Agnès Rötig

21PUBLICATIONS
151CO-AUTHORS
Medical devicesNeurology and neuromuscular diseasesMedical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)Infant and child health
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Publications (21)

|Oct 04, 2026
Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

|Apr 02, 2026
Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Alessandra Torraco, Charlotte L Alston, Giulia Barcia

|Mar 27, 2026
No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

Manon Marchais, Alessandra Pennisi, Alexandre Pierga

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Apr 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signature.

Fatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov

|Apr 02, 2025
Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders.

Paula Rubens, Anne Mayeur, Kalliopi Chatzovoulou

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Frequent Collaborators

5 joint publications

Manuel Schiff

4 joint publications

Giulia Barcia

4 joint publications

Nathalie Boddaert

4 joint publications

Charles-Joris Roux