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Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

 Petra Frick , Chantal Sellier , Ian Mackenzie , Chieh-Yu Cheng , Julie Tahraoui-Bories , et al.
Acta Neuropathologica Communications, 2018, 6 (1), ⟨10.1186/s40478-018-0579-0⟩
Article dans une revue hal-03339513v1
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Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome

 Sandra Pourtoy-Brasselet , Axel Sciauvaud , Maria-Gabriela Boza-Moran , Michel Cailleret , Margot Jarrige , et al.
American Journal of Human Genetics, 2021, 108 (11), pp.2171-2185. ⟨10.1016/j.ajhg.2021.10.001⟩
Article dans une revue hal-03409417v1

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

 Arnaud Jacquier , Valérie Risson , Thomas Simonet , Florine Roussange , Nicolas Lacoste , et al.
Acta Neuropathologica, 2022, 144 (4), pp.707-731. ⟨10.1007/s00401-022-02475-8⟩
Article dans une revue hal-03863096v1
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Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

 Susie Barbeau , Romain Desprat , Bruno Eymard , Cécile Martinat , Jean-Marc Lemaitre , et al.
Stem Cell Research, 2020, 49, pp.102106. ⟨10.1016/j.scr.2020.102106⟩
Article dans une revue hal-03146055v1

Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1

 Noémie Bérenger-Currias , Cécile Martinat , Sandrine Baghdoyan
Cells, 2023, 12 (4), pp.571. ⟨10.3390/cells12040571⟩
Article dans une revue hal-04483522v1

Erosion of X Chromosome Inactivation in Human Pluripotent Cells Initiates with XACT Coating and Depends on a Specific Heterochromatin Landscape

 Céline Vallot , Jean-François Ouimette , Mélanie Makhlouf , Olivier Féraud , Julien Pontis , et al.
Cell Stem Cell, 2015, 16 (5), pp.533-546. ⟨10.1016/j.stem.2015.03.016⟩
Article dans une revue hal-03030403v1

Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4

 Eike Strathmann , Irmgard Hölker , Nikolai Tschernoster , Seyyedmohsen Hosseinibarkooie , Julien Come , et al.
American Journal of Human Genetics, 2023, 110 (3), pp.442-459. ⟨10.1016/j.ajhg.2023.02.004⟩
Article dans une revue hal-04483529v1
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A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1.

 Morgane Gauthier , Antoine Marteyn , Jérôme Alexandre Denis , Michel Cailleret , Karine Giraud-Triboult , et al.
Human Molecular Genetics, 2013, 22 (25), pp.5188-98. ⟨10.1093/hmg/ddt373⟩
Article dans une revue inserm-00952767v1

Emerging Opportunities in Human Pluripotent Stem-Cells Based Assays to Explore the Diversity of Botulinum Neurotoxins as Future Therapeutics

 Juliette Duchesne de Lamotte , Anselme Perrier , Cécile Martinat , Camille Nicoleau
International Journal of Molecular Sciences, 2021, 22 (14), pp.7524. ⟨10.3390/ijms22147524⟩
Article dans une revue hal-04456810v1
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In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

 Delphine Laustriat , Jacqueline Gide , Laetitia Barrault , Emilie Chautard , Clara Benoit , et al.
Molecular Therapy - Nucleic Acids, 2015, 4 (11), pp.e262. ⟨10.1038/mtna.2015.35⟩
Article dans une revue hal-01277500v1

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

 Julie Tahraoui-Bories , Antoine Mérien , Anchel González-Barriga , Jeanne Lainé , Céline Leteur , et al.
Neuropathology and Applied Neurobiology, 2023, 49 (1), ⟨10.1111/nan.12876⟩
Article dans une revue hal-03992575v1

Building neuromuscular junctions in vitro

 Susie Barbeau , Julie Tahraoui-Bories , Claire Legay , Cécile Martinat
Development (Cambridge, England), 2020, 147 (22), ⟨10.1242/dev.193920⟩
Article dans une revue hal-04074229v1

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

 Yves Maury , Julien Côme , Rebecca Piskorowski , N. Salah-Mohellibi , Vivien Chevaleyre , et al.
Nature Biotechnology, 2015, 33 (1), pp.89-96. ⟨10.1038/nbt.3049⟩
Article dans une revue hal-01115630v1
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Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

 Remco T P van Cruchten , Daniël van As , Jeffrey C Glennon , Baziel G M van Engelen , K Okkersen , et al.
BMC Medicine, 2022, 20 (1), pp.395. ⟨10.1186/s12916-022-02591-y⟩
Article dans une revue hal-03848010v1

Optogenetically controlled human functional motor endplate for testing botulinum neurotoxins

 Juliette Duchesne de Lamotte , Jérôme Polentes , Florine Roussange , Léa Lesueur , Pauline Feurgard , et al.
Current Stem Cell Research & Therapy, 2021, 12 (1), pp.599. ⟨10.1186/s13287-021-02665-3⟩
Article dans une revue hal-04405156v1
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Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

 Chantal Sellier , Ronald Buijsen , Fang He , Sam Natla , Laura Jung , et al.
Neuron, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩
Article dans une revue inserm-03375211v1

MN dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type 1

 Julie Tahraoui-Bories , Antoine Mérien , Florine Roussange , Anchel Gonzalez-Barriga , Jeanne Lainé , et al.
International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan
Poster de conférence hal-04022921v1

Emerging Opportunities in Human Pluripotent Stem-Cells Based Assays to Explore the Diversity of Botulinum Neurotoxins as Future Therapeutics

 Juliette Duchesne de Lamotte , Anselme Perrier , Cécile Martinat , Camille Nicoleau
International Journal of Molecular Sciences, 2021, 22 (14), pp.7524. ⟨10.3390/ijms22147524⟩
Article dans une revue hal-04405105v1

Expression of miRNAs from the Imprinted DLK1/DIO3 Locus Signals the Osteogenic Potential of Human Pluripotent Stem Cells

 Laetitia Barrault , Jacqueline Gide , Tingting Qing , Lea Lesueur , Jorg Tost , et al.
Cells, 2019, 8 (12), pp.1523. ⟨10.3390/cells8121523⟩
Article dans une revue hal-04384232v1

Generating Functional and Highly Proliferative Melanocytes Derived from Human Pluripotent Stem Cells: A Promising Tool for Biotherapeutic Approaches to Treat Skin Pigmentation Disorders

 Manoubia Saidani , Annabelle Darle , Margot Jarrige , Hélène Polveche , Lina El Kassar , et al.
International Journal of Molecular Sciences, 2023, 24 (7), pp.6398. ⟨10.3390/ijms24076398⟩
Article dans une revue hal-04483511v1

Optogenetically controlled human functional motor endplate for testing botulinum neurotoxins

 Juliette Duchesne de Lamotte , Jérôme Polentes , Florine Roussange , Léa Lesueur , Pauline Feurgard , et al.
Current Stem Cell Research & Therapy, 2021, 12 (1), pp.599. ⟨10.1186/s13287-021-02665-3⟩
Article dans une revue hal-04456799v1
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Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1

 Yves Maury , Pauline Poydenot , Benjamin Brinon , Lea Lesueur , Jacqueline Gide , et al.
iScience, 2019, 11, pp.258-271. ⟨10.1016/j.isci.2018.12.019⟩
Article dans une revue hal-01984689v1

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

 Diana Mihaela Dincã , Louison Lallemant , Anchel González-Barriga , Noemie Cresto , Sandra Braz , et al.
International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan
Poster de conférence hal-04006873v1

Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide

 Pauline Georges , Maria-Gabriela Boza-Moran , Jacqueline Gide , Georges Arielle Pêche , Benjamin Forêt , et al.
Scientific Reports, 2019, 9 (1), pp.14568. ⟨10.1038/s41598-019-49870-y⟩
Article dans une revue hal-03828599v1

Interaction of Theiler’s Virus with Intermediate Filaments of Infected Cells

 Patrick Nédellec , Patrick Vicart , Christine Laurent-Winter , Cécile Martinat , Marie-Christine Prévost , et al.
Journal of Virology, 1998, 72 (12), pp.9553-9560. ⟨10.1128/JVI.72.12.9553-9560.1998⟩
Article dans une revue hal-03029550v1

Glial cell dysfunction in myotonic dystrophy brain disease

 Dm Dinca , So Braz , Louison Lallemant , A Gonzalez-Barriga , B Potier , et al.
12th Japanese-French Workshop: New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology, Sep 2022, Giverny, France
Communication dans un congrès hal-04004421v1

Toxic CUG RNA repeats disrupt developmentally-regulated splicing in oligodendrocytes causing transient hypomyelination in a mouse model of myotonic dystrophy.

 Louison Lallemant , Sandra Braz , Anchel González-Barriga , Paul Magneron , Aurélien Cordier , et al.
The European Meeting on Glial Cells in Health and Disease, Jul 2023, Berlin, France
Poster de conférence hal-04005524v1
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Des embryons chimères et des pseudo-embryons comme alternatives pour la recherche sur l’embryon humain

 Pierre Savatier , Laurent David , John de Vos , Frank Yates , Shahragim Tajbakhsh , et al.
Médecine/Sciences, 2021, 37 (8-9), pp.799-801. ⟨10.1051/medsci/2021124⟩
Article dans une revue hal-03337388v1
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CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis

 Antoine Mérien , Julie Tahraoui-Bories , Michel Cailleret , Jean-Baptiste Dupont , Céline Leteur , et al.
Human Molecular Genetics, 2022, 31 (1), pp.41-56. ⟨10.1093/hmg/ddab218⟩
Article dans une revue hal-03830948v1

MBNL-dependent impaired development connectivity within neuromuscular circuits in myotonic dystrophy type 1

 Julie Tahraoui-Bories , Antoine Mérien , Florine Roussange , Anchel González-Barriga , Jeanne Lainé , et al.
International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan
Poster de conférence hal-04006954v1
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