Publications Authored by Gisele Bonne

FHL1 is a major host factor for chikungunya virus infection.

Nature 2019 Oct 25;574(7777):259-263. Epub 2019 Sep 25.

INSERM U944, CNRS UMR 7212, Genomes & Cell Biology of Disease Unit, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, Paris, France.

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http://dx.doi.org/10.1038/s41586-019-1578-4	DOI Listing

October 2019

Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy.

Authors:

Nicolas Vignier Nathalie Mougenot Gisèle Bonne Antoine Muchir

Biochem Biophys Rep 2019 Sep 12;19:100664. Epub 2019 Jul 12.

Sorbonne Université, INSERM UMRS974 Centre de Recherche en Myologie, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651, Paris Cedex 13, France.

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http://dx.doi.org/10.1016/j.bbrep.2019.100664	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630059	PMC

September 2019

Novel Role of Tieg1 in Muscle Metabolism and Mitochondrial Oxidative Capacities.

Authors:

Malek Kammoun Jerome Piquereau Lydie Nadal-Desbarats Sandra Même Maud Beuvin Gisèle Bonne Vladimir Veksler Yann Le Fur Philippe Pouletaut William Même Frederic Szeremeta Jean-Marc Constans Elizabeth S Bruinsma Molly H Nelson Holte Zeynab Najafova Steven A Johnsen Malayannan Subramaniam John R Hawse Sabine F Bensamoun

Acta Physiol (Oxf) 2019 Sep 27:e13394. Epub 2019 Sep 27.

Alliance Sorbonne Universités, Université de Technologie de Compiègne, Biomechanics and Bioengineering Laboratory, UMR CNRS, 7338, Compiègne, France.

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http://dx.doi.org/10.1111/apha.13394	DOI Listing

September 2019

Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice.

Authors:

Eiji Wada Megumi Kato Kaori Yamashita Hiroko Kokuba Wen-Chen Liang Gisèle Bonne Yukiko K Hayashi

PLoS One 2019 20;14(8):e0221512. Epub 2019 Aug 20.

Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0221512	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701770	PMC

August 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:

Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 Jul 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410	DOI Listing

July 2019

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in .

Neurol Genet 2019 Apr 1;5(2):e321. Epub 2019 Apr 1.

Neurogenetics Group (W.D.R., P.D.J., J.B.), University of Antwerp; the Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born- Bunge, University of Antwerp; the Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Sorbonne Université (I.N., M.B., R.B.Y., G.B.), INSERM U974, Center of Research in Myology, Institute of Myology, G.H. Pitié-Salpêtrière Paris, France; Histology and Cellular Imaging (B.A.), Neuromics Support Facility, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp; Laboratory for Neuropathology (B.D.P., J.D.B.), Division of Neurology, Ghent University Hospital, Belgium; AP-HP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-deFrance (R.B.Y., B.E.), G.H. Pitié-Salpêtrière, Bioinformatics Unit (C.M.), Necker Hospital, AP-HP, and University Paris Descartes, ; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry; Laboratoire de Neuropathologie (T.M.), G.H. Pitié-Salpêtrière, Paris, France; Center for Medical Genetics (S.S.), Ghent University Hospital, Belgium; Developmental Dynamics, Imperial Centre for Experimental and Translational Medicine (R.S., T.B.), Imperial College London; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000321	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641	PMC

April 2019

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

Authors:

Nadine Ame van der Beek Isabelle Nelson Roseline Froissart Thierry Levade Virginie Garcia Emmanuelle Lacene Anne Boland Cécile Masson Norma B Romero Tanya Stojkovic Gisèle Bonne Anthony Béhin

Eur J Hum Genet 2019 03 5;27(3):337-339. Epub 2018 Oct 5.

APHP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://www.nature.com/articles/s41431-018-0250-z	Publisher Site
http://dx.doi.org/10.1038/s41431-018-0250-z	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460556	PMC

March 2019

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.

Authors:

Rachel Thompson Gisèle Bonne Paolo Missier Hanns Lochmüller

Emerg Top Life Sci 2019 Mar 28;3(1):19-37. Epub 2019 Jan 28.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1042/ETLS20180100	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436731	PMC

March 2019

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

Authors:

David GóMez-Andrés Jordi Díaz-Manera Aida Alejaldre Irene Pulido-Valdeolivas Laura GonzáLez-Mera Montse Olivé Juan José Vilchez Adolfo LóPez De Munain Carmen Paradas Nuria Muelas Ángel SáNchez-MontáÑez Alicia Alonso-Jimenez Marta Gómez García De la Banda Ivana Dabaj Gisèle Bonne Francina Munell Robert Y Carlier Susana Quijano-Roy

Muscle Nerve 2018 12 18;58(6):812-817. Epub 2018 Nov 18.

APHP, Neuromuscular Disorders Unit, Pediatric Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM, Garches, France.

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http://doi.wiley.com/10.1002/mus.26312	Publisher Site
http://dx.doi.org/10.1002/mus.26312	DOI Listing

December 2018

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

J Neuropathol Exp Neurol 2018 12;77(12):1101-1114

Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn	Publisher Site
http://dx.doi.org/10.1093/jnen/nly095	DOI Listing

December 2018

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

Authors:

Gisèle Bonne François Rivier Dalil Hamroun

Neuromuscul Disord 2018 12 27;28(12):1031-1063. Epub 2018 Sep 27.

CHRU de Montpellier, Direction de la Recherche et de l'Innovation, Hôpital La Colombière, Montpellier, France.

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http://dx.doi.org/10.1016/j.nmd.2018.09.006	DOI Listing

December 2018

Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation.

Authors:

Nicolas Vignier Maria Chatzifrangkeskou Blanca Morales Rodriguez Mathias Mericskay Nathalie Mougenot Karim Wahbi Gisèle Bonne Antoine Muchir

Hum Mol Genet 2018 11;27(22):3870-3880

Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddy278	DOI Listing

November 2018

[Diagnostic odyssey at the heart of the 3 National Initiative for Rare Disorders].

Authors:

Gisèle Bonne Jean Pouget

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2. Epub 2018 Nov 12.

Coordinateur de la filière nationale Filnemus.

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http://dx.doi.org/10.1051/medsci/201834s201	DOI Listing

November 2018

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Authors:

Aurélien Perrin Philippe Latour Vincent Procaccio Claude Jardel Mathieu Cérino Gisèle Bonne Emmanuelle Salort-Campana J Andoni Urtizberea Jean Pouget Martin Krahn Mireille Cossée

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:20-22. Epub 2018 Nov 12.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France - APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.

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https://www.medecinesciences.org/10.1051/medsci/201834s206	Publisher Site
http://dx.doi.org/10.1051/medsci/201834s206	DOI Listing

November 2018

N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene.

Authors:

Blanca Morales Rodriguez Lara Khouzami Valérie Decostre Shaida Varnous Vanja Pekovic-Vaughan Christopher J Hutchison Françoise Pecker Gisèle Bonne Antoine Muchir

Hum Mol Genet 2018 10;27(19):3353-3360

Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddy243	DOI Listing

October 2018

The Pathogenesis and Therapies of Striated Muscle Laminopathies.

Authors:

Astrid Brull Blanca Morales Rodriguez Gisèle Bonne Antoine Muchir Anne T Bertrand

Front Physiol 2018 30;9:1533. Epub 2018 Oct 30.

Sorbonne Université, INSERM, Institut de Myologie, Center of Research in Myology, UMRS 974, Paris, France.

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https://www.frontiersin.org/article/10.3389/fphys.2018.01533	Publisher Site
http://dx.doi.org/10.3389/fphys.2018.01533	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218675	PMC

October 2018

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

Hum Mol Genet 2018 09;27(17):3060-3078

Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddy215	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097156	PMC

September 2018

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.

Authors:

Kevin Yauy David Baux Henri Pegeot Charles Van Goethem Charly Mathieu Thomas Guignard Raul Juntas Morales Delphine Lacourt Martin Krahn Vilma-Lotta Lehtokari Gisele Bonne Sylvie Tuffery-Giraud Michel Koenig Mireille Cossée

J Mol Diagn 2018 07 22;20(4):465-473. Epub 2018 Apr 22.

Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France; Laboratoire de Génétique des Maladies Rares EA7402, Université de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.jmoldx.2018.03.009	DOI Listing

July 2018

Microtubule cytoskeleton regulates connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.

Authors:

Coline Macquart Rene Jüttner Caroline Le Dour Maria Chatzifrangkeskou Alain Schmitt Michael Gotthardt Gisèle Bonne Antoine Muchir

Hum Mol Genet 2018 Jun 8. Epub 2018 Jun 8.

Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddy227	DOI Listing

June 2018

The C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time.

Authors:

Eleonora Cavallari Carla Carrera Matteo Sorge Gisèle Bonne Antoine Muchir Silvio Aime Francesca Reineri

Sci Rep 2018 05 30;8(1):8366. Epub 2018 May 30.

Department of Molecular Biotechnologies and Health Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1038/s41598-018-26583-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976640	PMC

May 2018

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells.

Authors:

Alexandre Janin Delphine Bauer Francesca Ratti Camille Valla Anne Bertrand Emilie Christin Emilie Chopin Nathalie Streichenberger Gisèle Bonne Vincent Gache Tatiana Cohen Alexandre Méjat

Sci Rep 2018 04 4;8(1):5618. Epub 2018 Apr 4.

University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France.

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http://dx.doi.org/10.1038/s41598-018-23918-x	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884786	PMC

April 2018

Lamin and the heart.

Authors:

Gabriella Captur Eloisa Arbustini Gisèle Bonne Petros Syrris Kevin Mills Karim Wahbi Saidi A Mohiddin William J McKenna Stephen Pettit Carolyn Y Ho Antoine Muchir Paul Gissen Perry M Elliott James C Moon

Heart 2018 03 25;104(6):468-479. Epub 2017 Nov 25.

Biomedical Research Center, NIHR University College London Hospitals, London, UK.

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http://dx.doi.org/10.1136/heartjnl-2017-312338	DOI Listing

March 2018

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.

Authors:

Feriel Azibani Astrid Brull Ludovic Arandel Maud Beuvin Isabelle Nelson Arnaud Jollet Esma Ziat Bernard Prudhon Sofia Benkhelifa-Ziyyat Marc Bitoun Stéphanie Lorain Gisèle Bonne Anne T Bertrand

Mol Ther Nucleic Acids 2018 Mar 30;10:376-386. Epub 2017 Dec 30.

Sorbonne Université, INSERM UMRS_974, Center of Research in Myology, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2017.12.012	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862133	PMC

March 2018

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Nucleus 2018 01;9(1):292-304

j Institute of Molecular Genetics (IGM)-CNR, Unit of Bologna , Bologna , Italy.

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http://dx.doi.org/10.1080/19491034.2018.1467722	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973167	PMC

January 2018

Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy.

Authors:

Céline Tard Vincent Tiffreau Emmanuelle Jaillette Fabienne Jouen Isabelle Nelson Gisèle Bonne Rabah Ben Yaou Norma Romero Louis Vallée Patrick Vermersch Sylvie Nguyen Claude-Alain Maurage Jean-Marie Cuisset

Neuropediatrics 2017 12 4;48(6):473-476. Epub 2017 Aug 4.

Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France.

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http://dx.doi.org/10.1055/s-0037-1604402	DOI Listing

December 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.

Neurol Genet 2017 Dec 18;3(6):e208. Epub 2017 Dec 18.

Assistance Publique-Hôpitaux de Paris (APHP) (R.B.Y., B.E., P.L.), Groupe Hospitalier Universitaire la Pitié-Salpêtrière, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie; Sorbonne Universités (R.B.Y., I.N., M.B., G.B.), UPMC Université Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Paris; Department of Molecular Genetics (A.H., F.P., F.M.P.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Clamart; Department of Pediatrics (A.H., P.L.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Referal Center for Metabolic Liver Inherited Diseases, Clamart, and Université Paris-Sud, France; Department of Neurology (J.R.D., T.K., J.V.), Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen; Department of Neurology (D.G.), Odense University Hospital, Denmark; Hospices Civils de Lyon (N.S.), Groupement Hospitalier Est, Centre de Pathologie et Neuropathologie Est, Service de Neuropathologie, Université Claude-Bernard Lyon 1, CNRS UMR5239, LBMC, ENS; AP-HM, Département de Génétique Médicale (M.K., M.C., M.B.), Hôpital Timone Enfants; Aix Marseille Université (M.K., M.C., M.B.), Inserm, GMGF, UMR_S910; Hospices Civils de Lyon (P.P.), Hôpital la Croix-Rousse, Département de Neurologie, Université Claude Bernard Lyon 1; CHU Besançon (F.M.), Hôpital Jean Minjoz, Centre de Référence de Pathologie Neuromusculaire; Unité de morphologie neuromusculaire (E.M., N.R.), Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Université Paris 06; Assistance Publique-Hôpitaux de Paris (APHP) (R.Y.C.), Service d'imagerie Médicale, CIC-IT Handicap, Hôpital Raymond Poincaré, Garches, France; and Department of Clinical Genetics (M.D.), Rigshospitalet, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1212/NXG.0000000000000208	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306	PMC

December 2017

The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Authors:

Gisèle Bonne François Rivier Dalil Hamroun

Neuromuscul Disord 2017 12 23;27(12):1152-1183. Epub 2017 Nov 23.

CHRU de Montpellier, Direction de la Recherche et de l'Innovation, Hôpital La Colombière, 39 Avenue Charles Flahault, Montpellier 34295, France.

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http://dx.doi.org/10.1016/j.nmd.2017.10.005	DOI Listing

December 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

Authors:

Mathieu Cerino Svetlana Gorokhova Pascal Laforet Rabah Ben Yaou Emmanuelle Salort-Campana Jean Pouget Shahram Attarian Bruno Eymard Jean-François Deleuze Anne Boland Anthony Behin Tanya Stojkovic Gisele Bonne Nicolas Levy Marc Bartoli Martin Krahn

Muscle Nerve 2017 Nov 7;56(5):993-997. Epub 2017 Apr 7.

Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.

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http://dx.doi.org/10.1002/mus.25638	DOI Listing

November 2017

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

Authors:

Felice Heller Ivana Dabaj Jean K Mah Jean Bergounioux Aben Essid Carsten G Bönnemann Anne Rutkowski Gisèle Bonne Susana Quijano-Roy Karim Wahbi

Cardiol Young 2017 Aug 12;27(6):1076-1082. Epub 2016 Dec 12.

6Sorbonne Universités,UPMC Univ Paris 06,Inserm UMRS974,CNRS FRE3617,Center for Research in Myology,Paris,France.

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https://www.cambridge.org/core/product/identifier/S104795111	Publisher Site
http://dx.doi.org/10.1017/S1047951116002079	DOI Listing

August 2017

Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.

Authors:

Christine Schwartz Martina Fischer Kamel Mamchaoui Anne Bigot Thevy Lok Claude Verdier Alain Duperray Richard Michel Ian Holt Thomas Voit Suzanna Quijano-Roy Gisèle Bonne Catherine Coirault

Sci Rep 2017 04 28;7(1):1253. Epub 2017 Apr 28.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Centre for Research in Myology, Paris, France.

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http://dx.doi.org/10.1038/s41598-017-01324-z	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5430732	PMC

April 2017

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

Authors:

Caroline Le Dour Coline Macquart Fusako Sera Shunichi Homma Gisele Bonne John P Morrow Howard J Worman Antoine Muchir

Hum Mol Genet 2017 01;26(2):333-343

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1093/hmg/ddw389	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075603	PMC

January 2017

[The French Society of Myology shows some heart].

Authors:

Gisèle Bonne Guilhem Solé

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2. Epub 2016 Nov 21.

Organisateur des JSFM 2016.

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http://dx.doi.org/10.1051/medsci/201632s201	DOI Listing

November 2016

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.

Authors:

Esma Ziat Kamel Mamchaoui Maud Beuvin Isabelle Nelson Feriel Azibani Simone Spuler Gisèle Bonne Anne T Bertrand

J Neuromuscul Dis 2016 11;3(4):497-510

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, F-75013 Paris, France.

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http://dx.doi.org/10.3233/JND-160169	DOI Listing

November 2016

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

Am J Hum Genet 2016 09 25;99(3):753-761. Epub 2016 Aug 25.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30271-3.pdf	Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971630271	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2016.06.033	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011057	PMC

September 2016

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

Authors:

David Gómez-Andrés Ivana Dabaj Dominique Mompoint Karolina Hankiewicz Viviane Azzi Christine Ioos Norma B Romero Rabah Ben Yaou Jean Bergounioux Giséle Bonne Pascale Richard Brigitte Estournet Robert Yves-Carlier Susana Quijano-Roy

Muscle Nerve 2016 08 22;54(2):192-202. Epub 2016 Feb 22.

Assistance Publique des Hôpitaux de Paris, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Université de Versailles-St Quentin, U1179 UVSQ-INSERM, France.

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http://dx.doi.org/10.1002/mus.25018	DOI Listing

August 2016

Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse.

Authors:

Marie-Elodie Cattin Arnaud Ferry Alban Vignaud Nathalie Mougenot Adeline Jacquet Karim Wahbi Anne T Bertrand Gisèle Bonne

Neuromuscul Disord 2016 08 26;26(8):490-9. Epub 2016 May 26.

UPMC Univ Paris 06, INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology, Sorbonne Universités, Paris F-75013, France.

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http://dx.doi.org/10.1016/j.nmd.2016.05.010	DOI Listing

August 2016

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

Authors:

Elena Gargaun Andreea Mihaela Seferian Ruxandra Cardas Anne-Gaelle Le Moing Catherine Delanoe Juliette Nectoux Isabelle Nelson Gisèle Bonne Marie-Thérèse Bihoreau Jean-François Deleuze Anne Boland Cécile Masson Laurent Servais Teresa Gidaro

J Neurol 2016 Jul 9;263(7):1456-8. Epub 2016 May 9.

I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France.

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http://dx.doi.org/10.1007/s00415-016-8153-9	DOI Listing

July 2016

ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene.

Authors:

Maria Chatzifrangkeskou Caroline Le Dour Wei Wu John P Morrow Leroy C Joseph Maud Beuvin Fusako Sera Shunichi Homma Nicolas Vignier Nathalie Mougenot Gisèle Bonne Kenneth E Lipson Howard J Worman Antoine Muchir

Hum Mol Genet 2016 06 30;25(11):2220-2233. Epub 2016 Apr 30.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, G.H. Pitié Salpêtrière, 75651 Paris Cedex 13, France Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA

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http://dx.doi.org/10.1093/hmg/ddw090	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081054	PMC

June 2016

Laminopathies disrupt epigenomic developmental programs and cell fate.

Authors:

Jelena Perovanovic Stefania Dell'Orso Viola F Gnochi Jyoti K Jaiswal Vittorio Sartorelli Corinne Vigouroux Kamel Mamchaoui Vincent Mouly Gisèle Bonne Eric P Hoffman

Sci Transl Med 2016 04;8(335):335ra58

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA. Department of Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA.

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http://dx.doi.org/10.1126/scitranslmed.aad4991	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939618	PMC

April 2016

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

Neurology 2015 Dec 18;85(24):2126-35. Epub 2015 Nov 18.

From INSERM (R.D.C., C.R., K.C., I.R.), U951; Généthon (R.D.C., C.R., K.C., I.R.), R&D Department, INTEGRARE Research Unit, Evry; Neuromuscular Morphology Unit, Myology Institute (N.B.R., M.B.), and INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology (R.B.Y., F.L., N.B.R., E.M., M.B., I.N., G.B.), Sorbonne Universités, UPMC Univ Paris 06, and AP-HP, University Hospital, Reference Center for Neuromuscular Diseases, Myology Institute (R.B.Y., N.B.R., E.M., B.E.), Groupe Hospitalier La Pitié-Salpêtrière, Paris; Génopole Campus 2 (S.B., A.C.), PartnerChip, Evry; the Department of Medical Genetics (F.L., A.V., B.U.), Folkhälsan Institute of Genetics, University of Helsinki, Finland; AP-HP (J.N.), Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris; CEA-IG-Centre National de Genotypage (L.B.A., C.C., R.O.), Evry; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and the Department of Neurology (B.U.), Vaasa Central Hospital, Finland. R.D.C. is currently affiliated with Disease Genomics Group, Institut de Medicina Predictiva i Personalitzada del Càncer, Campus de Can Ruti, Camí de les Escoles, Badalona (Barcelona), Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002200	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685	PMC

December 2015

[Exceptional view of a new website…].

Authors:

Laurence Tiennot-Herment Gisèle Bonne

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:5-6. Epub 2015 Nov 6.

Présidente AFM-Téléthon

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http://dx.doi.org/10.1051/medsci/201531s301	DOI Listing

November 2015

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].

Authors:

Rabah Ben Yaou Annachiara De Sandre-Giovannoli France Leturcq Nicolas Lévy Gisèle Bonne

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:39-40. Epub 2015 Nov 6.

Sorbonne Universités, UPMC Université Paris 06, Inserm UMRS974, CNRS FRE3617, Centre de Recherche en Myologie, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1051/medsci/201531s311	DOI Listing

November 2015

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

Authors:

Isabelle Nelson Tanya Stojkovic Valérie Allamand France Leturcq Henri-Marc Bécane Dominique Babuty Annick Toutain Christophe Béroud Pascale Richard Norma B Romero Bruno Eymard Rabah Ben Yaou Gisèle Bonne

J Neuromuscul Dis 2015 Sep;2(3):229-240

Sorbonne Universités,UPMCUniv Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, F-75013 Paris, France.

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http://dx.doi.org/10.3233/JND-150093	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240538	PMC

September 2015

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Authors:

Florian Barthélémy Claire Navarro Racha Fayek Nathalie Da Silva Patrice Roll Sabine Sigaudy Junko Oshima Gisèle Bonne Kyriaki Papadopoulou-Legbelou Athanasios E Evangeliou Martha Spilioti Martine Lemerrer Ron A Wevers Eva Morava Andrée Robaglia-Schlupp Nicolas Lévy Marc Bartoli Annachiara De Sandre-Giovannoli

Eur J Hum Genet 2015 Aug 4;23(8):1051-61. Epub 2015 Feb 4.

1] Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France [2] Département de Génétique Médicale et de Biologie Cellulaire, AP-HM, Hôpital d'Enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2014.239	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795109	PMC

August 2015

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

Eur J Hum Genet 2015 Jul 29;23(7):929-34. Epub 2014 Oct 29.

1] CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France [2] Inserm U827, Université Montpellier 1, Laboratoire de Génétique de Maladies rares, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2014.223	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463509	PMC

July 2015

Nuclear envelope and striated muscle diseases.

Authors:

Maria Chatzifrangkeskou Gisèle Bonne Antoine Muchir

Curr Opin Cell Biol 2015 Feb 4;32:1-6. Epub 2014 Oct 4.

Sorbonne Universités, UPMC Univ Paris 06, Center of Research in Myology, UMRS 974, F-75013 Paris, France; INSERM U974, F-75013 Paris, France; CNRS FRE 3617, F-75013 Paris, France; Institut de Myologie, F-75013 Paris, France.

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http://dx.doi.org/10.1016/j.ceb.2014.09.007	DOI Listing

February 2015

Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients.

Mol Ther 2014 Nov 4;22(11):1923-35. Epub 2014 Aug 4.

Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre and Marie Curie Paris 6 UPMC-INSERM UMR 974, CNRS FRE 3617, Paris, France.

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http://dx.doi.org/10.1038/mt.2014.151	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429735	PMC

November 2014

Dystrophin quantification: Biological and translational research implications.

Neurology 2014 Nov 29;83(22):2062-9. Epub 2014 Oct 29.

From The Dubowitz Neuromuscular Centre (K.A., V.A.-G., S.T., L.F., N.J., C.A.S., J.E.M., F.M.), UCL, Institute of Child Health, London, UK; The Center for Gene Therapy (L.E.T., A.V., Y.K., K.M.F.), The Research Institute at Nationwide Children's Hospital, Columbus, OH; Institut de Myologie (G.B., M.B., T.V.), UPMC UM76, INSERM U 794, CNRS UMR 7215, Paris, France; Institute of Genetic Medicine (R.B., M.H., S.L., V.S.), Newcastle University, UK; and Prosensa Therapeutics (A.L., G.C.), Leiden, the Netherlands. V.A.-G. is currently affiliated with the Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000001025	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248450	PMC

November 2014

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Authors:

Imen Dorboz Marie Coutelier Anne T Bertrand Jean-Hubert Caberg Monique Elmaleh-Bergès Jeanne Lainé Giovanni Stevanin Gisèle Bonne Odile Boespflug-Tanguy Laurent Servais

Orphanet J Rare Dis 2014 Nov 26;9:174. Epub 2014 Nov 26.

Service de neurologie pédiatrique et des maladies métaboliques, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris, 75019, Paris, France.

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http://dx.doi.org/10.1186/s13023-014-0174-9	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302636	PMC

November 2014

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

Authors:

Anne T Bertrand Simindokht Ziaei Camille Ehret Hélène Duchemin Kamel Mamchaoui Anne Bigot Michèle Mayer Susana Quijano-Roy Isabelle Desguerre Jeanne Lainé Rabah Ben Yaou Gisèle Bonne Catherine Coirault

J Cell Sci 2014 Jul 7;127(Pt 13):2873-84. Epub 2014 May 7.

Institut National de la Santé et de la recherche Médicale, UMR_S 974, F-75013 Paris, France Sorbonne Universités, UPMC Univ Paris 06, F-75005 Paris, France CNRS, UMR 7215, F-75013 Paris, France Institut de Myologie, Paris F-75013, France

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http://jcs.biologists.org/cgi/doi/10.1242/jcs.144907	Publisher Site
http://dx.doi.org/10.1242/jcs.144907	DOI Listing

July 2014

Striated muscle laminopathies.

Authors:

Feriel Azibani Antoine Muchir Nicolas Vignier Gisèle Bonne Anne T Bertrand

Semin Cell Dev Biol 2014 May 15;29:107-15. Epub 2014 Jan 15.

Inserm, U974, Paris F-75013, France; Institut de Myologie, Paris F-75013, France. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2014.01.001	DOI Listing

May 2014

199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.

Authors:

Anne T Bertrand Carsten G Bönnemann Gisèle Bonne

Neuromuscul Disord 2014 May 14;24(5):453-62. Epub 2014 Feb 14.

Inserm, U974, Paris F-75013, France; Sorbonne Universités, UPMC Univ Paris 06, Myology Center of Research, UM76; CNRS FRE 3617, Institut de Myologie, Paris F-75013, France; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique Moléculaire, Service de Biochimie Métabolique, Paris F-75013, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.02.002	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210188	PMC

May 2014

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.

Authors:

Brendan R Wilding Meagan J McGrath Gisèle Bonne Christina A Mitchell

J Cell Sci 2014 May 14;127(Pt 10):2269-81. Epub 2014 Mar 14.

Department of Biochemistry & Molecular Biology, Faculty of Medicine, Nursing & Health Sciences, Monash University, Clayton, VIC 3800, Australia

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http://dx.doi.org/10.1242/jcs.140905	DOI Listing

May 2014

Nuclear envelope proteins in health and diseases.

Authors:

Gisèle Bonne

Semin Cell Dev Biol 2014 May 19;29:93-4. Epub 2014 Apr 19.

Sorbonne Universités, UPMC Univ Paris 06, INSERM U974, CNRS FRE 3617, Center of Research in Myology, Institut de Myologie, Paris F-75013, France; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris F-75013, France. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2014.04.023	DOI Listing

May 2014

Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization.

Authors:

Stéphane Vassilopoulos Christel Gentil Jeanne Lainé Pierre-Olivier Buclez Agathe Franck Arnaud Ferry Guillaume Précigout Robyn Roth John E Heuser Frances M Brodsky Luis Garcia Gisèle Bonne Thomas Voit France Piétri-Rouxel Marc Bitoun

J Cell Biol 2014 May 5;205(3):377-93. Epub 2014 May 5.

Institut National de la Santé et de la Recherche Médicale (INSERM) U974, 2 Centre National de la Recherche Scientifique (CNRS) UMR 7215, and 3 Université Pierre et Marie Curie-Paris 6, UM 76, Paris F-75013, France.

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http://www.jcb.org/lookup/doi/10.1083/jcb.201309096	Publisher Site
http://dx.doi.org/10.1083/jcb.201309096	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4018784	PMC

May 2014

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.

Authors:

Gisèle Bonne Susana Quijano-Roy

Handb Clin Neurol 2013 ;113:1367-76

Inserm, U974; Université Pierre et Marie Curie - Paris 6, UM 76; CNRS, UMR 7215; Institut de Myologie, and AP-HP - U.F. Cardiogénétique et Myogénétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00007-1	DOI Listing

March 2014

Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.

Authors:

Guillaume Coutance Fabien Labombarda Emmanuelle Cauderlier Annette Belin Pascale Richard Gisèle Bonne Françoise Chapon

Congenit Heart Dis 2013 Jul-Aug;8(4):E127-9. Epub 2012 Aug 7.

Department of Cardiology, University Teaching Hospital of Caen, Caen, France.

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http://dx.doi.org/10.1111/j.1747-0803.2012.00695.x	DOI Listing

February 2014

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

J Neuropathol Exp Neurol 2013 Sep;72(9):833-45

Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.

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http://jnen.oxfordjournals.org/content/jnen/72/9/833.full.pd	Web Search
http://jnen.oxfordjournals.org/cgi/doi/10.1097/NEN.0b013e318	Publisher Site
http://dx.doi.org/10.1097/NEN.0b013e3182a23506	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210222	PMC

September 2013

Distinctive serum miRNA profile in mouse models of striated muscular pathologies.

Authors:

Nicolas Vignier Fatima Amor Paul Fogel Angélique Duvallet Jérôme Poupiot Sabine Charrier Michel Arock Marie Montus Isabelle Nelson Isabelle Richard Lucie Carrier Laurent Servais Thomas Voit Gisèle Bonne David Israeli

PLoS One 2013 13;8(2):e55281. Epub 2013 Feb 13.

Inserm, UMRS_974, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0055281	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572119	PMC

August 2013

Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.

Authors:

Marie-Elodie Cattin Anne T Bertrand Saskia Schlossarek Marie-Catherine Le Bihan Søren Skov Jensen Christiane Neuber Claudia Crocini Sophia Maron Jeanne Lainé Nathalie Mougenot Shaïda Varnous Yves Fromes Arne Hansen Thomas Eschenhagen Valérie Decostre Lucie Carrier Gisèle Bonne

Hum Mol Genet 2013 Aug 10;22(15):3152-64. Epub 2013 Apr 10.

Inserm, U974, Paris F-75013, France.

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http://dx.doi.org/10.1093/hmg/ddt172	DOI Listing

August 2013

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.

Cardiovasc Res 2013 Aug 30;99(3):382-94. Epub 2013 Apr 30.

Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, 1-5-45 Bunkyo-Ku, Tokyo 113-8510, Japan.

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http://dx.doi.org/10.1093/cvr/cvt106	DOI Listing

August 2013

Role of dynamin 2 in the disassembly of focal adhesions.

Authors:

Laura Briñas Stéphane Vassilopoulos Gisèle Bonne Pascale Guicheney Marc Bitoun

J Mol Med (Berl) 2013 Jul 23;91(7):803-9. Epub 2013 Apr 23.

Université Pierre et Marie Curie-Paris 6, UM76, Paris 75013, France.

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http://dx.doi.org/10.1007/s00109-013-1040-2	DOI Listing

July 2013

Myoblasts and embryonic stem cells differentially engraft in a mouse model of genetic dilated cardiomyopathy.

Authors:

Cyril Catelain Stéphanie Riveron Aurélie Papadopoulos Nathalie Mougenot Adeline Jacquet Karine Vauchez Erica Yada Michel Pucéat Marc Fiszman Gillian Butler-Browne Gisèle Bonne Jean-Thomas Vilquin

Mol Ther 2013 May 26;21(5):1064-75. Epub 2013 Feb 26.

UPMC UM 76, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/mt.2013.15	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666625	PMC

May 2013

'State-of-the-heart' of cardiac laminopathies.

Authors:

Marie-Elodie Cattin Antoine Muchir Gisèle Bonne

Curr Opin Cardiol 2013 May;28(3):297-304

Inserm, U974, Université Pierre et Marie Curie-Paris 6, UM 76, CNRS, UMR 7215, Institut de Myologie, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris, France.

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http://dx.doi.org/10.1097/HCO.0b013e32835f0c79	DOI Listing

May 2013

The muscle dystrophy-causing ΔK32 lamin A/C mutant does not impair the functions of the nucleoplasmic lamin-A/C-LAP2α complex in mice.

Authors:

Ursula Pilat Thomas Dechat Anne T Bertrand Nikola Woisetschläger Ivana Gotic Rita Spilka Katarzyna Biadasiewicz Gisèle Bonne Roland Foisner

J Cell Sci 2013 Apr 26;126(Pt 8):1753-62. Epub 2013 Feb 26.

Max F. Perutz Laboratories, Department of Medical Biochemistry, Medical University of Vienna, Dr. Bohr-Gasse 9, A-1030 Vienna, Austria.

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http://dx.doi.org/10.1242/jcs.115246	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333763	PMC

April 2013

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

Authors:

Felix W Friedrich Gilles Dilanian Patricia Khattar Denise Juhr Lucie Gueneau Philippe Charron Véronique Fressart Jean-Thomas Vilquin Richard Isnard Laurent Gouya Pascale Richard Naima Hammoudi Michel Komajda Gisèle Bonne Thomas Eschenhagen Olivier Dubourg Eric Villard Lucie Carrier

Eur J Heart Fail 2013 Mar 14;15(3):267-76. Epub 2012 Nov 14.

Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1093/eurjhf/hfs178	DOI Listing

March 2013

Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo.

Authors:

Émilie Boudreau Sarah Labib Anne T Bertrand Valérie Decostre Pierrette M Bolongo Nicolas Sylvius Gisèle Bonne Frédérique Tesson

PLoS One 2012 21;7(9):e45918. Epub 2012 Sep 21.

Interdisciplinary School of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045918	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448699	PMC

February 2013

Complex interactions between human myoblasts and the surrounding 3D fibrin-based matrix.

Authors:

Stéphane Chiron Carole Tomczak Alain Duperray Jeanne Lainé Gisèle Bonne Alexandra Eder Arne Hansen Thomas Eschenhagen Claude Verdier Catherine Coirault

PLoS One 2012 27;7(4):e36173. Epub 2012 Apr 27.

Inserm, U974, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0036173	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338613	PMC

September 2012

What Should the Cardiologist know about Lamin Disease?

Authors:

Philippe Charron Eloisa Arbustini Gisèle Bonne

Arrhythm Electrophysiol Rev 2012 Sep;1(1):22-8

INSERM U974; UPMC Université Paris 6; CNRS UMR 7215; Institut de Myologie, Paris, France; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris, France.

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http://dx.doi.org/10.15420/aer.2012.1.1.22	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711561	PMC

September 2012

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.

Hum Mol Genet 2012 Jul 20;21(14):3237-54. Epub 2012 Apr 20.

Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1093/hmg/dds157	DOI Listing

July 2012

A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.

Authors:

Anne-Cécile Durieux Stéphane Vassilopoulos Jeanne Lainé Bodvaël Fraysse Laura Briñas Bernard Prudhon Josiane Castells Damien Freyssenet Gisèle Bonne Pascale Guicheney Marc Bitoun

Traffic 2012 Jun 3;13(6):869-79. Epub 2012 Apr 3.

UM76, Université Pierre et Marie Curie-Paris 6, Paris, F-75013, France.

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http://dx.doi.org/10.1111/j.1600-0854.2012.01348.x	DOI Listing

June 2012

Guiding the molecular diagnosis of hypertrophic cardiomyopathy.

Authors:

Christian Geier Eric Schulze-Bahr Gisèle Bonne

J Thorac Cardiovasc Surg 2012 May;143(5):1234

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http://dx.doi.org/10.1016/j.jtcvs.2012.01.062	DOI Listing

May 2012

Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.

Authors:

Christophe Meune Lara Khouzami Karim Wahbi Philippe Caramelle Valérie Decostre Gisèle Bonne Françoise Pecker

Neuromuscul Disord 2012 Mar 8;22(3):252-7. Epub 2011 Nov 8.

Université Paris Descartes, AP-HP, Département de Cardiologie, Groupe Hospitalier Cochin, F-75014, France.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661101343	Publisher Site
http://dx.doi.org/10.1016/j.nmd.2011.09.005	DOI Listing

March 2012

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

Authors:

Anne T Bertrand Laure Renou Aurélie Papadopoulos Maud Beuvin Emmanuelle Lacène Catherine Massart Chris Ottolenghi Valérie Decostre Sophia Maron Saskia Schlossarek Marie-Elodie Cattin Lucie Carrier Marie Malissen Takuro Arimura Gisèle Bonne

Hum Mol Genet 2012 Mar 16;21(5):1037-48. Epub 2011 Nov 16.

Inserm, UMRS_974, Paris F-75013, France.

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http://dx.doi.org/10.1093/hmg/ddr534	DOI Listing

March 2012

Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene.

Authors:

Antoine Muchir Sarah A Reilly Wei Wu Shinichi Iwata Shunichi Homma Gisèle Bonne Howard J Worman

Cardiovasc Res 2012 Feb 8;93(2):311-9. Epub 2011 Nov 8.

Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10th Floor, Room 508, New York, NY 10032, USA.

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http://dx.doi.org/10.1093/cvr/cvr301	DOI Listing

February 2012

[Laminopathies: one gene, several diseases].

Authors:

Anne T Bertrand Khadija Chikhaoui Rabah Ben Yaou Gisèle Bonne

Biol Aujourdhui 2011 11;205(3):147-62. Epub 2011 Oct 11.

UPMC Université Paris VI, IFR14, 75013 Paris, France.

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http://dx.doi.org/10.1051/jbio/2011017	DOI Listing

January 2012

Clinical and genetic heterogeneity in laminopathies.

Authors:

Anne T Bertrand Khadija Chikhaoui Rabah Ben Yaou Gisèle Bonne

Biochem Soc Trans 2011 Dec;39(6):1687-92

Inserm, U974, Paris, France.

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http://dx.doi.org/10.1042/BST20110670	DOI Listing

December 2011

MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy.

Authors:

Nicolas Sylvius Gisèle Bonne Kees Straatman Thimma Reddy Timothy W Gant Sue Shackleton

FASEB J 2011 Nov 12;25(11):3966-78. Epub 2011 Aug 12.

Department of Biochemistry, University of Leicester, Leicester, UK.

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http://dx.doi.org/10.1096/fj.11-182915	DOI Listing

November 2011

Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.

Authors:

Luis Redondo-Vergé Rabah Ben Yaou María Fernández-Recio Luminita Dinca Pascale Richard Gisèle Bonne

Muscle Nerve 2011 Oct;44(4):587-9

Department of Neurology, Hospital Virgen Macarena, Avenida Dr. Fedriani 3, 41071 Sevilla, Spain.

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http://doi.wiley.com/10.1002/mus.22179	Publisher Site
http://dx.doi.org/10.1002/mus.22179	DOI Listing

October 2011

N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations.

Authors:

Christophe Meune Karim Wahbi Camille Gobeaux Denis Duboc Françoise Pecker Gisèle Bonne

Int J Cardiol 2011 Sep 23;151(2):160-3. Epub 2010 Jul 23.

Université Paris Descartes, Département de Cardiologie, Hôpital Cochin, AP-HP, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S016752731000370	Publisher Site
http://dx.doi.org/10.1016/j.ijcard.2010.05.005	DOI Listing

September 2011

ColVI myopathies: where do we stand, where do we go?

Authors:

Valérie Allamand Laura Briñas Pascale Richard Tanya Stojkovic Susana Quijano-Roy Gisèle Bonne

Skelet Muscle 2011 Sep 23;1:30. Epub 2011 Sep 23.

Inserm, U974, Paris, France.

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http://dx.doi.org/10.1186/2044-5040-1-30	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189202	PMC

September 2011

Distinction between two populations of islet-1-positive cells in hearts of different murine strains.

Authors:

Patricia Khattar Felix W Friedrich Gisèle Bonne Lucie Carrier Thomas Eschenhagen Sylvia M Evans Ketty Schwartz Marc Y Fiszman Jean-Thomas Vilquin

Stem Cells Dev 2011 06 29;20(6):1043-52. Epub 2010 Nov 29.

UPMC/AIM UMR S 974, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1089/scd.2010.0374	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880329	PMC

June 2011

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Authors:

Rabah Ben Yaou Claire Navarro Susana Quijano-Roy Anne T Bertrand Catherine Massart Annachiara De Sandre-Giovannoli Juan Cadiñanos Kamel Mamchaoui Gillian Butler-Browne Brigitte Estournet Pascale Richard Annie Barois Nicolas Lévy Gisèle Bonne

Eur J Hum Genet 2011 Jun 26;19(6):647-54. Epub 2011 Jan 26.

Inserm, UMRS_974, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2010.256	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110044	PMC

June 2011

Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene.

Authors:

Wei Wu Antoine Muchir Jian Shan Gisèle Bonne Howard J Worman

Circulation 2011 Jan 20;123(1):53-61. Epub 2010 Dec 20.

Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10th Floor, Room 518, New York, NY 10032, USA.

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https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.110.9	Publisher Site
http://dx.doi.org/10.1161/CIRCULATIONAHA.110.970673	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061281	PMC

January 2011

Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene.

Authors:

Wei Wu Jian Shan Gisèle Bonne Howard J Worman Antoine Muchir

Biochim Biophys Acta 2010 Jul-Aug;1802(7-8):632-8. Epub 2010 Apr 11.

Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S092544391000074	Publisher Site
http://dx.doi.org/10.1016/j.bbadis.2010.04.001	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893287	PMC

August 2010

Upregulation of PPARbeta/delta is associated with structural and functional changes in the type I diabetes rat diaphragm.

Authors:

Nadège Salvi Aziz Guellich Pierre Michelet Alexandre Demoule Morgan Le Guen Laure Renou Gisèle Bonne Bruno Riou Olivier Langeron Catherine Coirault

PLoS One 2010 Jul 8;5(7):e11494. Epub 2010 Jul 8.

UMRS INSERM 956, Institut de Myologie, IFR14, Université Pierre et Marie Curie-Paris 6, and Department of Emergency Medicine and Surgery, Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôptiaux de Paris, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0011494	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900215	PMC

July 2010

Improvement of left ventricular dysfunction and of survival prognosis of dilated cardiomyopathy by administration of calcium sensitizer SCH00013 in a mouse model.

Authors:

Takuro Arimura Rika Sato Noboru Machida Hidenori Bando Dong-Yun Zhan Sachio Morimoto Ryo Tanaka Yoshihisa Yamane Gisèle Bonne Akinori Kimura

J Am Coll Cardiol 2010 Apr;55(14):1503-5

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https://linkinghub.elsevier.com/retrieve/pii/S07351097100036	Publisher Site
http://dx.doi.org/10.1016/j.jacc.2009.10.065	DOI Listing

April 2010

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

Authors:

Hans Knoblauch Christian Geier Stephanie Adams Birgit Budde André Rudolph Ute Zacharias Jeannette Schulz-Menger Andreas Spuler Rabah Ben Yaou Peter Nürnberg Thomas Voit Gisele Bonne Simone Spuler

Ann Neurol 2010 Jan;67(1):136-40

Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medicine Berlin, Germany.

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http://dx.doi.org/10.1002/ana.21839	DOI Listing

January 2010

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Am J Hum Genet 2009 Sep 27;85(3):338-53. Epub 2009 Aug 27.

INSERM, U974, Paris, France.

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http://dx.doi.org/10.1016/j.ajhg.2009.07.015	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771595	PMC

September 2009

Autophagic degradation of nuclear components in mammalian cells.

Authors:

Young-Eun Park Yukiko K Hayashi Gisèle Bonne Takuro Arimura Satoru Noguchi Ikuya Nonaka Ichizo Nishino

Autophagy 2009 Aug 30;5(6):795-804. Epub 2009 Aug 30.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.4161/auto.8901	DOI Listing

August 2009

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.

Authors:

Antoine Muchir Jian Shan Gisèle Bonne Stephan E Lehnart Howard J Worman

Hum Mol Genet 2009 Jan 16;18(2):241-7. Epub 2008 Oct 16.

Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1093/hmg/ddn343	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638780	PMC

January 2009

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

Authors:

Samira Makri Nigel F Clarke Pascale Richard Svetlana Maugenre Laurence Demay Gisèle Bonne Pascale Guicheney

Neuromuscul Disord 2009 Jan 11;19(1):26-8. Epub 2008 Dec 11.

Etablissement Hospitalier Spécialisé Ali Ait Idir, Alger, Algeria.

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http://dx.doi.org/10.1016/j.nmd.2008.09.016	DOI Listing

January 2009

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

Authors:

Alexandre Méjat Valérie Decostre Juan Li Laure Renou Akanchha Kesari Daniel Hantaï Colin L Stewart Xiao Xiao Eric Hoffman Gisèle Bonne Tom Misteli

J Cell Biol 2009 Jan 5;184(1):31-44. Epub 2009 Jan 5.

National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1083/jcb.200811035	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615092	PMC

January 2009

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417	DOI Listing

August 2008

Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy.

Authors:

Antoine Muchir Paul Pavlidis Gisèle Bonne Yukiko K Hayashi Howard J Worman

Hum Mol Genet 2007 Aug 13;16(15):1884-95. Epub 2007 Jun 13.

Department of Medicine, College of Physicians and Surgeons, Columbia University, New York 10032, USA.

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http://dx.doi.org/10.1093/hmg/ddm137	DOI Listing

August 2007

141st ENMC International Workshop inaugural meeting of the EURO-Laminopathies project "Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications", 10-12 March 2006, Naarden, The Netherlands.

Authors:

Roland Foisner Ueli Aebi Gisèle Bonne Yosef Gruenbaum Giuseppe Novelli

Neuromuscul Disord 2007 Aug 22;17(8):655-60. Epub 2007 Jun 22.

Max F. Perutz Laboratories, Medical University of Vienna, Dr. Bohr-Gasse 9, A-1030 Vienna, Austria.

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http://dx.doi.org/10.1016/j.nmd.2007.04.003	DOI Listing

August 2007

"Laminopathies": a wide spectrum of human diseases.

Authors:

Howard J Worman Gisèle Bonne

Exp Cell Res 2007 Jun 30;313(10):2121-33. Epub 2007 Mar 30.

Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.yexcr.2007.03.028	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964355	PMC

June 2007

Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy.

Authors:

Takuro Arimura Takeharu Hayashi Yuji Matsumoto Hiroki Shibata Shitoshi Hiroi Takeyuki Nakamura Natsuko Inagaki Kunihiko Hinohara Megumi Takahashi Satoh-Itoh Manatsu Taishi Sasaoka Toru Izumi Gisèle Bonne Ketty Schwartz Akinori Kimura

Biochem Biophys Res Commun 2007 May 30;357(1):162-7. Epub 2007 Mar 30.

Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 101-0062, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2007.03.128	DOI Listing

May 2007

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.

Authors:

Antoine Muchir Paul Pavlidis Valérie Decostre Alan J Herron Takuro Arimura Gisèle Bonne Howard J Worman

J Clin Invest 2007 May 19;117(5):1282-93. Epub 2007 Apr 19.

Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street. New York, NY 10032, USA.

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http://dx.doi.org/10.1172/JCI29042	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1849984	PMC

May 2007

Gisele Bonne

Gisele Bonne

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