
Gisèle BONNE
- Centre de recherche en Myologie – U974 SU-INSERM
Présentation
My research interest focuses on the analysis of skeletal and cardiac striated muscles in normal and pathologic conditions. After a PhD thesis (1990-1994) on the human cytochrome C oxidase complex during development and in mitochondrial myopathies, I had post-doctoral training in genetics where I identified the first mutation in the MYBPC3 gene responsible to familial hypertrophic cardiomyopathy (1995). Since 1996, date at which I got a permanent position at Inserm as senior researcher, I conducted my research program of the genetics and pathophysiology of Emery-Dreifuss muscular dystrophy (EDMD) and identified the first mutation of LMNA gene encoding Lamins A/C (1999). Mutations of this gene have been since linked to wide spectrum of disorders, the Laminopathies. My research program has evolved with time towards genetics and pathophysiology of Laminopathies and their related disorders and to reach now the genetics, the pathophysiology and the test of therapeutic approaches of several neuromuscular disorders, as I’m now leading a team of 15 persons at the Center of Research in Myology (Paris, France). The field of laminopathies has grown over the years, and is now a quite competitive and simulating research area. My team created 2 knock-in mouse models reproducing LMNA mutations identified in patients, models that mimics quite well some of the human disease features and thus represent unique tools to test therapeutic strategies. I have been the Chair of the French Society of Myology (SFM, 2015-2018) and I'm the treasure of the World Muscle Society (WMS) since 2017.
Compétences
Publications
Publications
The H222P-Lamin mutation induces heart failure via impaired mitochondrial calcium uptake in human cardiac laminopathyESC Congress 2024, Aug 2024, London, United Kingdom. ⟨10.1093/eurheartj/ehae666.3680⟩
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TREATABOLOME, A RARE DISEASES’ TREATMENT AWARENESS PROJECT9ème Journée nationale BRAIN -TEAM, Filière nationale de Santé Maladies rares du système nerveux central, Mar 2024, Paris, France
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ERDERA and opportunities for French genetics teams3rd Thursday of Clinical Genetics - “2025 France Genomic Medicine Initiative” (PFMG 2025) and the International Context, Feb 2024, Paris, France
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hal-04460541
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P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S141, ⟨10.1016/j.nmd.2023.07.298⟩
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hal-04280249
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VP429 Impaired skeletal muscle strength in adult patients with laminopathies28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S159-S160, ⟨10.1016/j.nmd.2023.07.370⟩
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Solve-NMD in Paris: Project resultsSolve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
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hal-04086236
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2002 - 2023 : l’Odyssée de… la Myologie20èmes Journées de la Société Française de Myologie, Societe Française de Myologie, Nov 2023, La Baule (France), France
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Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variantWebinaire de la Filière en Santé Filnemus, May 2023, Paris, France
Communication dans un congrès
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The Treatabolome flags treatable genes and variants: an emerging conceptNC-IUPHAR Symposium April 2023, Servier, Apr 2023, Paris, France
Communication dans un congrès
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Quantification of skeletal muscle strength in laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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hal-04189561
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Challenges in gene therapy for striated muscle laminopathy4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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Concept de gènes actionnables et application dans le domaine neuromusculaire.25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France
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P431 Steroid treatment may change natural history in congenital laminopathies28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S160, ⟨10.1016/j.nmd.2023.07.372⟩
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DNA damage repair in LMNA-related congenital muscular dystrophy4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S139, ⟨10.1016/j.nmd.2023.07.290⟩
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Steroid treatment may change natural history in congenital laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Communication dans un congrès
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Linking actionable genes to the treatabolome in myopathiesNC-IUPHAR Symposium April 2023, Apr 2023, Paris, France
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Identification of potential genetic modifi ers underlying phenotypic variability in a French family with striated muscle laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Communication dans un congrès
hal-04189567
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Treatabolome DB: linking gene and variants with treatments for rare diseasesSolve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
Communication dans un congrès
hal-04086225
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A robust and practical myogenic system to explore cellular and genomic features of muscle differentiation28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S158, ⟨10.1016/j.nmd.2023.07.363⟩
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Gene therapy for striated muscle laminopathy (in vivo study)4th International Meeting on Laminopathies, May 2023, Madrid, Spain
Communication dans un congrès
hal-04189734
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How to solve rare diseases: systematic pan-European data sharing and collaborative analysis: the Solve-RD project15th Congress of the European Paedriatric Neurology Society, European Paedriatric Neurology Society, Jun 2023, Prague, Czech Republic
Communication dans un congrès
hal-04189585
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P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S142, ⟨10.1016/j.nmd.2023.07.301⟩
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Investigating lineage-specifi c phenotypes of laminopathies using induced pluripotent stem cells4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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Comment résoudre les impasses diagnostiques des maladies rares : partage systématique des données paneuropéennes et analyse collaborative : le projet Solve-RDJournée thématique sur l'errance et l'impasse diagnostiques - Filière Filnemus, Filnemus, Dec 2023, Paris, France
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Recent insights in the pathophysiological mechanisms of striated muscle laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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hal-04189728
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P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S99, ⟨10.1016/j.nmd.2023.07.136⟩
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O03 In vivo gene therapy for striated muscle laminopathy28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S67, ⟨10.1016/j.nmd.2023.07.018⟩
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Insights in the pathophysiological mechanisms of striated muscle LaminopathiesOttawa NMD 2023 Conference, Sep 2023, Ottawa, Canada
Communication dans un congrès
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Validation of Myo-converted fi broblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
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Insights in the pathophysiological mechanisms of striated muscle LaminopathiesEuropean Meeting on Intermediate Filaments, Elly Hol, Jun 2023, Noorwijkerhout, Netherlands
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Development of gene therapy for striated muscle laminopathyCure CMD scientific and family conference, Jun 2022, Nashville, United States
Communication dans un congrès
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Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy
Communication dans un congrès
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Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)MDUK Muscles Matter online seminar series Congenital muscular dystrophy (CMD), Mar 2022, Virtual conference, United Kingdom
Communication dans un congrès
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Gene therapy for striated muscle laminopathy12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France
Communication dans un congrès
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Etude des dommages de l'ADN dans la dystrophie musculaire congénitale liée à LMNA19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
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AAV-driven human BAG3 overexpression unexpectedly exacerbate heart failure in a LMNAH222P DCM mice modelPrintemps de la Cardiologie 2022, Jun 2022, Tours, France. pp.192, ⟨10.1016/j.acvdsp.2022.04.082⟩
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Striated muscle laminopathies: Modifier variants253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
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Striated muscle laminopathies, from gene defects to pathomechanisms and therapeutic approaches: what are we missing?Discovering a cure for LMNA: Current strategies, crazy ideas and future collaborations, Apr 2022, Virtual conference, Netherlands
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Patients’ registries: present and future253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
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Cold Case (Season II): TTN deletion described after CNV analysesSolve-RD Annual Meeting 2022, Apr 2022, Virtual conference, Germany
Communication dans un congrès
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Origin of the increased severity of LMNA-related muscular dystrophy compared with Emery-Dreyfuss muscular dystrophyA hybrid workshop on the nuclear envelope, mechanobiology and rare diseases, Oct 2022, Singapore, Singapore
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Discussion needed on how to define and select non-clinical biomarkers253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
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The clinico-genetic spectrum of Lamin A/C gene (LMNA) mutationsA hybrid workshop on the nuclear envelope, mechanobiology and rare disease, Oct 2022, Hybrid conference, Singapore
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Table Ronde: Quel avenir pour la recherche sur les maladies rares ?Dix ans de contribution de l’ANR au domaine des maladies rares, Nov 2022, Paris, France
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Gene therapy for striated muscle laminopathiesEuropean Network for Laminopathies Meeting, Sep 2022, Bologna, Italy
Communication dans un congrès
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The Treatabolome flags treatable genes and variants: an emerging conceptERN-Euro-NMD-Eurordis CETF symposium, Nov 2021, Virtual conference, France
Communication dans un congrès
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Molecular pathophysiological mechanisms of Cardiac LaminopathiesBritish Heart Fondation Centre virtual 2021 Symposium, Nov 2021, Virtual conference, United Kingdom
Communication dans un congrès
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Treatabolome database: towards enhancing Rare Diseases’ treatment visibilitySolve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Communication dans un congrès
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Striated muscle of Laminopathies, Scientific advances for the development of treatmentsLMNACardio Foundation meeting, Oct 2021, Virtual conference, Netherlands
Communication dans un congrès
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LMNA (Laminopathy) ResearchCure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States
Communication dans un congrès
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Solve-RD: Un projet Européen visant à réduire l’errance diagnostiqueEunjeux et Défis de la Recherche dans les Maladies Rares - Fondation Malaides Rares, May 2021, Conference - Online., France
Communication dans un congrès
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The Treatabolome flags treatable genes and variants: an emerging conceptERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany
Communication dans un congrès
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History and discovery of Laminopathy , Scientific advances for the development of treatmentsSymposium on Rare Diseases in Puerto Rico from the Capitol, Jul 2021, Virtual conference, Puerto Rico
Communication dans un congrès
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Cold Case: Patient with only one CAPN3 variantSolve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
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WP3 Task 3. TreatabolomeSolve-RD Annual Meeting, Mar 2020, Barcelona, Spain
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Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathyASSISES DE GÉNÉTIQUE HUMAINE ET MÉDICALE, Jan 2020, Tours, France
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Gene therapy for LMNA-related congenital muscular dystrophyCure CMD scientific and family conference, Nov 2020, Virtual conference, United States
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Laminopathy of the striated muscle: from the gene defects to therapeutic approachesInvited Seminar by Prof I Perez at Unidad de Terapia Génica, Instituto de Investigación de Enfermedades Raras, Feb 2020, Madrid, Spain
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Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathyNew Directions in Skeletal Muscle Biology, Jun 2020, Virtual conference (Covid), United States
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Solved-RD WP3 progress updateSolve-RD Annual Steering Committee Meeting, Sep 2020, Virtual Conference, Germany
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The Concept of TreatabolomeESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom
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Actions RechercheJournée de la Filière en Santé Maladies Neuromusculaire Rares, Filnemus, Oct 2020, Conference - Online., France
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Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy25th International Congress of the World-Muscle-Society (WMS), Sep 2020, ELECTR NETWORK, France. pp.S47, ⟨10.1016/j.nmd.2020.08.007⟩
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Modelling skeletal muscle laminopathies with human iPS cells and bio-engineered skeletal muscles: Prospects for genetic therapiesESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. pp.OR11
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Laminopathy of the striated muscle: from the gene defects to therapeutic approaches11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING 2019, Jun 2019, Turku, Finland
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Laminopathy of the striated muscle: from the gene defects to therapeutic approaches26th Wilhelm Bernhard Workshop on the Cell Nucleus, May 2019, Dijon, France
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Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMD.11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland
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New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathiesCongress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, Aug 2019, Paris, France. pp.5164
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Risk stratification for sudden death in laminopathies9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
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miRNA-processing pathway is impaired in skeletal muscle laminopathies11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland
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TOWARDS THERAPY: REGISTRIES, BIOBANKS, TREATABLE VARIANTSSolve-RD Annual Meeting, Feb 2019, Radboud University Medical Center (UMC), Nijmegen,, Netherlands
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Laminopathy of the striated muscle: from the gene defects to therapeutic approachesSéminaire UMR Inserm 1011 – Université Lille, Apr 2019, Lilles, France
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Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. pp.S141, ⟨10.1016/j.nmd.2019.06.370⟩
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LMNA-linked lipodystrophy : new insight on cardiovascular phenotypes9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
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European Network for Laminopathies management: Network ActivitiesSatellite Meeting European Network for Laminopathies Meeting, Sep 2019, Kings College, London, United Kingdom
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Keynote Lecture : Laminopathies from the first mutation to therapeutic avenuesRare Diseases Summer School - Rare Disease Initiative Zürich, Jul 2018, Kartause Ittingen, Warth, Switzerland
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Insights in the pathophysiology of LMNA-related congenital muscular dystrophy4th Joint Meeting Belgian-Dutch Neuromuscular Study Group & German Reference Center for Neuromuscular Diseases, May 2018, Valls, Netherlands
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Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies9èmes Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France
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KLF10 regulates skeletal muscle metabolism in miceAmerican Society for Bone and Mineral Research Annual Meeting, American Society for Bone and Mineral Research, Sep 2018, Montréal, Canada
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Striated muscle Laminopathies from gene defects to pathophysiology mechanisms13th Meeting of the Mediterranean Society of Myology in connection with the 2nd Congress of the Turkish Neuromuscular Society, Jun 2018, Avanos, Cappadocia, Turkey
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Laminopathies: unveiling the pathophysiologyGordon Research Conference on Intermediate filaments, Jun 2018, Rennaissance Tuscany Il Ciocco, Italy
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The LaminopathiesInvited Seminar by Porf Alessandra Ferlini, May 2018, Ferrara, Italy
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Insights in the pathophysiology of LMNA-related congenital muscular dystrophyThe Nuclear Lamina and nuclear organization. Cost School & The Batsheva de Rothschild Seminar., Jun 2017, Yearim, Israel
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A new gene for myopathies with prominent contractures?Journée Filnemus 2017, Nov 2017, Paris, France
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Insights in the pathophysiology of striated muscle Laminopathies2nd International Meeting on Laminopathies, Giovanna Lattanzi, Apr 2017, Bologna, Italy
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Integrated analysis of the large-scale sequencing project ``Myocapture'' to identify novel genes for myopathies22nd International Congress of the World Muscle Society, Oct 2017, Saint Malo, France. pp.S195, ⟨10.1016/j.nmd.2017.06.367⟩
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Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy.The Pleiotropic Nuclear Envelope, John McIntyre Conference Centre, University of Edinburgh, Aug 2017, Edinburgh (Ecosse), United Kingdom
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Insights in the pathophysiology of striated muscle LaminopathiesWorkshop of COST Action CA15214 An Integrative Action for Multidisciplinary Studies on Cellular Structural Networks, Pavel Hodzak, Mar 2017, Prague, Czech Republic
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Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy17th International Congress of the World-Muscle-Society (WMS), Oct 2012, Perth, Australia. pp.827-828, ⟨10.1016/j.nmd.2012.06.088⟩
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Epidémiologie descriptive des troubles de santé après mise en place chez les jeunes bovins allotésJournées Nationales des Groupements Techniques Vétérinaires (GTV), May 2007, Nantes, France
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Titin copy number variations associated with dominant inherited phenotypesSolve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Poster de conférence
hal-04086226
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Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic featuresSolve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Poster de conférence
hal-04086227
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Elucidating the molecular biology of Inclusion body Myositis through multi-omics analysisSolve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
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hal-04086230
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Expérience de l’utilisation des corticoïdes dans les laminopathies de l’enfant32 ème congrès de la Société Française de Neurologie Pédiatrique, Marseille, Jan 2023, Marseille (FRANCE), France
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hal-04015316
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Gene therapy for striated muscle laminopathy7th international congress of myology - Myology2022, Sep 2022, Nice, France
Poster de conférence
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Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies27th International Hybrid Annual Congress of the World-Muscle-Society (WMS), Oct 2022, Halifax, Canada. Neuromuscular Disorders, 32, pp.S108, 2022, ⟨10.1016/j.nmd.2022.07.273⟩
Poster de conférence
hal-03983832
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LOXL4 loss-of-function: a novel cause of matrisome-related disease7th international congress of myology - Myology2022, Sep 2022, Nice, France
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hal-04003081
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Editing the Nuclear Envelope: Using Human iPS Cells and CRISPR-Cas Technology to Develop Novel Therapies for Skeletal Muscle Laminopathies29th Annual Congress of the European-Society-of-Gene-and-Cell-Therapy (ESCGT), Oct 2022, Edinburgh, Ecosse, United Kingdom. Hum. Gene Ther., 33 (23-24), pp.A208, 2022
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hal-03983868
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miRNA-processing pathway is impaired in striated muscle laminopathies7th international congress of myology: Myology2022, Sep 2022, Nice Acropolis, France
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OPALE: a patient registry for laminopathies and emerinopathies in France27th International Hybrid Annual Congress of the World-Muscle-Society (WMS), Oct 2022, Halifax, Canada. Neuromuscular Disorders, 32, pp.S112, 2022, ⟨10.1016/j.nmd.2022.07.292⟩
Poster de conférence
hal-03983839
v1
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Solve-RD, solving unsolved cold cases: TTN deletion described thanks to a systematic Copy Number Variant/Structural Variant (CNV/SV) reanalysis7th international congress of myology - Myology2022, Sep 2022, Nice, France
Poster de conférence
hal-04004807
v1
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OPALE: A patient registry for Laminopathies and Emerinopathies in France.19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Poster de conférence
hal-04003074
v1
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Treatabolome database: current state and new developments towards enhancing rare disease treatment visibilitySolve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany
Poster de conférence
hal-03989222
v1
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Analyses fonctionnelles et études de corrélation phénotype-génotype chez des patients suspects de titinopathie19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Poster de conférence
hal-04004837
v1
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OPALE: A patient registry for Laminopathies and Emerinopathies in France.7th international congress of Myology - Myology2022, Sep 2022, Nice, France
Poster de conférence
hal-04003067
v1
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Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies7th international congress of myology - Myology2022, Sep 2022, Nice, France
Poster de conférence
hal-04004811
v1
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The α2-subunit of the AP2 clathrin adaptor as a new causal gene in an atypical myopathy with granulofilamentous inclusionsCongress of the World Muscle Society, Sep 2021, Virtual, France. 2021
Poster de conférence
hal-03967904
v1
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The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S141-S142, 2021, ⟨10.1016/j.nmd.2021.07.326⟩
Poster de conférence
hal-03983816
v1
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The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom
Poster de conférence
hal-03988844
v1
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Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S72, 2021, ⟨10.1016/j.nmd.2021.07.100⟩
Poster de conférence
hal-03983822
v1
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Treatabolome database: towards enhancing Rare Diseases' treatment visibility54th European Society of Human Genetics (ESHG) Conference, Aug 2021, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 30 (Suppl 1), pp.P17.076.C, 2022
Poster de conférence
hal-03983893
v1
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Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMDCure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States
Poster de conférence
hal-03988774
v1
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The Treatabolome flags treatable genes and variants: an emerging concept26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S146-S147, 2021, ⟨10.1016/j.nmd.2021.07.344⟩
Poster de conférence
hal-03983828
v1
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Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy18èmes Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France
Poster de conférence
hal-03989163
v1
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Objective evaluation of clinical actionability for genes involved in myopathies: 34 promising genes26th International Congress of the World-Muscle-Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31 (Suppl 1), pp.LBP.14, 2021
Poster de conférence
hal-03983901
v1
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Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathySolve-RD Annual Meeting, Mar 2020, Barcelona, Spain
Poster de conférence
hal-03986992
v1
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Treatabolome: a rare diseases treatment awareness projectESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 28 (Suppl 1), pp.P18.57.A, 2020
Poster de conférence
hal-03983888
v1
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Treatabolome: a rare diseases treatment awareness project10th European Conference on Rare Diseases & Orphan Products 2020., May 2020, Virtual conference, Belgium
Poster de conférence
hal-03986996
v1
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Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S90, 2019, ⟨10.1016/j.nmd.2019.06.199⟩
Poster de conférence
hal-03973454
v1
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Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophyESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. Hum. Gene Ther., 30 (11), pp.P484, 2019
Poster de conférence
hal-03983916
v1
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The SOLVE-RD project: sharing patients’ data to diagnose rare diseases6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France
Poster de conférence
hal-03986811
v1
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Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France
Poster de conférence
hal-03986752
v1
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Mechanically-induced nuclear damage and increased p53 signaling lead to myofiber dysfunction in skeletal muscle laminopathies9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
Poster de conférence
hal-03986939
v1
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LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩
Poster de conférence
hal-03973478
v1
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Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathy17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Poster de conférence
hal-03986965
v1
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miRNA-processing pathway is impaired in skeletal muscle laminopathies17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Poster de conférence
hal-03986975
v1
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Nuclear export of YAP requires functional LINC complexes in skeletal muscleSatellite Meeting European Network for Laminopathies Meeting, Sep 2019, London, United Kingdom
Poster de conférence
hal-03986932
v1
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Gene therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD)6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France
Poster de conférence
hal-03986729
v1
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Myocapture: a large-scale sequencing project to identify novel genes for myopathiesMyologie 2019, Mar 2019, Bordeaux, France
Poster de conférence
hal-04029248
v1
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LES CORTICOIDES ORAUX, UNE OPTION THERAPEUTIQUE DANS LES LAMINOPATHIES CONGENITALES ?17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Poster de conférence
hal-03986950
v1
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Haploinsufficiency and dominant negative effects of mutant lamin A/C both contribute to the increased severity of L-CMD compared with EDMD.17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseiile, France
Poster de conférence
hal-03986960
v1
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Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France
Poster de conférence
hal-03986971
v1
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MODELLING SKELETAL MUSCLE LAMINOPATHIES USING HUMAN iPS CELLS AND BIO-ENGINEERED SKELETAL MUSCLES9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
Poster de conférence
hal-03986927
v1
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Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S138, 2019, ⟨10.1016/j.nmd.2019.06.359⟩
Poster de conférence
hal-03973473
v1
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Nouvelle mutation d’épissage du gène POPDC1 (BVES) associée à des blocs de conduction cardiaque du 1er degré et une dystrophie musculaire9èmes Assises de génétique humaine et médicale, Jan 2018, Nantes, France.
Poster de conférence
hal-03986833
v1
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Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophyConference on Changing the Face of Modern Medicine - Stem Cell and Gene Therapy, Oct 2018, Lausanne, Switzerland. Hum. Gene Ther., 29 (12), pp.A138. P379, 2018
Poster de conférence
hal-03983935
v1
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Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype11th UK Neuromuscular Translational Research Conference, Apr 2018, Cambridge, United Kingdom. Neuromuscular Disorders, 28, pp.S7-S8, 2018, ⟨10.1016/S0960-8966(18)30310-9⟩
Poster de conférence
hal-03973445
v1
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Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S104-S105, 2018, ⟨10.1016/j.nmd.2018.06.289⟩
Poster de conférence
hal-03973451
v1
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BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S59-S60, 2018, ⟨10.1016/j.nmd.2018.06.128⟩
Poster de conférence
hal-03973447
v1
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Collagen VI deficiency: the heart of the matterPrintemps de la Cardiologie, Apr 2017, Nantes, France
Poster de conférence
hal-03996993
v1
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First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S137-S138, 2017, ⟨10.1016/j.nmd.2017.06.165⟩
Poster de conférence
hal-03973439
v1
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POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S140, 2017, ⟨10.1016/j.nmd.2017.06.173⟩
Poster de conférence
hal-03973396
v1
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POPDC1 gene mutations screening in laminopathies: possible role as a modifier50th European-Society-of-Human-Genetics (ESHG) Conference, May 2017, Copenhagen, Denmark. Eur. J. Hum. Genet., 26 (S), pp.445-446. P10.51C, 2018
Poster de conférence
hal-03983938
v1
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Loss of TIEG expression results in defective skeletal muscle structure and function with associated impairment of mitochondrial biogenesis.Annual Meeting of the American-Society-for-Bone-and-Mineral-Research (ASBMR), Sep 2017, Denver (CO), United States. J. Bone Miner. Res., 32 (Suppl 1), pp.S7-S8. 1024, 2017
Poster de conférence
hal-03983941
v1
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Abnormal trafficking of connexin 43: A key element in the development of LMNA cardiomyopathy22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S139, 2017, ⟨10.1016/j.nmd.2017.06.171⟩
Poster de conférence
hal-03973377
v1
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Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S149, 2017, ⟨10.1016/j.nmd.2017.06.205⟩
Poster de conférence
hal-03973434
v1
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A novel INPP5K mutation in a sibship from the Reunion Island22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S110-S111, 2017, ⟨10.1016/j.nmd.2017.06.071⟩
Poster de conférence
hal-03973393
v1
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Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy10th European meeting on Intermediate filaments, Jun 2017, Saint Malo, France
Poster de conférence
hal-03986879
v1
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A muscle hybrid promoter provides specific and effective gene expression after intramuscular and systemic delivery with AAVEuropean-Society-of-Gene-and-Cell-Therapy (ESCGT) Congress, Oct 2017, Berlin, Germany. Hum. Gene Ther., 28 (12), pp.A44-A45. P096, 2017
Poster de conférence
hal-03983944
v1
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Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S138, 2017, ⟨10.1016/j.nmd.2017.06.167⟩
Poster de conférence
hal-03973411
v1
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Morphological spectrum of RYR1 recessive myopathies: clinical and genetic correlationCongress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017
Poster de conférence
hal-03968355
v1
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TIEG1 is a novel regulator of muscle mitochondrial biogenesis22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S117, 2017, ⟨10.1016/j.nmd.2017.06.093⟩
Poster de conférence
hal-03973380
v1
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Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorder, 27, pp.S239, 2017, ⟨10.1016/j.nmd.2017.06.518⟩
Poster de conférence
hal-03973385
v1
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Collagen VI deficiency: The heart of the matter22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint-Malo, France. Neuromuscular Disorders, 27, pp.S106, 2017, ⟨10.1016/j.nmd.2017.06.057⟩
Poster de conférence
hal-03996987
v1
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Novel recessive splice site mutation in POPDC1 ( BVES ) is associated with first-degree atrioventricular block and muscular dystrophy22nd International Annual Congress of the World Muscle Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S139-S140, 2017, ⟨10.1016/j.nmd.2017.06.172⟩
Poster de conférence
hal-03972940
v1
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Nuclear envelope protein lamin A/C is a crucial mechanosensory component for skeletal muscle plasticityInternational Congress of Neuromuscular Disorders, Sep 2017, Ottawa, Canada. 2017
Poster de conférence
hal-03968419
v1
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The Treatabolome, an emerging conceptJournal of Neuromuscular Diseases, 8 (3), pp.337-339, 2021, ⟨10.3233/JND-219003⟩
N°spécial de revue/special issue
hal-03856200
v1
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A lamin A/C variant causing striated muscle disease provides insights into filament organization2021
Pré-publication, Document de travail
hal-03270949
v1
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