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Frédérique Rau

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
2010 · Chantal Sellier, Frédérique Rau, et al. · The EMBO Journal · 364
A Liquid to Solid Phase Transition Underlying Pathological Huntingtin Exon1 Aggregation
2018 · Thomas R. Peskett, Frédérique Rau, et al. · Molecular Cell · 328
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Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
2011 · Frédérique Rau, Fernande Freyermuth, et al. · Nature Structural & Molecular Biology · 303
TDP-43 condensation properties specify its RNA-binding and regulatory repertoire
2021 · Martina Hallegger, Anob M. Chakrabarti, et al. · Cell · 247
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
2016 · Fernande Freyermuth, Frédérique Rau, et al. · Nature Communications · 221
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Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
2017 · Arandel Ludovic, Polay-Espinosa Micaela, et al. · Disease Models & Mechanisms · 112
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Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
2015 · Frédérique Rau, Jeanne Lainé, et al. · Nature Communications · 104
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Reversal of RNA toxicity in myotonic dystrophy via a decoy RNA-binding protein with high affinity for expanded CUG repeats
2022 · Ludovic Arandel, Magdalena Matloka, et al. · Nature Biomedical Engineering · 45
Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle
2016 · Pauline Roy, Fredérique Rau, et al. · Skeletal Muscle · 39
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Cells of Matter—In Vitro Models for Myotonic Dystrophy
2018 · Magdalena Matloka, Arnaud F. Klein, et al. · Frontiers in Neurology · 24
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MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination
2024 · Charles Frison-Roche, Célia Martin Demier, et al. · Brain · 10
Single-nucleotide resolution profiling reveals dynamic and site-specific m⁶A regulation during human myogenesis
2026 · Pierre Klein, Krizia Ronquillo, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
04INV Central nucleation in myotonic dystrophy: beyond classical degeneration–regeneration
2026 · Vanessa Todorow, Xavière Lornage, et al. · Neuromuscular Disorders
MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1
2026 · Vanessa Todorow, Xavière Lornage, et al. · Nature Communications
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Circulating Biomarkers of Brain Dysfunction in Myotonic Dystrophy type 1 (DM1)
2026 · Strevinas, Panagiotis, Rau, Frederique, et al. · Zenodo (CERN European Organization for Nuclear Research)
Development of circulating muscle-specific biomarkers of Myotonic Dystrophy
2025 · Gavra, Vasilina-Zafeira, rau, frederique, et al. · Zenodo (CERN European Organization for Nuclear Research)
374PNew conditional mouse model for myotonic dystrophy expressing the human DMPK gene carrying large CTG expansions in striated muscles
2025 · D. Furling, A. Sureau, et al. · Neuromuscular Disorders
MBNL deficiency in spinal motor neurons compromises neuromuscular junction maintenance and gait coordination: implication for Myotonic Dystrophy
2023 · Frison-Roche, Charles, Cottin, Steve, et al. · HAL
MBNL proteins are required for adult skeletal muscle homeostasis and maintenance
2022 · Lornage, Xavière, Ney, Michel, et al. · HAL
Decoy gene therapy to reverse RNA toxicity in DM1
2022 · Arandel, Ludovic, Klein, Arnaud, F, et al. · HAL
MBNL loss of function in the motor unit alters neuromuscular communication
2022 · Frison-Roche, Charles, Cottin, Steve, et al. · HAL
MBNL loss of function in motoneurons leads to motor unit dysfunction in myotonic dystrophy
2021 · Frison-Roche, Charles, Cottin, Steve, et al. · HAL
MBNL loss of function in motoneurons and motor unit dysfunction in myotonic dystrophy
2020 · Frison-Roche, Charles, Messéant, Julien, et al. · HAL
Consequences of impaired MBNL function in motoneurons on the motor unit
2019 · Frison-Roche, Charles, Messéant, Julien, et al. · HAL
A Decoy-Based Gene Therapy to Inhibit RNA Toxicity Associated with Expanded CUG
2019 · Arandel, Ludovic, Matloka, Magdalena, et al. · HAL
Works count: 30
Citation count: 1,798
H-index: 10
I10-index: 11
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