Gisele BONNE

Directrice de Recherche INSERM Responsable d'équipe "Génétique et physiopathologie des maladies neuromusculaires liées à la matrice extracellulaire et du noyau" Centre de Recherche en Myologie -Sorbonne Université - Inserm Institut de Myologie - Paris - France
268
Documents
Affiliation actuelle
  • Centre de recherche en Myologie – U974 SU-INSERM
Contact

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

Human Genetics Rare Neuromuscular Diseases Laminopathies Nuclear Envelope A-type Lamins Striated muscle

Publications

Publications

Laminopathies: natural history and risk prediction of heart failure

Philippe Charron , Julie Proukhnitzky , Rabah Ben Yaou , Pascale Richard , Mohamed Dembélé et al.

European Heart Journal, 2026, pp.ehag104. ⟨10.1093/eurheartj/ehag104⟩

Article dans une revue hal-05541900v1

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

Maria Francesca Di Feo , Ida Paramonov , Leslie Matalonga Borrel , Ana Töpf , Alexander Hoischen et al.

Genetics in Medicine, 2025, pp.101649. ⟨10.1016/j.gim.2025.101649⟩

Article dans une revue hal-05382949v1
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The 2025 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , Francois Rivier , Vincent Procaccio , Dalil Hamroun

Neuromuscular Disorders, 2025, 46, pp.105261. ⟨10.1016/j.nmd.2024.105261⟩

Article dans une revue hal-04926625v1
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253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, The Netherlands

Lorenzo Maggi , Susana Quijano-Roy , Carsten Bönnemann , Gisèle Bonne

Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩

Article dans une revue hal-04086238v1
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The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , Francois Rivier , Dalil Hamroun

Neuromuscular Disorders, 2023, 33 (1), pp.76-117. ⟨10.1016/j.nmd.2022.12.002⟩

Article dans une revue hal-03964998v1
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Titin copy number variations associated with dominant inherited phenotypes

Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov et al.

Journal of Medical Genetics, In press, pp.jmg-2023-109473. ⟨10.1136/jmg-2023-109473⟩

Article dans une revue hal-04274614v1
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TOR1AIP1-Associated Nuclear Envelopathies

Laurane Mackels , Xincheng Liu , Gisèle Bonne , Laurent Servais

International Journal of Molecular Sciences, 2023, 24, ⟨10.3390/ijms24086911⟩

Article dans une revue hal-04066690v1
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti et al.

Genetics in Medicine, 2023, 25 (4), pp.100018. ⟨10.1016/j.gim.2023.100018⟩

Article dans une revue hal-05290572v1
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Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA

Ellen Gregory , Shilpi Kalra , Trisha Brock , Gisèle Bonne , G.W. Gant Luxton et al.

PLoS Genetics, 2023, 19 (8), pp.e1010895. ⟨10.1371/journal.pgen.1010895⟩

Article dans une revue hal-04066711v1

Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts

Louise Benarroch , Julia Madsen-Østerbye , Mohamed Abdelhalim , Kamel Mamchaoui , Jessica Ohana et al.

Cells, 2023, 12 (15), pp.1995. ⟨10.3390/cells12151995⟩

Article dans une revue hal-04187751v1

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD

Tanya Stojkovic , Marion Masingue , Corinne Métay , Norma Romero , Bruno Eymard et al.

Journal of Neuromuscular Diseases, 2022, pp.1-9. ⟨10.3233/JND-221555⟩

Article dans une revue hal-03860537v1

Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes

Maude Vecten , Emmanuelle Pion , Raul Juntas Morales , Damien Sternberg , John Rendu et al.

European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306

Article dans une revue hal-03678838v1
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

Maude Vecten , Emmanuelle Pion , Marc Bartoli , Raul Juntas Morales , Damien Sternberg et al.

International Journal of Molecular Sciences, 2022, 23 (15), pp.8506. ⟨10.3390/ijms23158506⟩

Article dans une revue hal-03751530v1
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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

Antonio Atalaia , Rabah Ben Yaou , Karim Wahbi , Annachiara de Sandre-Giovannoli , Corinne Vigouroux et al.

Journal of Neuromuscular Diseases, 2021, pp.1 - 21. ⟨10.3233/jnd-200596⟩

Article dans une revue hal-03171665v1
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International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

Rabah Ben Yaou , Pomi Yun , Adele D’amico , Muntoni Francesco , Carsten Bönnemann et al.

Brain Communications, 2021, ⟨10.1093/braincomms/fcab075/6220465⟩

Article dans une revue hal-03270153v1
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle , Dagmar Timmann , Corrie Erasmus , Jennifer Reichbauer , Melanie Wayand et al.

European Journal of Human Genetics, 2021, 29 (9), pp.1332-1336. ⟨10.1038/s41431-021-00901-1⟩

Article dans une revue hal-03983726v1
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Preclinical Advances of Therapies for Laminopathies

Louise Benarroch , Enzo Cohen , Antonio Atalaia , Rabah Ben Yaou , Gisèle Bonne et al.

Journal of Clinical Medicine, 2021, 10 (21), pp.4834. ⟨10.3390/jcm10214834⟩

Article dans une revue hal-03430955v1
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Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy

Anne-Claire Guenantin , Imen Jebeniani , Julia Leschik , Erwan Watrin , Gisèle Bonne et al.

Journal of Clinical Investigation, 2021, 131 (1), ⟨10.1172/JCI136488⟩

Article dans une revue hal-03134235v1

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

Denisa Hathazi , Daniel Cox , Adele d'Amico , Giorgio Tasca , Richard Charlton et al.

Brain - A Journal of Neurology , 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩

Article dans une revue hal-03401813v1
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek , Kornelia Ellwanger , Lisenka E L M Vissers , Rebecca Schüle , Matthis Synofzik et al.

European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00859-0⟩

Article dans une revue hal-03270971v1
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The 2022 version of the gene table of neuromuscular disorders (nuclear genome)

Enzo Cohen , Gisèle Bonne , Francois Rivier , Dalil Hamroun

Neuromuscular Disorders, 2021, 31 (12), pp.1313-1357. ⟨10.1016/j.nmd.2021.11.004⟩

Article dans une revue hal-03498774v1
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The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Nicolas Vignier , Maria Chatzifrangkeskou , Luca Pinton , Hugo Wioland , Thibaut Marais et al.

Cell Reports, 2021, 36 (8), pp.109601. ⟨10.1016/j.celrep.2021.109601⟩

Article dans une revue hal-03350074v1
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

Silvia Torelli , Domenic Scaglioni , Valentina Sardone , Matthew J Ellis , Joana Domingos et al.

Journal of Neuropathology and Experimental Neurology, 2021, 80 (10), pp.955 - 965. ⟨10.1093/jnen/nlab088⟩

Article dans une revue hal-03454233v1
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Anna Katharina Sommer , Iris Te Paske , Farid Yavari Dizjikan , Chiara Marini Bettolo , Ivo Glynne Gut et al.

European Journal of Human Genetics, 2021, 29 (9), pp.1337 - 1347. ⟨10.1038/s41431-021-00852-7⟩

Article dans une revue hal-03352530v2

A form of muscular dystrophy associated with pathogenic variants in JAG2

Sandra Coppens , Alison Barnard , Sanna Puusepp , Sander Pajusalu , Katrin Õunap et al.

American Journal of Human Genetics, 2021, 108 (6), pp.1164. ⟨10.1016/j.ajhg.2021.04.018⟩

Article dans une revue hal-03854149v1
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2020, une année entre parenthèses

Emmanuelle Campana-Salort , Gisèle Bonne , Valérie Allamand , J. Andoni Urtizberea

Médecine/Sciences, 2020, 36, pp.5 - 5. ⟨10.1051/medsci/2020268⟩

Article dans une revue hal-03270951v1
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Consequences of Lmna Exon 4 Mutations in Myoblast Function

Déborah Gómez-Domínguez , Carolina Epifano , Fernando De Miguel , Albert García Castaño , Borja Vilaplana-Martí et al.

Cells, 2020, 9 (5), pp.1286. ⟨10.3390/cells9051286⟩

Article dans une revue hal-03153669v1
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The 2021 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , Francois Rivier , Dalil Hamroun

Neuromuscular Disorders, 2020, 30 (12), pp.1008-1048. ⟨10.1016/j.nmd.2020.11.009⟩

Article dans une revue hal-03144209v1
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Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy

Blanca Morales Rodriguez , Alejandro Domínguez-Rodríguez , Jean-Pierre Benitah , Florence Lefebvre , Thibaut Marais et al.

Biochemistry and Biophysics Reports, 2020, 22, pp.100767. ⟨10.1016/j.bbrep.2020.100767⟩

Article dans une revue hal-03269952v1
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Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

Daniel J Owens , Julien Messéant , Sophie Moog , Mark Viggars , Arnaud Ferry et al.

International Journal of Molecular Sciences, 2020, 22 (1), pp.306. ⟨10.3390/ijms22010306⟩

Article dans une revue hal-03146374v1
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FHL1 is a key player of chikungunya virus tropism and pathogenesis

Laurent Meertens , Mohamed Lamine Hafirassou , Thérèse Couderc , Lucie Bonnet-Madin , Vasiliya Kril et al.

Comptes Rendus. Biologies, 2020, 343 (4), pp.79-89. ⟨10.5802/crbiol.40⟩

Article dans une revue pasteur-03246117v1
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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 Dystrophy

Anne T Bertrand , Astrid Brull , Feriel Azibani , Louise Benarroch , Khadija Chikhaoui et al. Article dans une revue hal-02527633v1

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells

Ashley Earle , Tyler Kirby , Gregory Fedorchak , Philipp Isermann , Jineet Patel et al.

Nature Materials, 2020, 19 (4), pp.464-473. ⟨10.1038/s41563-019-0563-5⟩

Article dans une revue hal-03855903v1

Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies

Hannah Nicolas , Anne T Bertrand , Sarah Labib , Musfira Mohamed-Uvaize , Pierrette Bolongo et al.

Cells, 2020, 9 (11), pp.2388. ⟨10.3390/cells9112388⟩

Article dans une revue hal-03169708v1
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Antonio Atalaia , Rachel Thompson , Alberto Corvo , Leigh Carmody , Davide Piscia et al.

Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.206. ⟨10.1186/s13023-020-01493-7⟩

Article dans une revue hal-02935405v1
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Novel Role of Tieg1 in Muscle Metabolism and Mitochondrial Oxidative Capacities

Malek Kammoun , Jérôme Piquereau , Vladimir Veksler , Lydie Nadal-Desbarats , Sandra Même et al.

Acta Physiologica, 2020, 228 (3), pp.e13394. ⟨10.1111/apha.13394⟩

Article dans une revue hal-02304067v2
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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Willem de Ridder , Isabelle Nelson , Bob Asselbergh , Boel de Paepe , Maud Beuvin et al.

Neurology Genetics, 2019, 5 (2), pp.e321. ⟨10.1212/NXG.0000000000000321⟩

Article dans une revue hal-03855787v1

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

Nadine Ame van der Beek , Isabelle Nelson , Roseline Froissart , Thierry Levade , Virginie Garcia et al.

European Journal of Human Genetics, 2019, 27 (3), pp.337-339. ⟨10.1038/s41431-018-0250-z⟩

Article dans une revue hal-03855754v1
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Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy

Nicolas Vignier , Nathalie Mougenot , Gisèle Bonne , Antoine Muchir

Biochemistry and Biophysics Reports, 2019, 19, pp.100664. ⟨10.1016/j.bbrep.2019.100664⟩

Article dans une revue hal-03464625v1
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Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice

Eiji Wada , Megumi Kato , Kaori Yamashita , Hiroko Kokuba , Wen-Chen Liang et al.

PLoS ONE, 2019, 14 (8), pp.e0221512. ⟨10.1371/journal.pone.0221512⟩

Article dans une revue inserm-02271145v1

Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

K. Yauy , David Baux , H. Pegeot , C. van Goethem , C. Mathieu et al.

European Journal of Human Genetics, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩

Article dans une revue hal-02461436v1
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FHL1 is a major host factor for chikungunya virus infection

Laurent Meertens , Mohamed Lamine Hafirassou , Thérèse Couderc , Lucie Bonnet-Madin , Vasiliya Kril et al.

Nature, 2019, 574 (7777), pp.259-263. ⟨10.1038/s41586-019-1578-4⟩

Article dans une revue inserm-02355424v2
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Emery-Dreifuss Muscular Dystrophy

Gisèle Bonne , France Leturcq , Rabah Ben Yaou

Gene Reviews, 2019

Article dans une revue hal-03292021v1
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The mammalian LINC complex component SUN1 regulates muscle regeneration by modulating drosha activity

Tsui Han Loo , Xiaoqian Ye , Ruth Jinfen Chai , Mitsuteru Ito , Gisele Bonne et al.

eLife, 2019, 8, ⟨10.7554/eLife.49485⟩

Article dans une revue hal-02573415v1
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Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy

Nicolas Vignier , Nathalie Mougenot , Gisèle Bonne , Antoine Muchir

Biochemistry and Biophysics Reports, 2019, 19, pp.100664. ⟨10.1016/j.bbrep.2019.100664⟩

Article dans une revue hal-04031062v1
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The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , Francois Rivier , Dalil Hamroun

Neuromuscular Disorders, 2019, 29 (12), pp.980-1018. ⟨10.1016/j.nmd.2019.10.010⟩

Article dans une revue hal-02393145v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios et al.

Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩

Article dans une revue hal-02237297v1
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Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Rachel Thompson , Gisèle Bonne , Paolo Missier , Hanns Lochmuller

Emerging Topics in Life Sciences, 2019, 3 (1), pp.19-37. ⟨10.1042/ETLS20180100⟩

Article dans une revue hal-02413203v1

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

Alan H. Beggs , Gisèle Bonne , Carsten Bönnemann , Sandra Donkervoort , James J. Dowling et al.

Neuromuscular Disorders, 2019, 29 (8), pp.644-650. ⟨10.1016/j.nmd.2019.07.002⟩

Article dans une revue hal-02388590v1
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A muscle hybrid promoter as a novel tool for gene therapy

Katarzyna Piekarowicz , Anne T Bertrand , Feriel Azibani , Maud Beuvin , Laura Julien et al.

Molecular Therapy - Methods and Clinical Development, 2019, 15 (8), pp.157 - 169. ⟨10.1016/j.omtm.2019.09.001⟩

Article dans une revue hal-03269927v1
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Amelioration of desmin network defects by αB-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation

Zoi Galata , Ismini Kloukina , Ioanna Kostavasili , Aimilia Varela , Constantinos H Davos et al.

Journal of Molecular and Cellular Cardiology, 2018, 125, pp.73-86. ⟨10.1016/j.yjmcc.2018.10.017⟩

Article dans une revue hal-02292777v1
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Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation

Nicolas Vignier , Maria Chatzifrangkeskou , Blanca Morales Rodriguez , Mathias Mericskay , Nathalie Mougenot et al.

Human Molecular Genetics, 2018, 27 (22), pp.3870-3880. ⟨10.1093/hmg/ddy278⟩

Article dans une revue hal-01958003v1
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The 13C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time

Eleonora Cavallari , Carla Carrera , Matteo Sorge , Gisèle Bonne , Antoine Muchir et al.

Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-26583-2⟩

Article dans une revue hal-03270932v1
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N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene

Blanca Morales Rodriguez , Lara Khouzami , Valérie Decostre , Shaida Varnous , Vanja Pekovic-Vaughan et al.

Human Molecular Genetics, 2018, 27 (19), pp.3353-3360. ⟨10.1093/hmg/ddy243⟩

Article dans une revue hal-01961216v1

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Rainiero Ávila-Polo , Edoardo Malfatti , Xavière Lornage , Chrystel Cheraud , Isabelle Nelson et al.

Journal of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩

Article dans une revue hal-02332968v1
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

P. H. Jonson , J. Palmio , M. Johari , S. Penttilä , A. Evilä et al.

European Journal of Neurology, 2018, 25 (5), pp.790-794. ⟨10.1111/ene.13598⟩

Article dans une revue hal-02304997v1
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Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

Pia Bernasconi , Nicola Carboni , Giulia Ricci , Gabriele Siciliano , Luisa Politano et al.

Nucleus, 2018, 9 (1), pp.337-349. ⟨10.1080/19491034.2018.1467722⟩

Article dans une revue hal-02297778v1
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Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

David Gómez-Andrés , Jordi Diaz-Manera , Aida Alejaldre , Irene Pulido-Valdeolivas , Laura González-Mera et al.

Muscle & nerve. Supplement., 2018, 58 (6), pp.812-817. ⟨10.1002/mus.26312⟩

Article dans une revue hal-02297512v1
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Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

Aurélien Perrin , Philippe Latour , Vincent Procaccio , Claude Jardel , Mathieu Cerino et al.

Médecine/Sciences, 2018, 34 (Hors-série 2), pp.20-22. ⟨10.1051/medsci/201834s206⟩

Article dans une revue hal-01938567v1
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SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells

Alexandre Janin , Delphine Bauer , Francesca Ratti , Camille Valla , Anne T Bertrand et al.

Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-23918-x⟩

Article dans une revue hal-03270318v1
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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Feriel Azibani , Astrid Brull , Ludovic Arandel , Maud Beuvin , Isabelle Nelson et al.

Molecular Therapy - Nucleic Acids, 2018, 10, pp.376 - 386. ⟨10.1016/j.omtn.2017.12.012⟩

Article dans une revue hal-03269960v1

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Maria Chatzifrangkeskou , David Yadin , Thibaut Marais , Solenne Chardonnet , Mathilde Cohen-Tannoudji et al.

Human Molecular Genetics, 2018, 27 (17), pp.3060-3078. ⟨10.1093/hmg/ddy215⟩

Article dans une revue hal-04031040v1
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Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.

Maxime Kwapich , Dominique Lacroix , Stéphanie Espiard , Sandro Ninni , François Brigadeau et al.

Diabetes & Metabolism, 2018, Diabetes & metabolism, 45, pp.382-389. ⟨10.1016/j.diabet.2018.09.006⟩

Article dans une revue hal-02368608v1

L’errance diagnostique au cœur des préoccupations du 3 e Plan National Maladies Rares

Gisèle Bonne , Jean Pouget

Médecine/Sciences, 2018, 34, pp.5-5. ⟨10.1051/medsci/201834s201⟩

Article dans une revue hal-03855810v1
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The Pathogenesis and Therapies of Striated Muscle Laminopathies

Astrid Brull , Blanca Morales Rodriguez , Gisele Bonne , Antoine Muchir , Anne T Bertrand

Frontiers in Physiology, 2018, 9, pp.1533. ⟨10.3389/fphys.2018.01533⟩

Article dans une revue hal-01919521v1

The 2019 version of the gene table of neuromuscular disorders (nuclear genome)

Gisèle Bonne , Francois Rivier , Dalil Hamroun

Neuromuscular Disorders, 2018, ⟨10.1016/j.nmd.2018.09.006⟩

Article dans une revue hal-01934859v1
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Lamin and the heart

Gabriella Captur , Eloisa Arbustini , Gisèle Bonne , Petros Syrris , Kevin Mills et al.

Heart, 2018, 104 (6), pp.468-479. ⟨10.1136/heartjnl-2017-312338⟩

Article dans une revue hal-03285171v1
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Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene

Coline Macquart , Rene Jüttner , Blanca Morales Rodriguez , Caroline Le Dour , Florence Lefebvre et al.

Human Molecular Genetics, 2018, 28 (24), pp.4043-4052. ⟨10.1093/hmg/ddy227⟩

Article dans une revue hal-02505679v1
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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Maria Chatzifrangkeskou , David Yadin , Thibaut Marais , Solenne Chardonnet , Mathilde Cohen-Tannoudji et al.

Human Molecular Genetics, 2018, 27 (17), pp.3060-3078. ⟨10.1093/hmg/ddy215⟩

Article dans une revue hal-01962065v1
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Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1

Christine Schwartz , Martina Fischer , Kamel Mamchaoui , Anne Bigot , Thevy Lok et al.

Scientific Reports, 2017, 7 (1), pp.1253. ⟨10.1038/s41598-017-01324-z⟩

Article dans une revue hal-01518113v1
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana et al.

Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩

Article dans une revue hal-01741741v1

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care

Felice Heller , Ivana Dabaj , Jean Mah , Jean Bergounioux , Aben Essid et al.

Cardiology in the Young, 2017, 27 (6), pp.1076-1082. ⟨10.1017/S1047951116002079⟩

Article dans une revue istex hal-03860662v1
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Anti-HMGCR antibody–related necrotizing zutoimmune myopathy mimicking muscular dystrophy

Céline Tard , Vincent Tiffreau , Emmanuelle Jaillette , Fabienne Jouen , Isabelle Nelson et al.

Neuropediatrics, 2017, 48 (06), pp.473-476. ⟨10.1055/s-0037-1604402⟩

Article dans une revue hal-03855669v1

Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene

Caroline Le Dour , Coline Macquart , Fusako Sera , Shunichi Homma , Gisèle Bonne et al.

Human Molecular Genetics, 2017, 7 (1), pp.ddw389. ⟨10.1093/hmg/ddw389⟩

Article dans une revue hal-03855712v1
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The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Gisèle Bonne , Francois Rivier , Dalil Hamroun

Neuromuscular Disorders, 2017, 27 (12), pp.1152-1183. ⟨10.1016/j.nmd.2017.10.005⟩

Article dans une revue hal-01668854v1
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Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency

Rabah Ben Yaou , Aurelie Hubert , Isabelle Nelson , Julia R. Dahlqvist , David Gaist et al.

Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩

Article dans une revue hal-04010378v2
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Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse

Marie-Elodie Cattin , Arnaud Ferry , Alban Vignaud , Nathalie Mougenot , Adeline Jacquet et al.

Neuromuscular Disorders, 2016, ⟨10.1016/j.nmd.2016.05.010⟩

Article dans une revue hal-01329664v1
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ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene

Maria Chatzifrangkeskou , Caroline Le Dour , Wei Wu , John Morrow , Leroy Joseph et al.

Human Molecular Genetics, 2016, 25 (11), pp.2220-2233. ⟨10.1093/hmg/ddw090⟩

Article dans une revue hal-03862965v1

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

D. Avila-Smirnow , L. Gueneau , S. Batonnet-Pichon , F. Delort , H.-M. Bécane et al.

Revue Neurologique, 2016, 172 (10), pp.594-606. ⟨10.1016/j.neurol.2016.07.017⟩

Article dans une revue hal-04021574v1

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome

Elena Gargaun , Andreea Mihaela Seferian , Ruxandra Cardas , Anne-Gaelle Le Moing , Catherine Delanoe et al.

Journal of Neurology, 2016, 263 (7), pp.1456-1458. ⟨10.1007/s00415-016-8153-9⟩

Article dans une revue hal-03604457v1

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché , Seana O’regan , Yoshiteru Azuma , Fanny Laffargue , Grace Mcmacken et al.

American Journal of Human Genetics, 2016, 99 (3), pp.753 - 761. ⟨10.1016/j.ajhg.2016.06.033⟩

Article dans une revue hal-01680226v1
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An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Annachiara de Sandre-Giovannoli , Nicolas Lévy , Rabah Ben Yaou , France Leturcq , Giovanna Lattanzi et al.

Orphanet Journal of Rare Diseases, 2015, 10 (Suppl 2), ⟨10.1186/1750-1172-10-S2-I1⟩

Article dans une revue hal-01769449v1

A new titinopathy

Rafael de Cid , Rabah Ben Yaou , Carinne Roudaut , Karine Charton , Sylvain Baulande et al.

Neurology, 2015, 85 (24), pp.2126-2135. ⟨10.1212/WNL.0000000000002200⟩

Article dans une revue hal-02336883v1
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A common French-Italian laminopathy registry – update & future prospects

Gisèle Bonne , Rabah Ben Yaou

Orphanet Journal of Rare Diseases, 2015, 10 (Suppl 2), pp.O31. ⟨10.1186/1750-1172-10-S2-O31⟩

Article dans une revue hal-01227847v1
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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

Isabelle Nelson , Tanya Stojkovic , Valérie Allamand , France Leturcq , Henri-Marc Bécane et al.

Journal of Neuromuscular Diseases, 2015, 2 (3), pp.229 - 240. ⟨10.3233/JND-150093⟩

Article dans une revue hal-01681760v1
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Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Florian Barthelemy , Claire L. Navarro , Racha Fayek , Nathalie da Silva , Patrice Roll et al.

European Journal of Human Genetics, 2015, 23 (8), pp.1051 - 1061. ⟨10.1038/ejhg.2014.239⟩

Article dans une revue hal-01597886v1

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Juliette Nectoux , Rafael de Cid , Sylvain Baulande , France Leturcq , Jon Andoni Urtizberea et al.

European Journal of Human Genetics, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩

Article dans une revue hal-02190709v1
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Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

Anne Bertrand , Simindokht Ziaei , Camille Ehret , Hélène Duchemin , Kamel Mamchaoui et al.

Journal of Cell Science, 2014, 127 (13), pp.2873-2884. ⟨10.1242/jcs.144907⟩

Article dans une revue inserm-02426468v1
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Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon Skipping in Duchenne Patients

Caroline Le Guiner , Marie Montus , Laurent Servais , Yan Cherel , Virginie François et al.

Molecular Therapy, 2014, 22 (11), pp.1923-1935. ⟨10.1038/mt.2014.151⟩

Article dans une revue inserm-02447482v1
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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Imen Dorboz , Marie Coutelier , Anne T. Bertrand , Jean-Hubert Caberg , Monique Elmaleh-Bergès et al.

Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.174. ⟨10.1186/s13023-014-0174-9⟩

Article dans une revue hal-01110718v1
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Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization

Stéphane Vassilopoulos , Christel Gentil , Jeanne Lainé , Pierre-Olivier Buclez , Agathe Franck et al.

Journal of Cell Biology, 2014, 205 (3), pp.377-393. ⟨10.1083/jcb.201309096⟩

Article dans une revue hal-02453865v1
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Role of dynamin 2 in the disassembly of focal adhesions

Laura Briñas , Stéphane Vassilopoulos , Gisele Bonne , Pascale Guicheney , Marc Bitoun

Journal of Molecular Medicine, 2013, 91 (7), pp.803-809. ⟨10.1007/s00109-013-1040-2⟩

Article dans une revue istex hal-02453840v1

Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies

Nicolas Vignier , Fatima Amor , Paul Fogel , Angélique Duvallet , Jérôme Poupiot et al.

PLoS ONE, 2013, 8 (2), pp.e55281. ⟨10.1371/journal.pone.0055281⟩

Article dans une revue hal-02336920v1
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Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.

Gisèle Bonne , Susana Quijano-Roy

Handb Clin Neurol, 2013, 113, pp.1367-76. ⟨10.1016/B978-0-444-59565-2.00007-1⟩

Article dans une revue inserm-00826557v1

A novel genetic variant in the transcription factor Islet‐1 exerts gain of function on myocyte enhancer factor 2C promoter activity

Felix Friedrich , Gilles Dilanian , Patricia Khattar , Denise Juhr , Lucie Gueneau et al.

European Journal of Heart Failure, 2013, 15 (3), pp.267-276. ⟨10.1093/eurjhf/hfs178⟩

Article dans une revue hal-03824016v1

Myoblasts and Embryonic Stem Cells Differentially Engraft in a Mouse Model of Genetic Dilated Cardiomyopathy

Cyril Catelain , Stéphanie Riveron , Aurélie Papadopoulos , Nathalie Mougenot , Adeline Jacquet et al.

Molecular Therapy, 2013, 21 (5), pp.1064-1075. ⟨10.1038/mt.2013.15⟩

Article dans une revue hal-03823994v1
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Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.

Marie-Elodie Cattin , Anne T Bertrand , Saskia Schlossarek , Marie-Catherine Le Bihan , Søren Skov Jensen et al.

Human Molecular Genetics, 2013, 22 (15), pp.3152-64. ⟨10.1093/hmg/ddt172⟩

Article dans une revue inserm-00826642v1
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A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

Anne-Cécile Durieux , Stéphane Vassilopoulos , Jeanne Lainé , Bodvael Fraysse , Laura Briñas et al.

Traffic, 2012, 13 (6), pp.869-879. ⟨10.1111/j.1600-0854.2012.01348.x⟩

Article dans une revue hal-02453822v1

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.

Anne T. Bertrand , Laure Renou , Aurélie Papadopoulos , Maud Beuvin , Emmanuelle Lacène et al.

Human Molecular Genetics, 2012, 21 (5), pp.1037-48. ⟨10.1093/hmg/ddr534⟩

Article dans une revue hal-00672148v1
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Dynamic interplay between human myoblasts and 3D fibrin-based matrix

Stéphane Chiron , Carole Tomczak , Alain Duperray , Jeanne Laine , Gisele Bonne et al.

PLoS ONE, 2012, 7 (4), pp.e36173. ⟨10.1371/journal.pone.0036173⟩

Article dans une revue hal-00694186v1

Distinction Between Two Populations of Islet-1-Positive Cells in Hearts of Different Murine Strains

Patricia Khattar , Felix Friedrich , Gisèle Bonne , Lucie Carrier , Thomas Eschenhagen et al.

Stem Cells and Development, 2011, 20 (6), pp.1043-1052. ⟨10.1089/scd.2010.0374⟩

Article dans une revue hal-03824036v1

Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

B. Granger , L. Gueneau , V. Drouin-Garraud , Vincent Pedergnana , F. Gagnon et al.

Human Genetics, 2011, 129 (2), pp.149-159. ⟨10.1007/s00439-010-0909-1⟩

Article dans une revue istex hal-03691751v1
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ColVI-myopathies: where do we stand, where do we go?

Allamand V , Laura Briñas , Pascale Richard , Tanya Stojkovic , Susana Quijano-Roy et al.

Skeletal Muscle, 2011, 1 (1), pp.30. ⟨10.1186/2044-5040-1-30⟩

Article dans une revue inserm-00630240v1
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Rabah Ben Yaou , Claire L. Navarro , Susana Quijano-Roy , Anne T. Bertrand , Catherine Massart et al.

European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.256⟩

Article dans une revue hal-00611256v1
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Upregulation of PPARβ/δ Is Associated with Structural and Functional Changes in the Type I Diabetes Rat Diaphragm

Nadège Salvi , Aziz Guellich , Pierre Michelet , Alexandre Demoule , Morgan Le Guen et al.

PLoS ONE, 2010, 5 (7), pp.e11494. ⟨10.1371/journal.pone.0011494⟩

Article dans une revue inserm-02426556v1

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.

Takuro Arimura , Anne Helbling-Leclerc , Catherine Massart , Shaida Varnous , Florence Niel et al.

Human Molecular Genetics, 2005, 14 (1), pp.155-69. ⟨10.1093/hmg/ddi017⟩

Article dans une revue hal-00165763v1

The H222P-Lamin mutation induces heart failure via impaired mitochondrial calcium uptake in human cardiac laminopathy

J Hulot , L Deshayes , A Ruiz-Velasco , K Wahbi , A Muchir et al.

ESC Congress 2024, Aug 2024, London, United Kingdom. ⟨10.1093/eurheartj/ehae666.3680⟩

Communication dans un congrès hal-04764816v1

TREATABOLOME, A RARE DISEASES’ TREATMENT AWARENESS PROJECT

Gisèle Bonne

9ème Journée nationale BRAIN -TEAM, Filière nationale de Santé Maladies rares du système nerveux central, Mar 2024, Paris, France

Communication dans un congrès hal-04522201v1

ERDERA and opportunities for French genetics teams

Gisèle Bonne

3rd Thursday of Clinical Genetics - “2025 France Genomic Medicine Initiative” (PFMG 2025) and the International Context, Feb 2024, Paris, France

Communication dans un congrès hal-04460541v1

Challenges in gene therapy for striated muscle laminopathy

Anne T Bertrand , Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04170075v1

P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing

L. Benarroch , I. Nelson , T. Stojkovic , B Mohand Oumoussa , H. Madry et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S141, ⟨10.1016/j.nmd.2023.07.298⟩

Communication dans un congrès hal-04280249v1

Solve-NMD in Paris: Project results

Isabelle Nelson , German Demidov , Enzo Cohen , Aurélien Perrin , Mireille Cossée et al.

Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic

Communication dans un congrès hal-04086236v1

Quantification of skeletal muscle strength in laminopathies

Valérie Decostre , Cathy Chikhaoui , Corinne Vigouroux , Susana Quijano-Roy , Karim Wahbi et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189561v1

The Treatabolome flags treatable genes and variants: an emerging concept

Gisèle Bonne

NC-IUPHAR Symposium April 2023, Servier, Apr 2023, Paris, France

Communication dans un congrès hal-04189545v1

Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variant

Gisèle Bonne

Webinaire de la Filière en Santé Filnemus, May 2023, Paris, France

Communication dans un congrès hal-04189577v1

2002 - 2023 : l’Odyssée de… la Myologie

Gisèle Bonne

20èmes Journées de la Société Française de Myologie, Societe Française de Myologie, Nov 2023, La Baule (France), France

Communication dans un congrès hal-04319081v1

VP429 Impaired skeletal muscle strength in adult patients with laminopathies

V. Decostre , C. Chikhaoui , C. Vigouroux , A. Behin , G. Bassez et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S159-S160, ⟨10.1016/j.nmd.2023.07.370⟩

Communication dans un congrès hal-04280272v1

Concept de gènes actionnables et application dans le domaine neuromusculaire.

Gisèle Bonne , Martin Krahn

25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France

Communication dans un congrès hal-04189737v1

DNA damage repair in LMNA-related congenital muscular dystrophy

Marine Leconte , Anne Bertrand , Zoheir Guesmia , Gisèle Bonne , Gisèle Bonne

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189722v1

P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

J. de Winter , L. van de Vondel , Gisèle Bonne , T. Stojkovic , S. Elouej et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S139, ⟨10.1016/j.nmd.2023.07.290⟩

Communication dans un congrès hal-04280233v1

P431 Steroid treatment may change natural history in congenital laminopathies

M Gomez Garcia , R. Garcia-Uzquiano , L. Le Goff , V. Manel , I. Dabaj et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S160, ⟨10.1016/j.nmd.2023.07.372⟩

Communication dans un congrès hal-04280227v1

Steroid treatment may change natural history in congenital laminopathies

Rocio Garcia-Uzquiano , Marta Gomez-García de La Banda , Laure Le Goff , Veronique Manel , Ivana Dabaj et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189730v1

Linking actionable genes to the treatabolome in myopathies

Gisèle Bonne , Martin Krahn

NC-IUPHAR Symposium April 2023, Apr 2023, Paris, France

Communication dans un congrès hal-04078530v1

Treatabolome DB: linking gene and variants with treatments for rare diseases

A. Corvó , L. Matalonga , C. Hernandez-Ferrer , R. Thompson , L. Carmody et al.

Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic

Communication dans un congrès hal-04086225v1

Identification of potential genetic modifi ers underlying phenotypic variability in a French family with striated muscle laminopathies

Louise Benarroch , Anne T. Bertrand , Maud Beuvin , Isabelle Nelson , Naïra Naouar et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189567v1

Gene therapy for striated muscle laminopathy (in vivo study)

Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , Valérie Paradis et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain

Communication dans un congrès hal-04189734v1

How to solve rare diseases: systematic pan-European data sharing and collaborative analysis: the Solve-RD project

Gisèle Bonne

15th Congress of the European Paedriatric Neurology Society, European Paedriatric Neurology Society, Jun 2023, Prague, Czech Republic

Communication dans un congrès hal-04189585v1

P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools

A. Atalaia , R. Thompson , L. Matalonga , C. Hernandez-Ferrer , A. Corvo et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S142, ⟨10.1016/j.nmd.2023.07.301⟩

Communication dans un congrès hal-04280259v1

A robust and practical myogenic system to explore cellular and genomic features of muscle differentiation

L. Benarroch , J. Madsen-Østerbye , M. Abdelhalim , K. Mamchaoui , J. Ohana et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S158, ⟨10.1016/j.nmd.2023.07.363⟩

Communication dans un congrès hal-04280205v1

Investigating lineage-specifi c phenotypes of laminopathies using induced pluripotent stem cells

Noreen Khokhar , Cathleen Hagemann , Luca Pinton , Daniel Moore , Jean-Marie Cuisset et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189725v1

Comment résoudre les impasses diagnostiques des maladies rares : partage systématique des données paneuropéennes et analyse collaborative : le projet Solve-RD

Gisèle Bonne

Journée thématique sur l'errance et l'impasse diagnostiques - Filière Filnemus, Filnemus, Dec 2023, Paris, France

Communication dans un congrès hal-04319087v1

Recent insights in the pathophysiological mechanisms of striated muscle laminopathies

Rabah Ben Yaou , Louise Benarroch , Marine Leconte , Maud Beuvin , Isabelle Nelson et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189555v1

Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells

Magali Seguret , C. Jouve , Z R. Al Sayed , C. Pereira , V. Ragot et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189728v1

Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy

Daniel Moore , Heather Steele-Stallard , Luca Pinton , Valentina Lionello , Salma Jalal et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189588v1

Insights in the pathophysiological mechanisms of striated muscle Laminopathies

Gisèle Bonne

Ottawa NMD 2023 Conference, Sep 2023, Ottawa, Canada

Communication dans un congrès hal-04189748v1

Validation of Myo-converted fi broblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies

Louise Benarroch , Julia Madsen-Østerbye , Mohamed Abdelhalim , Kamel Mamchaoui , Jessica Ohana et al.

4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩

Communication dans un congrès hal-04189720v1

Insights in the pathophysiological mechanisms of striated muscle Laminopathies

Gisèle Bonne

European Meeting on Intermediate Filaments, Elly Hol, Jun 2023, Noorwijkerhout, Netherlands

Communication dans un congrès hal-04189581v1

P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)

A. Merlet , E. Lacène , I. Nelson , G. Brochier , C. Labasse et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S99, ⟨10.1016/j.nmd.2023.07.136⟩

Communication dans un congrès hal-04280238v1

O03 In vivo gene therapy for striated muscle laminopathy

M. Okubo , A. Brull , M. Beuvin , N. Mougenot , V. Paradis et al.

28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S67, ⟨10.1016/j.nmd.2023.07.018⟩

Communication dans un congrès hal-04280254v1

Development of gene therapy for striated muscle laminopathy

Mariko Okubo , Astrid Brull , Maud Beuvin , Gisèle Bonne , Anne T Bertrand

Cure CMD scientific and family conference, Jun 2022, Nashville, United States

Communication dans un congrès hal-04004853v1

Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)

Gisèle Bonne

European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy

Communication dans un congrès hal-03984504v1

Gene therapy for striated muscle laminopathy

Mariko Okubo , Astrid Brull , Isabelle Nelson , Maud Beuvin , Laura Julien et al.

12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France

Communication dans un congrès hal-03989233v1

Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)

Gisèle Bonne

MDUK Muscles Matter online seminar series Congenital muscular dystrophy (CMD), Mar 2022, Virtual conference, United Kingdom

Communication dans un congrès hal-03984491v1

Etude des dommages de l'ADN dans la dystrophie musculaire congénitale liée à LMNA

Marine Leconte , Gisèle Bonne , Anne T Bertrand

19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France

Communication dans un congrès hal-04004845v1

AAV-driven human BAG3 overexpression unexpectedly exacerbate heart failure in a LMNAH222P DCM mice model

Océane Piedallu , Perrine Devos , Nathalie Mougenot , Laetitia Duboscq-Bidot , Tiphaine Héry et al.

Printemps de la Cardiologie 2022, Jun 2022, Tours, France. pp.192, ⟨10.1016/j.acvdsp.2022.04.082⟩

Communication dans un congrès hal-04072101v1

Striated muscle laminopathies: Modifier variants

Gisèle Bonne

253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands

Communication dans un congrès hal-03984494v1

Origin of the increased severity of LMNA-related muscular dystrophy compared with Emery-Dreyfuss muscular dystrophy

Anne T Bertrand , Astrid Brull , Feriel Azibani , Ludovic Arandel , Gisèle Bonne

A hybrid workshop on the nuclear envelope, mechanobiology and rare diseases, Oct 2022, Singapore, Singapore

Communication dans un congrès hal-04004827v1

Patients’ registries: present and future

Gisèle Bonne

253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands

Communication dans un congrès hal-03984497v1

Striated muscle laminopathies, from gene defects to pathomechanisms and therapeutic approaches: what are we missing?

Gisèle Bonne

Discovering a cure for LMNA: Current strategies, crazy ideas and future collaborations, Apr 2022, Virtual conference, Netherlands

Communication dans un congrès hal-03984492v1

Cold Case (Season II): TTN deletion described after CNV analyses

Isabelle Nelson , German Demidov , Enzo Cohen , Aurélien Perrin , Mireille Cossée et al.

Solve-RD Annual Meeting 2022, Apr 2022, Virtual conference, Germany

Communication dans un congrès hal-03989193v1

Table Ronde: Quel avenir pour la recherche sur les maladies rares ?

Gisèle Bonne

Dix ans de contribution de l’ANR au domaine des maladies rares, Nov 2022, Paris, France

Communication dans un congrès hal-03984507v1

The clinico-genetic spectrum of Lamin A/C gene (LMNA) mutations

Gisèle Bonne

A hybrid workshop on the nuclear envelope, mechanobiology and rare disease, Oct 2022, Hybrid conference, Singapore

Communication dans un congrès hal-03984506v1

Discussion needed on how to define and select non-clinical biomarkers

Gisèle Bonne

253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands

Communication dans un congrès hal-03984500v1

Gene therapy for striated muscle laminopathies

Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , Gisèle Bonne et al.

European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy

Communication dans un congrès hal-04003052v1

The Treatabolome flags treatable genes and variants: an emerging concept

Gisèle Bonne

ERN-Euro-NMD-Eurordis CETF symposium, Nov 2021, Virtual conference, France

Communication dans un congrès hal-03984489v1

Molecular pathophysiological mechanisms of Cardiac Laminopathies

Gisèle Bonne

British Heart Fondation Centre virtual 2021 Symposium, Nov 2021, Virtual conference, United Kingdom

Communication dans un congrès hal-03984487v1

Treatabolome database: towards enhancing Rare Diseases’ treatment visibility

C. Hernandez-Ferrer , A. Corvó , L. Matalonga , R. Thompson , L. Carmody et al.

Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany

Communication dans un congrès hal-03988747v1

Striated muscle of Laminopathies, Scientific advances for the development of treatments

Gisèle Bonne

LMNACardio Foundation meeting, Oct 2021, Virtual conference, Netherlands

Communication dans un congrès hal-03984485v1

LMNA (Laminopathy) Research

Gisèle Bonne

Cure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States

Communication dans un congrès hal-03984482v1

Solve-RD: Un projet Européen visant à réduire l’errance diagnostique

Gisèle Bonne

Eunjeux et Défis de la Recherche dans les Maladies Rares - Fondation Malaides Rares, May 2021, Conference - Online., France

Communication dans un congrès hal-03984480v1

The Treatabolome flags treatable genes and variants: an emerging concept

A Atalaia , C Hernandez Ferrer , A Corvó , L Matalonga , R Thompson et al.

ERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany

Communication dans un congrès hal-03989142v1

History and discovery of Laminopathy , Scientific advances for the development of treatments

Gisèle Bonne

Symposium on Rare Diseases in Puerto Rico from the Capitol, Jul 2021, Virtual conference, Puerto Rico

Communication dans un congrès hal-03984484v1

Cold Case: Patient with only one CAPN3 variant

Isabelle Nelson , Enzo Cohen , Rabah Ben Yaou , France Leturq , Juliette Nectoux et al.

Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany

Communication dans un congrès hal-03988006v1

WP3 Task 3. Treatabolome

Antonio Atalaia , Gisèle Bonne

Solve-RD Annual Meeting, Mar 2020, Barcelona, Spain

Communication dans un congrès hal-03986988v1

Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathy

Enzo Cohen , Isabelle Nelson , Corine Gartioux , Maud Beuvin , Zaineb Mezdari et al.

ASSISES DE GÉNÉTIQUE HUMAINE ET MÉDICALE, Jan 2020, Tours, France

Communication dans un congrès hal-03986985v1

Gene therapy for LMNA-related congenital muscular dystrophy

Anne T Bertrand , Astrid Brull , Feriel Azibani , Ludovic Arandel , Gisèle Bonne

Cure CMD scientific and family conference, Nov 2020, Virtual conference, United States

Communication dans un congrès hal-04004849v1

Laminopathy of the striated muscle: from the gene defects to therapeutic approaches

Gisèle Bonne

Invited Seminar by Prof I Perez at Unidad de Terapia Génica, Instituto de Investigación de Enfermedades Raras, Feb 2020, Madrid, Spain

Communication dans un congrès hal-03984464v1

Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

E Cohen , I Nelson , C Gartioux , M Beuvin , Z Mezdari et al.

New Directions in Skeletal Muscle Biology, Jun 2020, Virtual conference (Covid), United States

Communication dans un congrès hal-04004866v1

Solved-RD WP3 progress update

Gisèle Bonne

Solve-RD Annual Steering Committee Meeting, Sep 2020, Virtual Conference, Germany

Communication dans un congrès hal-03984472v1

The Concept of Treatabolome

Gisèle Bonne

ESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom

Communication dans un congrès hal-03984475v1

Actions Recherche

Gisèle Bonne

Journée de la Filière en Santé Maladies Neuromusculaire Rares, Filnemus, Oct 2020, Conference - Online., France

Communication dans un congrès hal-03984478v1

Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

E. Cohen , I. Nelson , C. Gartioux , M. Beuvin , Z. Mezdari et al.

25th International Congress of the World-Muscle-Society (WMS), Sep 2020, ELECTR NETWORK, France. pp.S47, ⟨10.1016/j.nmd.2020.08.007⟩

Communication dans un congrès hal-03867603v1

Modelling skeletal muscle laminopathies with human iPS cells and bio-engineered skeletal muscles: Prospects for genetic therapies

L Pinton , D Moore , H Steele-Stallard , S Sarcar , T Ozdemir et al.

ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. pp.OR11

Communication dans un congrès hal-03983924v1

Laminopathy of the striated muscle: from the gene defects to therapeutic approaches

Gisèle Bonne

11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING 2019, Jun 2019, Turku, Finland

Communication dans un congrès hal-03984461v1

Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMD.

Anne T Bertrand , Astrid Brull , Feriel Azibani , Monika Zwerger , Colin Stewart et al.

11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland

Communication dans un congrès hal-03986896v1

Laminopathy of the striated muscle: from the gene defects to therapeutic approaches

Gisèle Bonne

26th Wilhelm Bernhard Workshop on the Cell Nucleus, May 2019, Dijon, France

Communication dans un congrès hal-03984458v1

Risk stratification for sudden death in laminopathies

Karim Wahbi , Rabah Ben Yaou , Caroline Stalens , Corinne Vigouroux , Gisèle Bonne et al.

9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom

Communication dans un congrès hal-03986944v1

New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

K Wahbi , R Ben Yaou , E Gandjbakhch , F Anselme , T Gossios et al.

Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, Aug 2019, Paris, France. pp.5164

Communication dans un congrès hal-03983930v1

miRNA-processing pathway is impaired in skeletal muscle laminopathies

Astrid Brull , Isabelle Nelson , Maud Beuvin , Gisèle Bonne , Anne T. Bertrand

11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland

Communication dans un congrès hal-03986899v1

TOWARDS THERAPY: REGISTRIES, BIOBANKS, TREATABLE VARIANTS

Gisèle Bonne

Solve-RD Annual Meeting, Feb 2019, Radboud University Medical Center (UMC), Nijmegen,, Netherlands

Communication dans un congrès hal-03984450v1

Laminopathy of the striated muscle: from the gene defects to therapeutic approaches

Gisèle Bonne

Séminaire UMR Inserm 1011 – Université Lille, Apr 2019, Lilles, France

Communication dans un congrès hal-03984453v1

LMNA-linked lipodystrophy : new insight on cardiovascular phenotypes

Corinne Vigouroux , Rabah Ben Yaou , Isabelle Jeru , Caroline Stalens , Olivier Lascols et al.

9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom

Communication dans un congrès hal-03986922v1

European Network for Laminopathies management: Network Activities

Gisèle Bonne

Satellite Meeting​ European Network for Laminopathies Meeting, Sep 2019, Kings College, London, United Kingdom

Communication dans un congrès hal-03984462v1

Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

M. Gomez Garcia de la Banda , D. Natera-de Benito , I. Dabaj , R. Ben Yaou , C. Ortez et al.

24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. pp.S141, ⟨10.1016/j.nmd.2019.06.370⟩

Communication dans un congrès hal-03973469v1

Insights in the pathophysiology of LMNA-related congenital muscular dystrophy

Gisèle Bonne

4th Joint Meeting Belgian-Dutch Neuromuscular Study Group & German Reference Center for Neuromuscular Diseases, May 2018, Valls, Netherlands

Communication dans un congrès hal-03983950v1

Keynote Lecture : Laminopathies from the first mutation to therapeutic avenues

Gisèle Bonne

Rare Diseases Summer School - Rare Disease Initiative Zürich, Jul 2018, Kartause Ittingen, Warth, Switzerland

Communication dans un congrès hal-03984433v1

Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies

Jocelyn Laporte , Raphael Schneider , Edoardo Malfatti , Gisèle Bonne , France Leturcq et al.

9èmes Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France

Communication dans un congrès hal-03986850v1

KLF10 regulates skeletal muscle metabolism in mice

Malek Kammoun , Vladimir Veksler , Jérôme Piquereau , Gisèle Bonne , Isabelle Nelson et al.

American Society for Bone and Mineral Research Annual Meeting, American Society for Bone and Mineral Research, Sep 2018, Montréal, Canada

Communication dans un congrès hal-01981364v1

Striated muscle Laminopathies from gene defects to pathophysiology mechanisms

Gisèle Bonne

13th Meeting of the Mediterranean Society of Myology in connection with the 2nd Congress of the Turkish Neuromuscular Society, Jun 2018, Avanos, Cappadocia, Turkey

Communication dans un congrès hal-03984438v1

Laminopathies: unveiling the pathophysiology

Gisèle Bonne

Gordon Research Conference on Intermediate filaments, Jun 2018, Rennaissance Tuscany Il Ciocco, Italy

Communication dans un congrès hal-03984444v1

The Laminopathies

Gisèle Bonne

Invited Seminar by Porf Alessandra Ferlini, May 2018, Ferrara, Italy

Communication dans un congrès hal-03984446v1

Insights in the pathophysiology of LMNA-related congenital muscular dystrophy

Gisèle Bonne

The Nuclear Lamina and nuclear organization. Cost School & The Batsheva de Rothschild Seminar., Jun 2017, Yearim, Israel

Communication dans un congrès hal-03972905v1

Insights in the pathophysiology of striated muscle Laminopathies

Gisèle Bonne

2nd International Meeting on Laminopathies, Giovanna Lattanzi, Apr 2017, Bologna, Italy

Communication dans un congrès hal-03972901v1

A new gene for myopathies with prominent contractures?

Valérie Allamand , Isabelle Nelson , Maud Beuvin , Corine Gartioux , Fanny Roth et al.

Journée Filnemus 2017, Nov 2017, Paris, France

Communication dans un congrès hal-04029252v1

Integrated analysis of the large-scale sequencing project ``Myocapture'' to identify novel genes for myopathies

J. Bohm , R. Schneider , E. Malfatti , V. Schartner , X. Lornage et al.

22nd International Congress of the World Muscle Society, Oct 2017, Saint Malo, France. pp.S195, ⟨10.1016/j.nmd.2017.06.367⟩

Communication dans un congrès istex hal-01741738v1

Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy.

Gisèle Bonne

The Pleiotropic Nuclear Envelope, John McIntyre Conference Centre, University of Edinburgh, Aug 2017, Edinburgh (Ecosse), United Kingdom

Communication dans un congrès hal-03972911v1

Insights in the pathophysiology of striated muscle Laminopathies

Gisèle Bonne

Workshop of COST Action CA15214 An Integrative Action for Multidisciplinary Studies on Cellular Structural Networks, Pavel Hodzak, Mar 2017, Prague, Czech Republic

Communication dans un congrès hal-03972189v1

Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy

A. Solares Perez , C. Gartioux , M. Beuvin , M. Viou Thao , J. Laine et al.

17th International Congress of the World-Muscle-Society (WMS), Oct 2012, Perth, Australia. pp.827-828, ⟨10.1016/j.nmd.2012.06.088⟩

Communication dans un congrès hal-03867637v1

Epidémiologie descriptive des troubles de santé après mise en place chez les jeunes bovins allotés

Nathalie Bareille , Sébastien Assie , G. Bonne , A. Thabard , Henri H. Seegers

Journées Nationales des Groupements Techniques Vétérinaires (GTV), May 2007, Nantes, France

Communication dans un congrès hal-02751991v1

Titin copy number variations associated with dominant inherited phenotypes

Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov et al.

Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic

Poster de conférence hal-04086226v1

Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

Jonathan De Winter , Liedewei van De Vondel , Gisèle Bonne , Tanya Stojkovic , Sahar Elouej et al.

Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic

Poster de conférence hal-04086227v1

Elucidating the molecular biology of Inclusion body Myositis through multi-omics analysis

Mridul Johari , Daphne Wijnbergen , Alaa Khan , Pedro Machado , Henry Houlden et al.

Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic

Poster de conférence hal-04086230v1

Expérience de l’utilisation des corticoïdes dans les laminopathies de l’enfant

Rocio García-Uzquiano , Marta Gómez-García de la Banda , Laure Le Goff , Véronique Manel , Ivana Dabaj et al.

32 ème congrès de la Société Française de Neurologie Pédiatrique, Marseille, Jan 2023, Marseille (FRANCE), France

Poster de conférence hal-04015316v1

Gene therapy for striated muscle laminopathy

Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , Valérie Paradis et al.

7th international congress of myology - Myology2022, Sep 2022, Nice, France

Poster de conférence hal-04004819v1

Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies

L. Benarroch , A. Bertrand , M. Beuvin , I. Nelson , N. Naouar et al.

27th 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-03983832v1

Editing the Nuclear Envelope: Using Human iPS Cells and CRISPR-Cas Technology to Develop Novel Therapies for Skeletal Muscle Laminopathies

Gisèle Bonne , D Moore, , V Lionello, , S Jalal, , Hs Stallard, et al.

29th 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

Poster de conférence hal-03983868v1

LOXL4 loss-of-function: a novel cause of matrisome-related disease

Enzo Cohen , Isabelle Nelson , Corine Gartioux , Maud Beuvin , Zaineb Mezdari et al.

7th international congress of myology - Myology2022, Sep 2022, Nice, France

Poster de conférence hal-04003081v1

miRNA-processing pathway is impaired in striated muscle laminopathies

Astrid Brull , Maud Beuvin , Isabelle Nelson , Gisèle Bonne , Anne T. Bertrand

7th international congress of myology: Myology2022, Sep 2022, Nice Acropolis, France

Poster de conférence hal-03992829v1

Solve-RD, solving unsolved cold cases: TTN deletion described thanks to a systematic Copy Number Variant/Structural Variant (CNV/SV) reanalysis

Isabelle Nelson , Enzo Cohen , German Demidov , Aurélien Perrin , Mireille Cossée et al.

7th international congress of myology - Myology2022, Sep 2022, Nice, France

Poster de conférence hal-04004807v1

OPALE: a patient registry for laminopathies and emerinopathies in France

R. Ben Yaou , F. Anselme , A. de Sande-Giovannoli , E. Campanna-Salort , P. Charron et al.

27th 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-03983839v1

Analyses fonctionnelles et études de corrélation phénotype-génotype chez des patients suspects de titinopathie

Aurélien Perrin , Charles Van Goethem , Corinne Métay , Raul Juntas Morales , Françoise Chapon et al.

19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France

Poster de conférence hal-04004837v1

Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility

A Atalaia , C Hernandez Ferrer , A Corvó , L Matalonga , R Thompson et al.

Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany

Poster de conférence hal-03989222v1

OPALE: A patient registry for Laminopathies and Emerinopathies in France.

Rabah Ben Yaou , Frédéric Anselme , Annachiara de Sandre-Giovannoli , Emmanuelle Campanna-Salort , Philippe Charron et al.

19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France

Poster de conférence hal-04003074v1

OPALE: A patient registry for Laminopathies and Emerinopathies in France.

Rabah Ben Yaou , Frédéric Anselme , Emmanuelle Campanna-Salort , Philippe Charron , Cathy Chikhaoui et al.

7th international congress of Myology - Myology2022, Sep 2022, Nice, France

Poster de conférence hal-04003067v1

Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies

Louise Benarroch , Anne T. Bertrand , Maud Beuvin , Isabelle Nelson , Floriane Simonet et al.

7th international congress of myology - Myology2022, Sep 2022, Nice, France

Poster de conférence hal-04004811v1

The α2-subunit of the AP2 clathrin adaptor as a new causal gene in an atypical myopathy with granulofilamentous inclusions

Gilles Moulay , Isabelle Nelson , Jeanne Lainé , Enzo Cohen , Mégane Lemaître et al.

Congress of the World Muscle Society, Sep 2021, Virtual, France. 2021

Poster de conférence hal-03967904v1

The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions

G. Moulay , I. Nelson , J. Lainé , E. Cohen , M. Lemaître et al.

26th 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-03983816v1

The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.

Carles Hernandez-Ferrer , Leslie Matalonga , Rachel Thompson , Leigh Carmody , Davide Piscia et al.

European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom

Poster de conférence hal-03988844v1

Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement

S. Elouej , I. Nelson , E. Cohen , R. Ben Yaou , A. Isapof et al.

26th 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-03983822v1

Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMD

Anne T. Bertrand , Astrid Brull , Feriel Azibani , Monika Zwerger , Colin Stewart et al.

Cure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States

Poster de conférence hal-03988774v1

Treatabolome database: towards enhancing Rare Diseases' treatment visibility

C Hernandez-Ferrer, , A Corvo, , L Matalonga, , R Thompson, , L Carmody, et al.

54th 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-03983893v1

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy

Anne T Bertrand , Astrid Brull , Feriel Azibani , Louise Benarroch , Khadija Chikhaoui et al.

18èmes Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France

Poster de conférence hal-03989163v1

The Treatabolome flags treatable genes and variants: an emerging concept

A. Atalaia , R. Thompson , L. Matalonga , C. Hernandez-Ferrer , A. Corvo et al.

26th 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-03983828v1

Objective evaluation of clinical actionability for genes involved in myopathies: 34 promising genes

M Vecten, , E Pion, , Rj Morales, , D Sternberg, , J Rendu, et al.

26th 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-03983901v1

Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

Enzo Cohen , Isabelle Nelson , Corine Gartioux , Maud Beuvin , Zaineb Mezdari et al.

Solve-RD Annual Meeting, Mar 2020, Barcelona, Spain

Poster de conférence hal-03986992v1

Treatabolome: a rare diseases treatment awareness project

A Atalaia , R Thompson , A Corvo , L Carmody , D Piscia et al.

ESHG 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-03983888v1

Treatabolome: a rare diseases treatment awareness project

A Atalaia , R Thompson , A Corvo , L Carmody , D Piscia et al.

10th European Conference on Rare Diseases & Orphan Products 2020., May 2020, Virtual conference, Belgium

Poster de conférence hal-03986996v1

Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy

A Brull , I Nelson , M Beuvin , F Azibani , Gisèle Bonne et al.

ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. Hum. Gene Ther., 30 (11), pp.P484, 2019

Poster de conférence hal-03983916v1

Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients

S. Torelli , D. Scaglioni , V. Sardone , J. Domingos , A. Jones et al.

24th 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 istex hal-03973454v1

The SOLVE-RD project: sharing patients’ data to diagnose rare diseases

Enzo Cohen , Isabelle Nelson , Valérie Allamand , Maud Beuvin , Corine Gartioux et al.

6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France

Poster de conférence hal-03986811v1

Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy

Anne T. Bertrand , Astrid Brull , Feriel Azibani , Bruno Cadot , Monika Zwerger et al.

6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France

Poster de conférence hal-03986752v1

Mechanically-induced nuclear damage and increased p53 signaling lead to myofiber dysfunction in skeletal muscle laminopathies

Tyler J. Kirby , Ashley J. Earle , Gregory R. Fedorchak , Philipp Isermann , Jineet Patel et al.

9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom

Poster de conférence hal-03986939v1

LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

R. Ben Yaou , T. Stojkovic , Mathieu Cerino , F. Duval , R. Juntas-Morales et al.

24th 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 istex hal-03973478v1

miRNA-processing pathway is impaired in skeletal muscle laminopathies

Astrid Brull , Isabelle Nelson , Maud Beuvin , Gisèle Bonne , Anne T Bertrand

17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France

Poster de conférence hal-03986975v1

Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathy

Enzo Cohen , Isabelle Nelson , Corine Gartioux , Maud Beuvin , Zaineb Mezdari et al.

17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France

Poster de conférence hal-03986965v1

Nuclear export of YAP requires functional LINC complexes in skeletal muscle

Daniel J. Owens , Martina Fischer , Kamel Mamchaoui , Sophie Moog , Gisèle Bonne et al.

Satellite Meeting​ European Network for Laminopathies Meeting, Sep 2019, London, United Kingdom

Poster de conférence hal-03986932v1

Gene therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD)

Astrid Brull , Isabelle Nelson , Maud Beuvin , Feriel Azibani , Gisèle Bonne et al.

6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France

Poster de conférence hal-03986729v1

Myocapture: a large-scale sequencing project to identify novel genes for myopathies

Xavière Lornage , Raphaël Schneider , Chrystel Chéraud , Edoardo Malfatti , Vanessa Schartner et al.

Myologie 2019, Mar 2019, Bordeaux, France

Poster de conférence hal-04029248v1

Haploinsufficiency and dominant negative effects of mutant lamin A/C both contribute to the increased severity of L-CMD compared with EDMD.

Anne T. Bertrand , Astrid Brull , Feriel Azibani , Louise Benarroch , Monika Zwerger et al.

17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseiile, France

Poster de conférence hal-03986960v1

MODELLING SKELETAL MUSCLE LAMINOPATHIES USING HUMAN iPS CELLS AND BIO-ENGINEERED SKELETAL MUSCLES

Luca Pinton , Heather Steele-Stallard , Daniel Moore , Shilpita Sarcar , Tanel Ozdemir et al.

9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom

Poster de conférence hal-03986927v1

LES CORTICOIDES ORAUX, UNE OPTION THERAPEUTIQUE DANS LES LAMINOPATHIES CONGENITALES ?

M Gomez-Garcia de la Banda , I Dabaj , R Ben Yaou , N Clarke , A Nascimento et al.

17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France

Poster de conférence hal-03986950v1

Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy

Astrid Brull , Isabelle Nelson , Maud Beuvin , Feriel Azibani , Gisèle Bonne et al.

17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France

Poster de conférence hal-03986971v1

Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

M. Beuvin , E. Lacène , C. Labasse , G. Brochier , A. Madelaine et al.

24th 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 istex hal-03973473v1

Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophy

F Azibani , A Brull , L Arandel , M Beuvin , I Nelson et al.

Conference 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-03983935v1

Nouvelle mutation d’épissage du gène POPDC1 (BVES) associée à des blocs de conduction cardiaque du 1er degré et une dystrophie musculaire

Isabelle Nelson , Maud Beuvin , Rabah Ben-Yaou , Cecile Masson , Anne Boland et al.

9èmes Assises de génétique humaine et médicale, Jan 2018, Nantes, France.

Poster de conférence hal-03986833v1

Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype

V. Sardone , J. Domingos , S. Torelli , A. Jones , M. Ellis et al.

11th 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 istex hal-03973445v1

Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies

E. Malfatti , R. Avila-Polo , X. Lornage , I. Nelson , J. Nectoux et al.

23rd 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 istex hal-03973451v1

BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders

I. Nelson , W. de Ridder , B. Asselbergh , B. de Paepe , M. Beuvin et al.

23rd 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-03973447v1

Collagen VI deficiency: the heart of the matter

Margot Saunier , Corine Gartioux , Maud Beuvin , Nathalie Mougenot , Gisèle Bonne et al.

Printemps de la Cardiologie, Apr 2017, Nantes, France

Poster de conférence hal-03996993v1

First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study

R. Ben Yaou , I. Dabaj , P. Yun , G. Norato , H. Xiong et al.

22nd 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 istex hal-03973439v1

POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?

R. Rossi , C. Scotton , P. Barton , R. Buchan , R. Walsh et al.

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-03973396v1

POPDC1 gene mutations screening in laminopathies: possible role as a modifier

R Rossi , C Scotton , M Lorenzo , A d'Amico , G Ricci et al.

50th 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-03983938v1

Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

Mathieu Cerino , Svetlana Gorokhova , P. Laforêt , R. Ben Yaou , Emmanuelle Salort-Campana et al.

22nd 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-03973434v1

Loss of TIEG expression results in defective skeletal muscle structure and function with associated impairment of mitochondrial biogenesis.

M Kammoun , V Veksler , J Piquereau , Gisèle Bonne , I Nelson et al.

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-03983941v1

Abnormal trafficking of connexin 43: A key element in the development of LMNA cardiomyopathy

C. Macquart , M. Chatzifrangkeskou , M. Gotthardt , Gisèle Bonne , A. Muchir

22nd 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-03973377v1

A novel INPP5K mutation in a sibship from the Reunion Island

I. Nelson , M. Jacquemont , A. Urtizberea , M. Renouil , A. Boland et al.

22nd 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-03973393v1

A muscle hybrid promoter provides specific and effective gene expression after intramuscular and systemic delivery with AAV

K Piekarowicz , M Beuvin , M Machowska , A Bertrand , Gisèle Bonne et al.

European-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-03983944v1

Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

I. Dabaj , R. Ben Yaou , C. Bönnemann , A. Nascimento , A. Rutkowski et al.

22nd 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-03973411v1

Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy

Anne T Bertrand , Feriel Azibani , Bruno Cadot , Monica Zwerger , Colin Stewart et al.

10th European meeting on Intermediate filaments, Jun 2017, Saint Malo, France

Poster de conférence hal-03986879v1

TIEG1 is a novel regulator of muscle mitochondrial biogenesis

M. Kammoun , V. Veksler , J. Piquereau , Gisèle Bonne , M. Beuvin et al.

22nd 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-03973380v1

Morphological spectrum of RYR1 recessive myopathies: clinical and genetic correlation

M Garibaldi , J Rendu , E Lacene , G Brochier , Maud Bauvin et al.

Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017

Poster de conférence hal-03968355v1

Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.

M. Garibaldi , J. Rendu , E. Lacene , G. Brochier , M. Beuvin et al.

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-03973385v1

Collagen VI deficiency: The heart of the matter

M. Saunier , C. Gartioux , M. Beuvin , N. Mougenot , G. Bonne et al.

22nd 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-03996987v1

Nuclear envelope protein lamin A/C is a crucial mechanosensory component for skeletal muscle plasticity

Daniel Owens , Julien Messeant , G Herledan , Arnaud Ferry , Anne Bertrand et al.

International Congress of Neuromuscular Disorders, Sep 2017, Ottawa, Canada. 2017

Poster de conférence hal-03968419v1

Novel recessive splice site mutation in POPDC1 ( BVES ) is associated with first-degree atrioventricular block and muscular dystrophy

I. Nelson , M. Beuvin , R. Ben-Yaou , C. Masson , A. Boland et al.

22nd 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-03972940v1
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The Treatabolome, an emerging concept

Gisèle Bonne

Journal of Neuromuscular Diseases, 8 (3), pp.337-339, 2021, ⟨10.3233/JND-219003⟩

N°spécial de revue/special issue hal-03856200v1