Bruno Eymard

Bruno Eymard

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Bruno Eymard

Bruno Eymard

Publications by authors named "Bruno Eymard"

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Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.

Muscle Nerve 2020 Jan 16. Epub 2020 Jan 16.

Department of Neurophysiology, CHU Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1002/mus.26809DOI Listing
January 2020

A high prevalence of arterial hypertension in patients with mitochondrial diseases.

J Inherit Metab Dis 2019 Nov 24. Epub 2019 Nov 24.

Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris, France.

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http://dx.doi.org/10.1002/jimd.12195DOI Listing
November 2019

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.

J Inherit Metab Dis 2019 Oct 25. Epub 2019 Oct 25.

APHP, Raymond-Poincaré Teaching Hospital, Neurology department, Nord/Est/Ile de France Neuromuscular Reference Center, Garches, France.

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http://dx.doi.org/10.1002/jimd.12185DOI Listing
October 2019

Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging.

Eur Heart J Cardiovasc Imaging 2019 Aug;20(8):906-915

Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Institute of Myology, Assistance Publique des Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard Vincent Auriol, Paris, France.

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http://dx.doi.org/10.1093/ehjci/jey209DOI Listing
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.118.039410DOI Listing
July 2019

FSHD1 and FSHD2 form a disease continuum.

Neurology 2019 05 12;92(19):e2273-e2285. Epub 2019 Apr 12.

From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537132PMC
May 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

[Congenital myasthenic syndromes: repurposing does not simplify access de facto - Clinical use of innovative, repurposed or off-label therapies: a real life experience (4)].

Authors:
Bruno Eymard

Med Sci (Paris) 2019 Mar 3;35 Hors série n° 1:28-31. Epub 2019 Apr 3.

Coordonnateur du Centre de référence des maladies neuromusculaires adulte Nord-Est-Île-de-France, Responsable de l'Unité Fonctionnelle de Pathologie Neuromusculaire Groupe hospitalier universitaire Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019022DOI Listing
March 2019

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Neurol Neuroimmunol Neuroinflamm 2019 01 12;6(1):e523. Epub 2018 Dec 12.

National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.

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http://dx.doi.org/10.1212/NXI.0000000000000523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292490PMC
January 2019

Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients.

Neuromuscul Disord 2018 12 27;28(12):996-1002. Epub 2018 Sep 27.

Hôpital Rothschild, Service de Reeducation Neuro-orthopédique, 5 Rue Santerre 75012 Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2018.09.007DOI Listing
December 2018

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis.

J Neuromuscul Dis 2018 ;5(2):241-249

AP-HP, Hôpital Pitié-Salpêtrière, Department of Internal Medicine and ClinicalImmunology, Inflammation-Immunopathology-Biotherapy Department (I2B), East Paris Neuromuscular Diseases Reference Center, Inserm U974, Sorbonne Université, Paris 6, Paris, France.

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http://dx.doi.org/10.3233/JND-180300DOI Listing
November 2018

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Orphanet J Rare Dis 2018 11 26;13(1):211. Epub 2018 Nov 26.

Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.

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http://dx.doi.org/10.1186/s13023-018-0955-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260762PMC
November 2018

Marathons and myasthenia gravis: a case report.

BMC Neurol 2018 Sep 18;18(1):145. Epub 2018 Sep 18.

Institute of Myology, GH Pitié-Salpêtrière (AP-HP), Bd de l'Hôpital, 75651, Paris Cedex 13, France.

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http://dx.doi.org/10.1186/s12883-018-1150-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142625PMC
September 2018

High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy.

Circulation 2018 09;138(11):1169-1171

Assistance Publique des Hôpitaux de Paris, Cochin Hospital, Cardiology Department, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University, France (M.S., D.D., K.W.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.035035DOI Listing
September 2018

Genotype and other determinants of respiratory function in myotonic dystrophy type 1.

Neuromuscul Disord 2018 03 26;28(3):222-228. Epub 2017 Dec 26.

Association Française contre les Myopathies - Téléthon, Evry, France; Université de Versailles Saint Quentin en Yvelines, INSERM U1179, France; Service d'Explorations Fonctionnelles Respiratoires, AP-HP, Hôpital Raymond Poincaré, Garches, France.

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http://dx.doi.org/10.1016/j.nmd.2017.12.011DOI Listing
March 2018

Necrosis in anti-SRP and anti-HMGCRmyopathies: Role of autoantibodies and complement.

Neurology 2018 02 12;90(6):e507-e517. Epub 2018 Jan 12.

From the Departments of Neuropathology (Y.A., C.P., H.R., H.-H.G., W.S.) and Pathology (P.H., N.Z.), Charité-Universitätsmedizin, Berlin, Germany; Internal Medicine Department (Y.A., N.C., K.M., A.R., O. Benveniste), Reference for Neuro-muscular Diseases, Paris Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris; Myology Research Center (Y.A., L.A.-D., G.B.-B., D.A., O. Benveniste), Sorbonne Universités UPMC Univ Paris 06, INSERM UMRS974, Pitié-Salpêtrière University Hospital; Department of Neuropathology (T.M., S.L.-L., C.D.) and Institut de Myologie (B.E.), Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris; and Department of Immunology (C.B., L.D., O. Boyer), UNIROUEN, INSERM, U1234, Normandie University, Rouen University Hospital, France.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004923DOI Listing
February 2018

Hearing impairment in patients with myotonic dystrophy type 2.

Neurology 2018 02 17;90(7):e615-e622. Epub 2018 Jan 17.

From the Departments of Neurology (J.v.V., J.M., W.I.M.V.) and Otolaryngology (J.A.M.E.), Canisius Wilhelmina Hospital; Neuromuscular Center Nijmegen, Department of Neurology (J.v.V., A.A.T., B.G.M.v.E.), Radboud University Medical Center, Nijmegen, the Netherlands; Histopathology Department (G.B.), AP-HP, GH Henri Mondor; and Neuromuscular Disorders Department, Myology Institute (L.S., A.B., T.S., B.E.), and Otolaryngology Department (G.L., E.M.), AP-HP, GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000004963DOI Listing
February 2018

The role of electrodiagnosis with long exercise test in mcardle disease.

Muscle Nerve 2018 Jan 19. Epub 2018 Jan 19.

Department of Clinical Neurophysiology, APHP-GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1002/mus.26074DOI Listing
January 2018

The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version.

Muscle Nerve 2017 Dec 21;56(6):1085-1091. Epub 2017 Mar 21.

Centre Hospitalier Universitaire de Reims, Hôpital Sébastopol, Service de Médecine Physique et Réadaptation, Centre de Référence des Maladies Neuromusculaires, EA 3797, 48, rue de Sébastopol, 51092, Reims Cedex, France.

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http://dx.doi.org/10.1002/mus.25598DOI Listing
December 2017

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Muscle Nerve 2017 Dec 10;56(6):1096-1100. Epub 2017 Apr 10.

APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.

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http://doi.wiley.com/10.1002/mus.25608
Publisher Site
http://dx.doi.org/10.1002/mus.25608DOI 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.0000000000000208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306PMC
December 2017

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.

Ann Clin Transl Neurol 2017 12 7;4(12):921-925. Epub 2017 Nov 7.

Institut de Myologie GH Pitié-Salpêtrière Paris France.

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http://dx.doi.org/10.1002/acn3.496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740258PMC
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

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

J Clin Pathol 2017 Oct 11;70(10):896-898. Epub 2017 Apr 11.

Paris-Est Neuromuscular Center, Institute of Myology, Pitié-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1136/jclinpath-2017-204324DOI Listing
October 2017

Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

J Neurol 2017 Sep 12;264(9):1854-1863. Epub 2017 Jun 12.

Fondazione IRCCS Istituto Neurologico, Via Giovanni Celoria, 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-017-8541-9DOI Listing
September 2017

Erratum to: Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

J Neurol 2017 09;264(9):1864

Fondazione IRCCS Istituto Neurologico, Via Giovanni Celoria, 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-017-8556-2DOI Listing
September 2017

Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins.

J Autoimmun 2017 Aug 24;82:62-73. Epub 2017 May 24.

Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, 31096, Israel; Division of Neuroimmunology, Lady Davis Carmel Medical Center, Haifa, 34362, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2017.05.005DOI Listing
August 2017

Translation, cross-cultural adaptation, and validation of the french version of the 15-item Myasthenia Gravis Quality Of life scale.

Muscle Nerve 2017 05 3;55(5):639-645. Epub 2017 Jan 3.

Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hopitaux de Paris (APHP), 75651, Paris Cedex 13, France.

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http://doi.wiley.com/10.1002/mus.25381
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http://dx.doi.org/10.1002/mus.25381DOI Listing
May 2017

Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients.

Neuromuscul Disord 2017 Mar 14;27(3):251-258. Epub 2016 Dec 14.

Assistance Public-Hôpitaux de Paris (AP-HP), Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière University Hospital, Immunopathology and Biotherapy (DHU i2B), Paris, France; Sorbonne Universités UPMC Univ Paris 06, Myology research center, INSERM UMRS974, CNRS FRE3617, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2016.12.004DOI Listing
March 2017

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

Neurology 2017 01 23;88(4):359-365. Epub 2016 Dec 23.

From APHP (P.R., A.d.B.), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris Cedex 13, INSERM UMRS1166, UPMC Paris 6; Sorbonne Universités (C.T.), UPMC Univ Paris 6, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617; APHP (T.S., B.E.), Centre de Référence des Maladies Neuromusculaire, Institut de Myologie, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris; APHP (S.P.), Service d'ORL et Chirurgie Cervicofaciale, Hôpital Tenon, UPMC Paris 6; and APHM (J.P.), Aix Marseille Université, Centre de Référence des Maladies Neuromusculaires, Hôpital de La Timone, Marseille, France.

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http://dx.doi.org/10.1212/WNL.0000000000003554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272966PMC
January 2017

Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome.

Neuromuscul Disord 2016 Mar 10;26(3):227-33. Epub 2016 Feb 10.

AP-HP, Cochin Hospital, Department of Cardiology, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2016.01.005DOI Listing
March 2016

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Neurology 2016 Jan 11;86(2):161-9. Epub 2015 Dec 11.

From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731685PMC
January 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685PMC
December 2015

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

Eur Heart J 2015 Nov 29;36(42):2886-93. Epub 2015 Jul 29.

AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France.

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http://dx.doi.org/10.1093/eurheartj/ehv307DOI Listing
November 2015

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Prevalence and correlates of apathy in myotonic dystrophy type 1.

BMC Neurol 2015 Aug 22;15:148. Epub 2015 Aug 22.

ÉCOBES - Recherche et transfert, Cégep de Jonquière, Saguenay, Québec, Canada.

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http://dx.doi.org/10.1186/s12883-015-0401-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546188PMC
August 2015

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

J Neurol Neurosurg Psychiatry 2015 Jun 11;86(6):646-54. Epub 2014 Aug 11.

INSERM U1016, Institut Cochin; CNRS UMR 8104, Paris, France Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, AP-HP, GHU Pitié-Salpêtrière, Paris, France Université Paris-Descartes-Paris5, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2013-306799DOI Listing
June 2015

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.

J Neuromuscul Dis 2015 Jun;2(2):175-180

APHP, Centre de Référence des Maladies Neuromusculaires Paris Est, Unité de Morphologie Neuromusculaire, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, -83, bld de l'hôpital, Paris cedex 13, France.

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http://dx.doi.org/10.3233/JND-140060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271460PMC
June 2015

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

J Inherit Metab Dis 2015 May 12;38(3):573-80. Epub 2014 Nov 12.

APHP, Groupe Hospitalier Pitié-Salpêtrière, Centre de Référence des Pathologies Neuromusculaires Paris-Est, Institut de Myologie, 83 boulevard de l'Hôpital, 75680, Paris CEDEX 13, France,

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http://dx.doi.org/10.1007/s10545-014-9789-1DOI Listing
May 2015

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

Neuromuscul Disord 2015 Apr 10;25(4):308-20. Epub 2014 Dec 10.

INSERM UMRS-1166, Institute of Cardio-metabolism and nutrition (ICAN), Pierre and Marie Curie University, Paris, France. Electronic address:

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April 2015

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Neurology 2015 Apr 10;84(17):1772-81. Epub 2015 Apr 10.

From the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424130PMC
April 2015

Th1 response and systemic treg deficiency in inclusion body myositis.

PLoS One 2014 4;9(3):e88788. Epub 2014 Mar 4.

Inflammation-Immunopathology-Biotherapy (i2B), Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris, France; Internal Medicine Department 1, Centre de référence Maladie Neuromusculaire, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière Paris, France; U974, Sorbonne Universités, Pierre and Marie Curie University, Paris 06, Paris, France; U974, Institut National de la Santé et de la Recherche Médicale, Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942319PMC
February 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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http://dx.doi.org/10.1093/brain/awu272DOI Listing
December 2014

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

J Med Genet 2014 Dec 17;51(12):824-33. Epub 2014 Oct 17.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.

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December 2014

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

Neurology 2014 Dec 5;83(23):2133-9. Epub 2014 Nov 5.

From the Departments of Neurology (N.C.V., B.G.v.E.) and Pathology (M.L.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Internal Medicine (O.B.), Hôpital Pitié Salpêtrière, UPMC, U974, DHU I2B, Paris, France; Department of Hematology (M.C.M., H.L.), University Medical Center Utrecht, the Netherlands; Department of Pathology (M.L.), Antwerp University Hospital, University of Antwerp, Edegem; Departments of Internal Medicine (W.M.) and Hematology (M.D.), University Hospital Leuven, Belgium; Neurology Service (T.K., J.N.), Lausanne University Hospital CHUV, Lausanne; Department of Medical Oncology (T.P.), University Hospital Bern, Switzerland; Electromyography and Neuromuscular Pathologies Department Lyon Est (F.B.), Bron Hospitals, France; Departments of Pathology (N.R.) and Neurology (B.E.), Hôpital Pitié Salpêtrière, Myology Institute, Paris; Department of Hematology (V.L., P.v.d.B.), Hôpital Pitié Salpêtrière, UPMC Univ Paris 6 GRC 11 GRECHY, Paris, France; Neuromuscular Reference Centre, Department of Neurology (V.L., P.v.d.B.), and Department of Hematology (M.C.V.), Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000001047DOI Listing
December 2014

Diagnostic and clinical classification of autoimmune myasthenia gravis.

J Autoimmun 2014 Feb-Mar;48-49:143-8. Epub 2014 Feb 13.

Centre de référence de pathologie neuromusculaire Paris Est, Service de Neurologie 2, Institut de Myologie, Hôpital de la Pitié Salpêtrière, France.

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October 2014

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Neurology 2014 May 30;82(21):1919-26. Epub 2014 Apr 30.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.

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May 2014

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.

Medicine (Baltimore) 2014 May;93(3):150-7

From the AP-HP, Hôpital Pitié-Salpêtrière, Department of Internal Medicine 1 and Inflammation-Immunopathology-Biotherapy Department (I2B), East Paris Neuromuscular Diseases Reference Center, Inserm U974, Université Pierre et Marie Curie, Paris 6, Paris (YA, AR, SH, O. Benveniste); Inserm, U905, Immunology Department, Normandie Univ, IRIB and Rouen University Hospital (LD, FJ, JM, O. Boyer); AP-HP, Hôpital Pitié-Salpêtrière, Department of Immunochemistry, Université Pierre et Marie Curie, Paris 6, Paris (JLC, LM); AP-HP, Hôpital Pitié-Salpêtrière, Institute of Myology, Unite de Morphologie Musculaire, CNRS-UMR7215, Paris (NBR); AP-HP, Hôpital Pitié-Salpêtrière, Department of Neuropathology, Université Pierre et Marie Curie, Paris 6, Paris (TM, OD); AP-HP, Hôpital Pitié-Salpêtrière, Department of Neurology, East Paris Neuromuscular Diseases Reference Center, Université Pierre et Marie Curie, Paris 6, Paris (AB, PL, TS, BE); AP-HP, Hôpital Cochin Centre de Référence Maladies Auto-Immunes et Systémiques Rares, Service de Médecine Interne Pôle Médecine, Université René Descartes Paris V, Paris (NCC, BT); APHM, Hôpital la Timone, Centre de Référence des Maladies Neuromusculaires, Marseille (ECS); Clermont-Ferrand University Hospital, Department of Rheumatology, Clermont-Ferrand (AT); AP-HP, Hôpital Necker, Department of Paediatric Rheumatology, Paris (BBM); AP-HP, Hôpital Bicêtre, Department of Paediatric Rheumatology, Kremlin-Bicêtre, Paris (IKP); CHU Strasbourg, Department of Rheumatology, Strasbourg (JS); Hôpital Pitié-Salpêtrière, Institute of Myology, Paris (LS); AP-HP, Hôpital Jean Verdier, Department of Internal Medicine, La Seine-Saint-Denis (OF); AP-HP, Hôpital Avicenne, Department of Internal Medicine, Bobigny (CL); CHRU Tours, Department of Internal Medicine, Tours (ED); Fondation A. de Rothschild, Department of Neurology, Paris (RDP); AP-HP, Hôpital Bichat, Department of Internal Medicine, Paris (AD); CHU Rennes,

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http://dx.doi.org/10.1097/MD.0000000000000028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632910PMC
May 2014

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

Neuromuscul Disord 2014 Mar 15;24(3):227-40. Epub 2013 Nov 15.

Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, TX, USA; Graduate Programs in Human & Molecular Genetics, University of Texas at Houston Graduate School in Biomedical Sciences, Houston, TX, USA; Graduate Programs in Genes & Development, University of Texas at Houston Graduate School in Biomedical Sciences, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943873PMC
March 2014

[Congenital myasthenic syndromes; French experience].

Bull Acad Natl Med 2014 Feb;198(2):257-70; discussion 270-1

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February 2014

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.

Neuromuscul Disord 2013 Dec 4;23(12):998-1009. Epub 2013 Sep 4.

Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle Épinière (CRICM), Groupe hospitalier Pitié-Salpêtrière, Paris, France; Université Pierre et Marie Curie Paris 6, UMRS975, Paris, France; CNRS, UMR7225, Paris, France; Ecole Pratique des Hautes Etudes, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2013.07.005DOI Listing
December 2013

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Neuromuscul Disord 2013 Dec 2;23(12):992-7. Epub 2013 Oct 2.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences, University of Siena, Siena, Italy; Inserm, U974, Paris F-75013, France; Université Pierre et Marie Curie-Paris 6, UM 76, CNRS, UMR 7215, Institut de Myologie, IFR14, Paris F-75013, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2013.07.003DOI Listing
December 2013

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

Arch Cardiovasc Dis 2013 Dec 17;106(12):635-43. Epub 2013 Oct 17.

Service de cardiologie, université Paris-Descartes, hôpital Cochin, AP-HP, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France; Institut de myologie, université Pierre et Marie-Curie, hôpital Pitié-Salpêtrière, AP-HP, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.acvd.2013.08.003DOI Listing
December 2013

Congenital myasthenic syndromes: an update.

Curr Opin Neurol 2013 Oct;26(5):561-8

Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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October 2013