Publications by authors named "Pascale Richard"

99Publications

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Neurology 2020 09 13;95(11):e1512-e1527. Epub 2020 Aug 13.

From the Basic and Translational Myology Lab (R.N.V.-Q., V.G., A.F.), UMR8251, Université de Paris/CNRS; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (R.N.V.-Q., B. Eymard, N.B.R., A.F.) and Neuromuscular Morphology Unit (N.B.R., M.F.), Institut de Myologie, Pitié-Salpêtrière Hospital, AP-HP, Paris, France; Department of Paediatric Neurology (M.v.d.H.), Medinzinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany; AP-HP (C.M., P.R.), Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, GH Pitié-Salpêtrière, Paris; Department of Neurology (V.G.), University Hospital of Montpellier, France; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesu' Children's Research Hospital, Rome, Italy; Departamento de Neurología Pediátrica (C.C.), Clínica Las Condes, Santiago, Chile; Paediatrics Department (D.C.), Hôpital de Hautepierre, Strasbourg, France; Neuromuscular Unit (J.C.), Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER) (J.C.), ISCIII; Department of Neurology (M.L.C.), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos; Department of Medicine (M.L.C.), Universidad Complutense de Madrid, Spain; Department of Neurology (M.d.V.), Amsterdam University Medical Centre, Amsterdam Neuroscience, the Netherlands; Department of Pediatric Neurology (I.D.), Necker Enfants Malades Hospital, Paris Descartes University, France; Department of Child Neurology (N.G.), University Hospitals Leuven, Belgium; Department of Pediatric Neurology (A.K.), Center for Chronically Sick Children, Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics (E.L.), CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, France; Department of Neuropediatrics (J.L.), University Children's Hospital of Basel (UKBB), Switzerland; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (E.M.), Neurology Department, Raymond-Poincaré Hospital, AP-HP, Garches; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (M.M.), Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Biomedical and Neuromotor Sciences (L.M.), University of Bologna, Italy; Réanimation Médicale, Physiologie-Explorations Fonctionnelles et Centre d'Investigation Clinique, UMR 1429 (D.O.), INSERM-UMR, 1179, UVSQ (D.O.), and Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, AP-HP, UVSQ Paris Saclay (B. Estournet, S.Q.-R.), Hôpital Raymond Poincaré, Garches, France; Department of Neurology (U.R.), Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, German; Division of Pediatric Neurology, Department of Pediatrics (M.A.S.), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Friedrich-Baur-Institut (B.S.-W.), Department of Neurology, Ludwig-Maximilians-University of Munich; Department of Pediatric Neurology (M.S.), University of Tübingen, Germany; The John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, UK; Department of Child Neurology (H.T.), Hacettepe University, School of Medicine, Ankara, Turkey; Centre de Compétence Neuromusculaire (J.A.U.), Hôpital Marin, Hendaye, France; Department of Neurology (A.v.d.K.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, the Netherlands; Pediatrics and Adolescent Medicine, Division of Pediatric Neurology (E.W.), University Medical Center Göttingen, Georg-August University Göttingen, Germany; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Pediatric Neurology (U.S.), Developmental Neurology and Social Pediatrics, University of Essen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000010327DOI Listing
September 2020

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Clin Genet 2019 10 18;96(4):317-329. Epub 2019 Jul 18.

APHP, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié- Salpêtrière- Charles Foix, Paris, France.

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http://dx.doi.org/10.1111/cge.13594DOI Listing
October 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 07 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

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 05;12(5):e002500

Département de génétique médicale, APHM, Hôpital d'enfants de la Timone, Marseille, France. Aix Marseille University, INSERM, Marseille Medical Genetics, Faculté de Médecine, France (K.N., S.R., D.S., J.-P.D., M.C., F.M., C.B., N.L.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002500DOI Listing
May 2019

Global and regional echocardiographic strain to assess the early phase of hypertrophic cardiomyopathy due to sarcomeric mutations.

Eur Heart J Cardiovasc Imaging 2020 03;21(3):291-298

APHP, Centre de référence pour les maladies cardiaques héréditaires, Hôpital Pitié-Salpêtrière, 47 bvd de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1093/ehjci/jez084DOI Listing
March 2020

External validation of risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers.

Eur J Heart Fail 2019 02 9;21(2):253-254. Epub 2019 Jan 9.

APHP, Département de Cardiologie, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/ejhf.1384
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http://dx.doi.org/10.1002/ejhf.1384DOI Listing
February 2019

[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:39-41. Epub 2018 Nov 12.

Unité Fonctionnelle de Cardiogénétique et Myogénétique, Centre de Génétique, Hôpitaux Universitaires Pitié Salpêtrière - Charles Foix, Paris, France.

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https://www.medecinesciences.org/10.1051/medsci/201834s211
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http://dx.doi.org/10.1051/medsci/201834s211DOI Listing
November 2018

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Eur Radiol 2018 Dec 25;28(12):5293-5303. Epub 2018 May 25.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.

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http://dx.doi.org/10.1007/s00330-018-5472-5DOI Listing
December 2018

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: Authors' reply.

Europace 2018 08;20(8):1389

APHP, Functional Unit of Cardiogenetics and Myogenetics, Hôpitaux Universitaires de la Pitié Salpêtrière, 47-83 Bd de l'Hôpital, Paris, France.

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http://dx.doi.org/10.1093/europace/eux257DOI Listing
August 2018

Diaphragmatic dysfunction in SEPN1-related myopathy.

Neuromuscul Disord 2017 Aug 26;27(8):747-755. Epub 2017 Apr 26.

AP-HP, Hôpital Necker-Enfants Malades, Pediatric noninvasive ventilation and sleep unit, Paris, France; INSERM U955, Equipe 13, Créteil, France; Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.04.010DOI Listing
August 2017

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.

Muscle Nerve 2018 02 30;57(2):330-334. Epub 2017 Mar 30.

Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1002/mus.25631DOI Listing
February 2018

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

Zika virus in asymptomatic blood donors in Martinique.

Blood 2017 01 8;129(2):263-266. Epub 2016 Nov 8.

Aix-Marseille Université, French Institute of Research for Development, INSERM, Institut Hospitalo-Universitaire Méditerranée Infection, Unité Mixte de Recherche_D190 "Emergence des Pathologies Virales," Marseille, France.

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http://dx.doi.org/10.1182/blood-2016-09-737981DOI Listing
January 2017

Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy.

Circ Arrhythm Electrophysiol 2016 08;9(8)

From the Cardiovascular Division, Brigham and Women's Hospital, Boston, MA (S.K., S.H.B., B.A.K., R.M.J., G.F.M., N.K.L., W.G.S., U.B.T.); Department of Cardiology, Leiden University Medical Centre, The Netherlands (A.F.A.A., K.Z.); Hôpital Cardiologique du Haut-Lévêque (CHU), Bordeaux-Pessac & L'Institut de RYthmologie et Modélisation Cardiaque (LIRYC), Institut Hospitalo-Universitaire (IHU), Bordeaux, France (J.-M.S., F.S.); Centre Hospitalier Universitaire de Nancy (J.-M.S.); Toulouse University Hospital, Rangueil, Toulouse (P.M., A.R.); Département de Cardiologie, Hôpital Pitié-Salpêtrière, AP-HP (J.-M.S., F.S., E.G., X.W.); Cardio-myogenetic, Department of Biochimie and INSERM U582, University Hospital Pitié-Salpêtrière, AP-HP (P.R.); Centre de Référence Maladies Cardiaques Héréditaires, ICAN, Hôpital Pitié-Salpêtrière, Paris (P.C.); and Université de Versailles-Saint Quentin, Hôpital Ambroise Paré, AP-HP, Boulogne-Billancourt, France (P.C.).

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http://dx.doi.org/10.1161/CIRCEP.116.004357DOI Listing
August 2016

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

Arch Med Sci 2016 Apr 11;12(2):263-78. Epub 2016 Apr 11.

AP-HP, Département de Génétique et Département de Cardiologie et Inserm UMR 1166, Hopital Pitié-Salpêtrière, Paris, France; Université de Versailles Saint Quentin en Yvelines, Versailles, France.

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http://dx.doi.org/10.5114/aoms.2016.59250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848357PMC
April 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

Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy.

HeartRhythm Case Rep 2015 Sep 9;1(5):305-309. Epub 2015 Jun 9.

AP-HP, Centre de référence maladies cardiaques héréditaires, ICAN, Inserm UMR_1166, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.hrcr.2015.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5419530PMC
September 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

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Muscle Nerve 2015 Nov 14;52(5):728-35. Epub 2015 Sep 14.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.

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http://dx.doi.org/10.1002/mus.24634DOI Listing
November 2015

Genetic advances in sarcomeric cardiomyopathies: state of the art.

Cardiovasc Res 2015 Apr 29;105(4):397-408. Epub 2015 Jan 29.

Department of Cardiology, Academic Medical Center Amsterdam, University of Amsterdam, Amsterdam, The Netherlands.

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http://cardiovascres.oxfordjournals.org/content/cardiovascre
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http://cardiovascres.oxfordjournals.org/cgi/doi/10.1093/cvr/
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http://dx.doi.org/10.1093/cvr/cvv025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349164PMC
April 2015

Prospective detection of chikungunya virus in blood donors, Caribbean 2014.

Blood 2014 Jun;123(23):3679-81

Aix Marseille Universite, French Institute of Research for Development, French School of Public Health, Unité Mixte de Recherche_D190 "Emergence des Pathologies Virales," Marseille, France.

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http://dx.doi.org/10.1182/blood-2014-03-564880DOI Listing
June 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

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.

Neurol India 2013 Nov-Dec;61(6):622-6

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/0028-3886.125269DOI Listing
March 2014

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction.

Pflugers Arch 2014 Feb 12;466(2):215-23. Epub 2013 Dec 12.

Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00424-013-1409-7DOI Listing
February 2014

Assessment of leucoreduction of sickle cell trait blood: quality of the filtered product.

Blood Transfus 2014 Jan 30;12 Suppl 1:s193-8. Epub 2012 Oct 30.

Immunohaematology and Blood Products, Blood Transfusion Establishment (EFS), Fort de France, Martinique, French West Indies.

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http://dx.doi.org/10.2450/2012.0084-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934245PMC
January 2014

Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: is sporting disqualification really necessary?

Br J Sports Med 2012 Nov;46 Suppl 1:i59-68

AP-HP, Functional Unit of Cardiogenetics and Myogenetics, department of Biochemistry, Pitié-Salpêtrière Hospital, Paris, France.

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http://dx.doi.org/10.1136/bjsports-2012-091318DOI Listing
November 2012

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Neuromuscul Disord 2012 Oct;22 Suppl 2:S137-47

AP-HP, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Pôle neuro-locomoteur, Hôpital R. Poincaré. Service d'imagerie médicale, Groupe Rachis Garches, F-92380 Garches, France.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661200529
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http://dx.doi.org/10.1016/j.nmd.2012.06.347DOI Listing
October 2012

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

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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http://dx.doi.org/10.1002/mus.22179DOI Listing
October 2011

Identification of RHCE and KEL alleles in large cohorts of Afro-Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patients.

Br J Haematol 2011 Jul 28;154(2):260-70. Epub 2011 May 28.

Laboratoire d'Hématologie Moléculaire, Établissement Français du Sang Alpes Méditerranée, UMR 6578, Université de Méditerranée, Marseille, France.

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http://dx.doi.org/10.1111/j.1365-2141.2011.08691.xDOI Listing
July 2011

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

Neuromuscul Disord 2011 Jun 6;21(6):433-8. Epub 2011 May 6.

AP-HP, Centre de Référence des Maladies Neuromusculaires Paris-Est, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris F-75013, France.

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http://dx.doi.org/10.1016/j.nmd.2011.03.005DOI Listing
June 2011

Novel LMNA mutation presenting as severe congenital muscular dystrophy.

Pediatr Neurol 2010 Oct;43(4):283-6

Department of Neurology, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.05.016DOI Listing
October 2010

Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.

Eur Heart J 2010 Jul 3;31(13):1599-607. Epub 2010 May 3.

AP-HP, Hôpital Pitié-Salpêtrière, Département de Cardiologie, Paris F-75013, France.

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http://dx.doi.org/10.1093/eurheartj/ehq101DOI Listing
July 2010

Reemergence of syphilis in Martinique, 2001-2008.

Emerg Infect Dis 2010 Jan;16(1):106-9

Service des Maladies Infectieuses et Tropicales, Centre Hospitalier Universitaire de Fort-de-France, 97200 Fort-de-France, Martinique, French West Indies.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874347PMC
http://dx.doi.org/10.3201/eid1601.081730DOI Listing
January 2010

Rigid spine syndrome revealing late-onset Pompe disease.

Neuromuscul Disord 2010 Feb 14;20(2):128-30. Epub 2009 Dec 14.

Centre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2009.11.006DOI Listing
February 2010

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.

Neurol Neurochir Pol 2009 Mar-Apr;43(2):113-20

Katedra i Klinika Neurologii WUM w Warszawie, Samodzielny Publiczny Centralny Szpital Kliniczny, ul. Banacha 1a, 02-097 Warszawa.

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July 2009

A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.

Pacing Clin Electrophysiol 2009 Mar;32(3):410-5

Unité Rythmologie et Stimulation Cardiaque, CHU Rangueil, 1 Avenue Jean Poulhés-TSA 50032-31059 Toulouse Cedex 9, France.

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http://doi.wiley.com/10.1111/j.1540-8159.2008.02254.x
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http://dx.doi.org/10.1111/j.1540-8159.2008.02254.xDOI Listing
March 2009

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

Neuromuscul Disord 2009 Feb 12;19(2):163-6. Epub 2009 Jan 12.

Department of Pathology, Rangueil University Hospital, TSA 50032, 31059 Toulouse Cedex 9, France.

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http://dx.doi.org/10.1016/j.nmd.2008.11.012DOI Listing
February 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

Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.

Rev Port Cardiol 2008 Feb;27(2):147-73

Clínica Universitária de Cardiologia, Faculdade de Medicina de Lisboa, Portugal.

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February 2008

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Neuromuscul Disord 2008 Jan 14;18(1):45-51. Epub 2007 Sep 14.

Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2007.08.002DOI Listing
January 2008

A familial form of conduction defect related to a mutation in the PRKAG2 gene.

Europace 2007 Aug 4;9(8):597-600. Epub 2007 May 4.

Université Pierre et Marie Curie-Paris 6, Inserm UMR621, AP-HP, Hôpital Pitié-Salpêtrière, Département de Cardiologie, Paris, France.

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http://dx.doi.org/10.1093/europace/eum071DOI Listing
August 2007

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Neuromuscul Disord 2007 May 23;17(5):409-14. Epub 2007 Mar 23.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2007.01.018DOI Listing
May 2007

Crisis at the summit.

Harv Bus Rev 2007 Mar;85(3):80-9, 142

Parsons Group, Eugene, Oregon, USA.

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March 2007

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine.

J Child Neurol 2006 Apr;21(4):316-20

Department of Pediatric Neurology, Children's Hospital Technical University Dresden, Germany.

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http://dx.doi.org/10.1177/08830738060210041401DOI Listing
April 2006

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

EMBO Rep 2006 Apr 24;7(4):450-4. Epub 2006 Feb 24.

Institut National de la Santé et de la Recherche Médicale, U582, Institut de Myologie, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/sj.embor.7400648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1456920PMC
April 2006

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.

Muscle Nerve 2006 Mar;33(3):393-7

Département de Neurologie, Hôpital Civil, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1002/mus.20471DOI Listing
March 2006

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Brain Dev 2006 May 20;28(4):232-42. Epub 2005 Dec 20.

Unité de Neurologie Pédiatrique, Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1016/j.braindev.2005.08.003DOI Listing
May 2006

Your company's secret change agents.

Harv Bus Rev 2005 May;83(5):72-81, 153

Oxford University, England.

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May 2005

Diagnostic accuracy of a 2D left ventricle hypertrophy score for familial hypertrophic cardiomyopathy.

Eur Heart J 2005 Sep 28;26(18):1882-6. Epub 2005 Apr 28.

Service de Cardiologie, Hôpital Ambroise Paré, AP-HP, 9 Avenue Charles De Gaulle, Boulogne, France.

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http://dx.doi.org/10.1093/eurheartj/ehi276DOI Listing
September 2005

Genetics of laminopathies.

Novartis Found Symp 2005 ;264:81-90; discussion 90-97, 227-30

Inserm U582, Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitié-Salpe'triire, 47, Boulevard de l'Hôpital, Paris, France.

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April 2005

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.

Neuromuscul Disord 2005 Jan;15(1):40-4

Friedrich-Baur-Institute, Gene Center and Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2004.09.007DOI Listing
January 2005

MUSK, a new target for mutations causing congenital myasthenic syndrome.

Hum Mol Genet 2004 Dec 20;13(24):3229-40. Epub 2004 Oct 20.

INSERM U582 & IFR Cur, Muscle, Vaisseaux, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddh333DOI Listing
December 2004

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case.

Prenat Diagn 2004 Sep;24(9):701-3

Département de Génétique, Cytogénétique et Embryologie, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1002/pd.969DOI Listing
September 2004

Congenital myasthenic syndromes.

Curr Opin Neurol 2004 Oct;17(5):539-51

Inserm U582 and Unité Clinique de Pathologie Neuromusculaire, Institut de Myologie, Hôpital de la Salpêtrière, Paris, France.

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http://dx.doi.org/10.1097/00019052-200410000-00004DOI Listing
October 2004

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Ann Neurol 2004 May;55(5):676-86

Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/ana.20077
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http://dx.doi.org/10.1002/ana.20077DOI Listing
May 2004

Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.

J Mol Cell Cardiol 2004 Mar;36(3):355-62

INSERM U582, Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 47, Bld de l'Hôpital, 75651 Paris cedex 13, France.

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http://dx.doi.org/10.1016/j.yjmcc.2003.12.006DOI Listing
March 2004

Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

Rev Port Cardiol 2003 Dec;22(12):1445-61

Serviço de Cardiologia do Hospital de Santa Maria, Lisboa, Portugal.

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December 2003