France Leturcq

France Leturcq

UNVERIFIED PROFILE

Are you France Leturcq?   Register this Author

Register author
France Leturcq

France Leturcq

Publications by authors named "France Leturcq"

Are you France Leturcq?   Register this Author

66Publications

2417Reads

49Profile Views

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Neuromuscul Disord 2019 Sep 19;29(9):678-683. Epub 2019 Jun 19.

APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966193014
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2019.06.009DOI 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.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies).

Am J Cardiol 2018 07 16;122(2):353-355. Epub 2018 Apr 16.

CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France; Service de Neurologie, Institut de Myologie, APHP, CHU Pitié Salpetrière, Paris, France; Center of Clinical Investigation Paris-Est, Pitié Salpetrière, APHP, ICAN, Sorbonne Université, Paris, France; Service de Physiologie-Exploration fonctionnelles, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France; Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, AP-HP, Université Paris Descartes-Sorbonne Paris Cité, Paris, France; Centre d'Investigation clinique et Innovation technologique CIC 14.29, APHP, CHU Raymond Poincaré, Garches, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjcard.2018.04.001DOI Listing
July 2018

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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mus.25608
Publisher Site
http://dx.doi.org/10.1002/mus.25608DOI Listing
December 2017

Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.

ESC Heart Fail 2017 11 18;4(4):527-534. Epub 2017 May 18.

Service de Réanimation médicale et unité de ventilation à domicile, centre de référence neuromusculaire GNMH, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ehf2.12165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695197PMC
November 2017

Captain Haddock's health issues in the adventures of Tintin. Comparison with Tintin's health issues.

Presse Med 2016 Jul-Aug;45(7-8 Pt 1):e225-32. Epub 2016 Jul 21.

Manx Text, 118 Woodbourne Road, Douglas, Isle of Man IM2 3BA, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lpm.2016.02.027DOI Listing
February 2017

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685PMC
December 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/201531s311DOI Listing
November 2015

[Interest of Droplet digital PCR in non-invasive prenatal testing].

Ann Biol Clin (Paris) 2015 Nov;73 Suppl 1:22-3

Service de biochimie et génétique moléculaire, HUPC Hôpital Cochin, Paris, France, Inserm U1016, Institut Cochin, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2015.1084DOI Listing
November 2015

Tintin's travel traumas: Health issues affecting the intrepid globetrotter.

Presse Med 2015 Jun 11;44(6 Pt 1):e203-10. Epub 2015 May 11.

Manx Text, 118, Woodbourne road, IM2 3BA, Douglas, British Isles, Isle of Man.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lpm.2015.01.006DOI Listing
June 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.

View Article

Download full-text PDF

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

Becker muscular dystrophy severity is linked to the structure of dystrophin.

Hum Mol Genet 2015 Mar 27;24(5):1267-79. Epub 2014 Oct 27.

Université de Rennes 1, Avenue du Professeur Léon Bernard, 35043 Rennes, France, CNRS UMR 6290, Institut de Génétique et Développement de Rennes, 35043 Rennes, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu537DOI Listing
March 2015

When a mid-intronic variation of DMD gene creates an ESE site.

Neuromuscul Disord 2014 Dec 1;24(12):1111-7. Epub 2014 Aug 1.

Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.07.003DOI Listing
December 2014

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Hum Mol Genet 2012 Aug 15;21(15):3449-60. Epub 2012 May 15.

UM76-UPMC/U974-Inserm/UMR7215-CNRS, Institut de Myologie 105 Bd de l’Hôpital, 75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/dds176DOI Listing
August 2012

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.

Neuromuscul Disord 2011 May 9;21(5):328-37. Epub 2011 Mar 9.

Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Av. Gral. Flores 2125, Montevideo CP 11800, Uruguay.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2011.02.003DOI Listing
May 2011

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Sci Transl Med 2010 Sep;2(50):50ra69

Inserm UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de Marseille, Université de la Méditerranée, 13005 Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scitranslmed.3000951DOI Listing
September 2010

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Arch Neurol 2010 Apr;67(4):497-500

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2010.58DOI Listing
April 2010

Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation.

J Neuropathol Exp Neurol 2009 Jul;68(7):762-73

AP-HP, Necker - Enfants Malades Hospital, Neuropediatry Unit, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/NEN.0b013e3181aa31c2DOI Listing
July 2009

Dysferlinopathies.

Neurol India 2008 Jul-Sep;56(3):289-97

Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France.

View Article

Download full-text PDF

Source
June 2009

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Neuromuscul Disord 2009 Apr 19;19(4):255-60. Epub 2009 Mar 19.

Laboratoire de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2009.02.003DOI Listing
April 2009

Revised spectrum of mutations in sarcoglycanopathies.

Eur J Hum Genet 2008 Jul 20;16(7):793-803. Epub 2008 Feb 20.

Laboratoire de Biochimie Génétique et Moléculaire, Hôpital Cochin, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2008.9DOI Listing
July 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.

View Article

Download full-text PDF

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

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy.

Clin Neurol Neurosurg 2006 Jun 14;108(4):369-73. Epub 2005 Jul 14.

Department of Medical Laboratory Science, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2005.05.014DOI Listing
June 2006

[Molecular bases of dystrophinopathies].

J Soc Biol 2005 ;199(1):5-11

Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin et Institut Cochin, 123 Boulevard de Port-Royal, 75014 Paris.

View Article

Download full-text PDF

Source
October 2005

Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through.

Eur J Haematol 2005 May;74(5):389-95

Institut Cochin, Département Génétique, Développement et Pathologie Moléculaire, Unité 567 INSERM, Université René Descartes, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1600-0609.2004.00388.xDOI Listing
May 2005

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.

Science 2004 Dec 4;306(5702):1796-9. Epub 2004 Nov 4.

Généthon & CNRS UMR 8115, 1, rue de l'Internationale, Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1104297DOI Listing
December 2004

[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004 Apr;21(2):128-31

Department of Medical Laboratory Science, Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 P.R.China.

View Article

Download full-text PDF

Source
April 2004