Mariya Meshchaninova, Ivan Tarassov, Agnès Rötig
2014-11-26

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Thomas Meitinger, Arnold Munnich, Rosalba Carrozzo, Ann Saada, Johannes A Mayr, Enrico Bertini, Thomas J Nicholls, Metodi D Metodiev, Christopher A. Powell, Joanna Rorbach, Masakazu Kohda, Michał Mińczuk, Federica Invernizzi, Eleonora Lamantea, Daniele Ghezzi, Holger Prokisch, Agnès Rötig, Angela Pyle, Patrick F. Chinnery, Massimo Zeviani, Robert William Taylor, Björn Menten, Tobias B Haack, Thomas Wieland, Thomas Klopstock, Tim M Strom, Peter Freisinger, Robert Kopajtich, Kei Murayama, Yasushi Okazaki, Thomas Schwarzmayr, Arnaud V Vanlander, Akira Ohtake, Joél Smet, Rudy Van Coster, Ewen W Sommerville, Hanna Mandel, Yoshihito Kishita
2014-09-17

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

Metodi D Metodiev, Brigitte Bader-Meunier, Agnès Rötig, Arnold Munnich
2014-05-03

Genetics of mitochondrial respiratory chain deficiencies

Agnès Rötig

Human - wd:Q28354286

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