Gisele Bonne

Gisele Bonne

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Gisele Bonne

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

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.2019.100664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630059PMC
September 2019

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

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.13394DOI Listing
September 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.118.039410DOI 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.0000000000000321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641PMC
April 2019

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

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
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http://dx.doi.org/10.1038/s41431-018-0250-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460556PMC
March 2019

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

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/ETLS20180100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436731PMC
March 2019

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

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
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http://dx.doi.org/10.1002/mus.26312DOI Listing
December 2018

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

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.2018.09.006DOI Listing
December 2018

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

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/ddy278DOI Listing
November 2018

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

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/201834s201DOI Listing
November 2018

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

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
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http://dx.doi.org/10.1051/medsci/201834s206DOI Listing
November 2018

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

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/ddy243DOI Listing
October 2018

The Pathogenesis and Therapies of Striated Muscle Laminopathies.

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
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http://dx.doi.org/10.3389/fphys.2018.01533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218675PMC
October 2018

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

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.2018.03.009DOI Listing
July 2018

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

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/ddy227DOI Listing
June 2018

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

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-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884786PMC
April 2018

Lamin and the heart.

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-2017-312338DOI Listing
March 2018

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

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.2017.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862133PMC
March 2018

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.0000000000000208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306PMC
December 2017

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

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.2017.10.005DOI Listing
December 2017

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

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.25638DOI Listing
November 2017

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

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
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http://dx.doi.org/10.1017/S1047951116002079DOI Listing
August 2017

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

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/ddw389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075603PMC
January 2017

[The French Society of Myology shows some heart].

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/201632s201DOI Listing
November 2016

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

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-160169DOI Listing
November 2016

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

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.25018DOI 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.

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.2016.05.010DOI Listing
August 2016

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

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/ddw090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081054PMC
June 2016

Laminopathies disrupt epigenomic developmental programs and cell fate.

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.aad4991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939618PMC
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.0000000000002200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685PMC
December 2015

[Exceptional view of a new website…].

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/201531s301DOI Listing
November 2015

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

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/201531s311DOI Listing
November 2015

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

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.2014.239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795109PMC
August 2015

Nuclear envelope and striated muscle diseases.

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.2014.09.007DOI Listing
February 2015

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.0000000000001025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248450PMC
November 2014

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

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/s13023-014-0174-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302636PMC
November 2014

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

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
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http://dx.doi.org/10.1242/jcs.144907DOI Listing
July 2014

Striated muscle laminopathies.

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.2014.01.001DOI Listing
May 2014

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

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.2014.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210188PMC
May 2014

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

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.140905DOI 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.2014.04.023DOI Listing
May 2014

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

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
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http://dx.doi.org/10.1083/jcb.201309096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4018784PMC
May 2014

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

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/B978-0-444-59565-2.00007-1DOI Listing
March 2014

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

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.xDOI Listing
February 2014

Role of dynamin 2 in the disassembly of focal adhesions.

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/s00109-013-1040-2DOI Listing
July 2013

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

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.0b013e32835f0c79DOI 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.

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.115246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333763PMC
April 2013

What Should the Cardiologist know about Lamin Disease?

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.2012.1.1.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711561PMC
September 2012

Guiding the molecular diagnosis of hypertrophic cardiomyopathy.

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

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http://dx.doi.org/10.1016/j.jtcvs.2012.01.062DOI Listing
May 2012

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

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
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http://dx.doi.org/10.1016/j.nmd.2011.09.005DOI Listing
March 2012

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

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/cvr301DOI Listing
February 2012

[Laminopathies: one gene, several diseases].

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/2011017DOI Listing
January 2012

Clinical and genetic heterogeneity in laminopathies.

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

Inserm, U974, Paris, France.

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http://dx.doi.org/10.1042/BST20110670DOI Listing
December 2011

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

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.11-182915DOI Listing
November 2011

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

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
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October 2011

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

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
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http://dx.doi.org/10.1016/j.ijcard.2010.05.005DOI Listing
September 2011

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

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
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http://dx.doi.org/10.1161/CIRCULATIONAHA.110.970673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061281PMC
January 2011

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

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://dx.doi.org/10.1016/j.bbadis.2010.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893287PMC
August 2010

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

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.0011494PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900215PMC
July 2010

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

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.21839DOI Listing
January 2010

Autophagic degradation of nuclear components in mammalian cells.

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.8901DOI Listing
August 2009

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

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/ddn343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638780PMC
January 2009

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

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.2008.09.016DOI Listing
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.21417DOI 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.

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/ddm137DOI Listing
August 2007

"Laminopathies": a wide spectrum of human diseases.

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.2007.03.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964355PMC
June 2007

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

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.2007.03.128DOI Listing
May 2007

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

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/JCI29042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1849984PMC
May 2007