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Les agrégats de PABPN1 dans la dystrophie musculaire oculopharyngée

Fanny Roth
Biologie moléculaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS342⟩
Theses tel-03162426v1
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Immortalized Canine Dystrophic Myoblast Cell Lines for Development of Peptide-Conjugated Splice-Switching Oligonucleotides

Yuichiro Tone , Kamel Mamchaoui , Maria K Tsoumpra , Yasumasa Hashimoto , Reiko Terada , et al.
Nucleic Acid Therapeutics, 2021, 31 (2), pp.172 - 181. ⟨10.1089/nat.2020.0907⟩
Journal articles hal-03276095v1
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Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy

Caroline C. Le Guiner , Laurent Servais , Marie Montus , Thibaut Thibaut , Bodvael Fraysse , et al.
Nature Communications, 2017, 8 (1), pp.16105. ⟨10.1038/ncomms16105⟩
Journal articles hal-02179396v1
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Influence of BMP signaling on neural crest cells during heart outflow tract septation

Jean-François Darrigrand
Development Biology. Sorbonne Université, 2019. English. ⟨NNT : 2019SORUS085⟩
Theses tel-03141362v1
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The authors reply: Comment on: “Aldehyde dehydrogenases contribute to skeletal muscle homeostasis in healthy, aging, and Duchenne muscular dystrophy patients” by Etienne et al.

Jessy Etienne , Pierre Joanne , Cyril Catelain , Stéphanie Riveron , Alexandra Bayer Wildberger , et al.
Journal of Cachexia, Sarcopenia and Muscle, 2020, ⟨10.1002/jcsm.12629⟩
Journal articles hal-03038617v1
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Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies

Xavier Suárez‐calvet , Esther Fernández‐simón , Patricia Piñol‐jurado , Jorge Alonso‐pérez , Ana Carrasco‐rozas , et al.
FASEB Journal, 2021, 35 (9), ⟨10.1096/fj.202100588r⟩
Journal articles hal-03350045v1
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New role of P2X7 receptor in an Alzheimer's disease mouse model

Élodie Martin , Majid Amar , Carine Dalle , Ihsen Youssef , Céline Boucher , et al.
Molecular Psychiatry, In press, ⟨10.1038/s41380-018-0108-3⟩
Journal articles hal-01900819v1
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Reversal of RNA toxicity in myotonic dystrophy via a decoy RNA-binding protein with high affinity for expanded CUG repeats

Ludovic Arandel , Magdalena Matloka , Arnaud F Klein , Frédérique Rau , Alain Sureau , et al.
Nature Biomedical Engineering, 2022, 6 (2), pp.207-220. ⟨10.1038/s41551-021-00838-2⟩
Journal articles hal-03830811v1
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Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Menelaos Pipis , Andrea Cortese , James M Polke , Roy Poh , Jana Vandrovcova , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal articles hal-03353031v1
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Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies

Nickie Seto , Jose Jiram Torres-Ruiz , Carmelo Carmona-Rivera , Iago Pinal-Fernandez , Katherine Pak , et al.
JCI Insight, 2020, 5 (3), pp.e134189. ⟨10.1172/jci.insight.134189⟩
Journal articles hal-03831101v1
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Guidelines on clinical presentation and management of nondystrophic myotonias

Bas C Stunnenberg , Samantha Lorusso , W. David David Arnold , Richard J Barohn , Stephen C Cannon , et al.
Muscle & nerve. Supplement., 2020, 62 (4), pp.430 - 444. ⟨10.1002/mus.26887⟩
Journal articles hal-03461673v1
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NK Cell Patterns in Idiopathic Inflammatory Myopathies with Pulmonary Affection

Marc Pawlitzki , Christopher Nelke , Leoni Rolfes , Rebecca Hasseli , Stylianos Tomaras , et al.
Cells, 2021, 10 (10), pp.2551. ⟨10.3390/cells10102551⟩
Journal articles hal-03369634v1
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Systematic retrospective study of 64 patients with anti-Mi2 dermatomyositis: A classic skin rash with a necrotizing myositis and high risk of malignancy

Grégoire Monseau , Stéphane Barete , Agathe Masseau , Alain Meyer , Benjamin Terrier , et al.
Journal of The American Academy of Dermatology, 2020, 83 (6), pp.1759-1763. ⟨10.1016/j.jaad.2020.03.058⟩
Journal articles hal-03523438v1
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Reply: Janus kinase 1/2 inhibition with baricitinib in the treatment of juvenile dermatomyositis

Yves Allenbach , Lois Bolko , Olivier Benveniste , Ségolène Toquet , Océane Landon-Cardinal
Brain - A Journal of Neurology , 2019, 142 (3), pp.e9-e9. ⟨10.1093/brain/awz006⟩
Journal articles hal-03523485v1
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Inclusion body myositis: accumulation of evidence for its autoimmune origin

El Oussini , Olivier Benveniste , Yves Allenbach
Brain - A Journal of Neurology , 2019, 142 (9), pp.2549-2551. ⟨10.1093/brain/awz229⟩
Journal articles hal-03523492v1
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Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Mitja Mitrovič , Nikolaos A Patsopoulos , Ashley H Beecham , Theresa Dankowski , An Goris , et al.
Cell, 2018, 175 (6), pp.1679 - 1687.e7. ⟨10.1016/j.cell.2018.09.049⟩
Journal articles hal-03464593v1
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The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre

Cécile Delorme , Marion Houot , Charlotte Rosso , Stéphanie Carvalho , Thomas Nedelec , et al.
Brain Communications, 2021, 3 (3), ⟨10.1093/braincomms/fcab135⟩
Journal articles hal-03464402v1
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Mécanismes moléculaires impliqués dans l’efficacité de transduction des vecteurs AAV dans le muscle dystrophique

Julie Chassagne
Biologie moléculaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS514⟩
Theses tel-03375648v1
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Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1

Laure de Pontual , Geneviève Gourdon , Stéphanie Tomé
Médecine/Sciences, 2021, 37, pp.6 - 10. ⟨10.1051/medsci/2021182⟩
Journal articles hal-03753522v1
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Differentiation-dependent susceptibility of human muscle cells to Zika virus infection

Vincent Legros , Patricia Jeannin , Julien Burlaud-Gaillard , Thibault Chaze , Quentin Giai Gianetto , et al.
PLoS Neglected Tropical Diseases, 2020, 14 (8), pp.e0008282. ⟨10.1371/journal.pntd.0008282⟩
Journal articles hal-03184236v1
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Modelling human myoblasts survival upon xenotransplantation into immunodeficient mouse muscle.

Christophe Praud , Karine Vauchez , Pascal Zongo , Jean-Thomas Vilquin
Experimental Cell Research, 2018, 364 (2), pp.217-223. ⟨10.1016/j.yexcr.2018.02.011⟩
Journal articles hal-02364943v1
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Anti-mitochondrial antibodies are not a hallmark of severity in idiopathic inflammatory myopathies

Wladimir Mauhin , Kuberaka Mariampillai , Yves Allenbach , Jean-Luc Charuel , Lucile Musset , et al.
Joint Bone Spine, 2017, ⟨10.1016/j.jbspin.2017.04.004⟩
Journal articles hal-01518320v1
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Adeno-Associated Viral Vectors at the Frontier between Tolerance and Immunity

Federico Mingozzi , Hildegard Büning
Frontiers in Immunology, 2015, 6, pp.120. ⟨10.3389/fimmu.2015.00120⟩
Journal articles hal-01216420v1
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miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies

Débora Portilho , Marcelo Ribeiro Alves , Gueorgui Kratassiouk , Stéphane Roche , Frédérique Magdinier , et al.
PLoS ONE, 2015, 10 (2), pp.e0116853. ⟨10.1371/journal.pone.0116853⟩
Journal articles hal-01219803v1
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Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques

Gilles Moulay , Jeanne Lainé , Mégane Lemaître , Masayuki Nakamori , Ichizo Nishino , et al.
Journal of Cell Biology, 2020, 219 (9), ⟨10.1083/jcb.201912061⟩
Journal articles hal-03005118v1
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Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy

Abdallah Fayssoil , Lee S Nguyen , Tanya Stojkovic , Helene Prigent , Robert Carlier , et al.
Muscle & nerve. Supplement., 2022, 65 (1), pp.89-95. ⟨10.1002/mus.27432⟩
Journal articles hal-03521139v1
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Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome

John Rendu , Rodrick Montjean , Charles Coutton , Mohnish Suri , Gaetan Chicanne , et al.
Human Mutation, 2017, 38 (2), pp.152-159. ⟨10.1002/humu.23139⟩
Journal articles hal-03828357v1
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Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription

Amédée Mollard , Cécile Peccate , Anne Forand , Julie Chassagne , Laura Julien , et al.
Scientific Reports, 2022, 12 (1), pp.9674. ⟨10.1038/s41598-022-13405-9⟩
Journal articles hal-03828271v1
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Les exosomes, des messagers intercellulaires naturels aux mécanismes polyvalents pour le traitement des myopathies?

Alexandra Bayer Wildberger , Judith Lorant , Jean-Thomas Vilquin
Les Cahiers de Myologie, A paraître, 37 (1), pp.44-45
Journal articles hal-03440216v1
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CD38‐NADase is a new major contributor to Duchenne muscular dystrophic phenotype

Antoine de Zélicourt , Abdallah Fayssoil , Mbarka Dakouane‐giudicelli , Isley de Jesus , Ahmed Karoui , et al.
EMBO Molecular Medicine, 2022, 14 (5), pp.e12860. ⟨10.15252/emmm.202012860⟩
Journal articles hal-03619994v1