Pascal Laforet

Pascal Laforet

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Pascal Laforet

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The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study.

Neuroimage Clin 2019 28;21:101618. Epub 2018 Nov 28.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry, Londonderry, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2018.101618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413472PMC
December 2019

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Neurology 2019 11 16;93(19):e1756-e1767. Epub 2019 Oct 16.

From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.

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http://dx.doi.org/10.1212/WNL.0000000000008441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946483PMC
November 2019

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

No effect of triheptanoin on exercise performance in McArdle disease.

Ann Clin Transl Neurol 2019 Oct 14;6(10):1949-1960. Epub 2019 Sep 14.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/acn3.50863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801166PMC
October 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

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

J Inherit Metab Dis 2019 Sep 8;42(5):803-808. Epub 2019 Apr 8.

Neurology Department, Hôpital Raymond Poincaré, Paris, France.

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http://dx.doi.org/10.1002/jimd.12087DOI Listing
September 2019

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

Neuromuscul Disord 2019 09 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:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966193014
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http://dx.doi.org/10.1016/j.nmd.2019.06.009DOI Listing
September 2019

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Muscle Nerve 2019 07 24;60(1):72-79. Epub 2019 Apr 24.

APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.26483
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http://dx.doi.org/10.1002/mus.26483DOI Listing
July 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

Progress and challenges of gene therapy for Pompe disease.

Ann Transl Med 2019 Jul;7(13):287

Genethon and Spark Therapeutics, Philadelphia, PA, USA.

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http://dx.doi.org/10.21037/atm.2019.04.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642941PMC
July 2019

Congenital myopathies are mainly associated with a mild cardiac phenotype.

J Neurol 2019 Jun 14;266(6):1367-1375. Epub 2019 Mar 14.

Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00415-019-09267-3DOI Listing
June 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

[Late-onset Pompe disease: the lessons drawn from the use of Myosime - Clinical use of innovative, repurposed or off-label therapies: a real life experience (1)].

Authors:
Pascal Laforêt

Med Sci (Paris) 2019 Mar 3;35 Hors série n° 1:18-21. Epub 2019 Apr 3.

Hôpital Raymond Poincaré, 104, boulevard Raymond Poincaré, 92380 Garches, France Centre de Référence des maladies neuromusculaires Nord-Est-Île de France.

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http://dx.doi.org/10.1051/medsci/2019021DOI Listing
March 2019

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.

JIMD Rep 2019 Mar 14;46(1):79-84. Epub 2019 Mar 14.

Copenhagen Neuromuscular Center, Department of Neurology Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen Denmark.

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http://dx.doi.org/10.1002/jmd2.12024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498824PMC
March 2019

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.

J Clin Rheumatol 2019 Feb 19. Epub 2019 Feb 19.

Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de référence des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches.

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http://dx.doi.org/10.1097/RHU.0000000000001000DOI Listing
February 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

The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization.

Rev Neurol (Paris) 2018 Dec 5;174(10):752-755. Epub 2018 Apr 5.

Service de neurologie, hôpital Raymond-Poincaré, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, AP-HP, 92380 Garches, France.

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http://dx.doi.org/10.1016/j.neurol.2017.08.004DOI Listing
December 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

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

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

J Inherit Metab Dis 2018 11 28;41(6):937-946. Epub 2018 Aug 28.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1007/s10545-018-0243-7DOI Listing
November 2018

The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy.

Clin Neurophysiol 2018 11 13;129(11):2333-2340. Epub 2018 Sep 13.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry/Londonderry, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183121
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http://dx.doi.org/10.1016/j.clinph.2018.08.025DOI Listing
November 2018

Renal artery fibromuscular dysplasia in Pompe disease: A case report.

Mol Genet Metab Rep 2018 Sep 26;16:64-65. Epub 2018 Jul 26.

Centre de Référence Neuromusculaire Nord/Est/Ile de France, AP-HP, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183006
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http://dx.doi.org/10.1016/j.ymgmr.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078050PMC
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

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.

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

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Muscle Nerve 2018 05 22;57(5):E122-E124. Epub 2017 Dec 22.

Myology Institute, Neuromuscular Pathology Reference Center, Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Univ Paris 06, Paris, France.

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http://dx.doi.org/10.1002/mus.26030DOI Listing
May 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

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

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
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http://dx.doi.org/10.1002/mus.25608DOI Listing
December 2017

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency.

Neurology 2017 Dec 15;89(24):2491-2494. Epub 2017 Nov 15.

From the Copenhagen Neuromuscular Center (M.G.S., K.L.M., A.E.B., J.V.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; and Paris-Est Neuromuscular Center (P.L.), Université Pierre et Marie Curie, Hôpital Pitié-Salpêtrière, France.

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http://dx.doi.org/10.1212/WNL.0000000000004752DOI 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

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

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.

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

Update on new muscle glycogenosis.

Curr Opin Neurol 2017 10;30(5):449-456

aNord-Est-Ile de France Neuromuscular Reference Center, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris bMyology Institute, Neuromuscular Pathology Reference Center, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Sorbonne Universités UPMC Univ Paris 06, Paris, France cCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1097/WCO.0000000000000484DOI Listing
October 2017

Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Endocr Connect 2017 Aug 10;6(6):384-394. Epub 2017 May 10.

Copenhagen Neuromuscular CenterDepartment of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1530/EC-17-0042DOI Listing
August 2017

1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France.

Neuromuscul Disord 2017 07 3;27(7):683-692. Epub 2017 Mar 3.

Généthon, INSERM, U951, INTEGRARE Research Unit, Evry F-91002, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.011DOI Listing
July 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

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

J Inherit Metab Dis 2016 09 22;39(5):697-704. Epub 2016 Apr 22.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9932-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987401PMC
September 2016

Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease.

Neuromuscul Disord 2016 09 27;26(9):610-3. Epub 2016 Jun 27.

Paris-Est Neuromuscular Center, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2016.02.016DOI Listing
September 2016

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

BMJ Open Sport Exerc Med 2016 7;2(1):e000151. Epub 2016 Sep 7.

Department of Neurology , Radboud University Medical Centre , Nijmegen , The Netherlands.

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http://bmjopensem.bmj.com/lookup/doi/10.1136/bmjsem-2016-000
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http://dx.doi.org/10.1136/bmjsem-2016-000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117086PMC
September 2016

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

Peripheral neuropathy in glycogen storage disease type III: Fact or myth?

Muscle Nerve 2016 Feb 29;53(2):310-2. Epub 2015 Dec 29.

AP-HP, G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.24977DOI Listing
February 2016

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.

Acta Myol 2015 Dec;34(2-3):141-3

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center and Dept of Pediatrics, Rotterdam, the Netherlands;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859079PMC
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

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.

Neuromuscul Disord 2015 Aug 21;25(8):674-8. Epub 2015 Apr 21.

Centre for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.04.006DOI Listing
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

Should patients with asymptomatic pompe disease be treated? A nationwide study in France.

Muscle Nerve 2015 Jun 2;51(6):884-9. Epub 2015 Apr 2.

Centre de Référence Neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, and U974, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1002/mus.24653DOI Listing
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

Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients.

J Inherit Metab Dis 2015 May 7;38(3):565-72. Epub 2015 Mar 7.

Institut de Myologie and CEA, DSV, IBM, MIRCen, Laboratoire de RMN, Pitie-Salpetriere University Hospital, Bd de l'Hôpital, 75651, Paris Cedex 13, France,

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http://dx.doi.org/10.1007/s10545-015-9825-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432102PMC
May 2015

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.

Neurology 2015 Apr 1;84(17):1767-71. Epub 2015 Apr 1.

From the Neuromuscular Research Unit, Department of Neurology (N.P., K.L.M., K.P.P., G.H., C.R.V., J.V.), and the Department of Inflammation Research (H.G.), Rigshospitalet, University of Copenhagen, Denmark; and the Centre de Référence de Pathologie Neuromusculaire Paris-Est (P.L.), Institut de Myologie, GH Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.

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http://www.neurology.org/content/84/17/1767.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000151
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http://dx.doi.org/10.1212/WNL.0000000000001518DOI Listing
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

No effect of bezafibrate in patients with CPTII and VLCAD deficiencies.

J Inherit Metab Dis 2015 Mar 21;38(2):373-4. Epub 2014 Oct 21.

Neuromuscular Clinic and Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark,

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http://link.springer.com/10.1007/s10545-014-9779-3
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March 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

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

Neuromuscul Disord 2014 Jul 24;24(7):648-50. Epub 2014 Apr 24.

Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2014.04.005DOI Listing
July 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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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000045
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http://dx.doi.org/10.1212/WNL.0000000000000450DOI Listing
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

Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial.

Neurology 2014 Feb 22;82(7):607-13. Epub 2014 Jan 22.

From the Neuromuscular Clinic and Research Unit (M.C.Ø, K.L.M., N.P., G.A., J.V.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; and Centre de Référence de pathologie neuromusculaire Paris-Est (P.L.), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000000118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963421PMC
February 2014

POLG mutations associated with remitting/relapsing neurological events.

J Clin Neurosci 2014 Jan 2;21(1):186-8. Epub 2013 Jul 2.

Service de Neurologie et Faculté de Médecine, Université Champagne-Ardenne CHU de Reims, Reims, France; Laboratoire de psychopathologie et Neuropsychologie, EA2027 Université Paris, France.

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http://dx.doi.org/10.1016/j.jocn.2013.03.019DOI Listing
January 2014

Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study.

Mol Ther 2014 Jan 8;22(1):219-25. Epub 2013 Jul 8.

1] Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Assistance publique-Hôpitaux de Paris (APHP), Hôpital Tenon, Paris, France [2] Université Paris VI Pierre et Marie Curie, Paris, France [3] Thérapie des maladies du muscle strié/ Institut de Myologie, UM76, INSERM U974, Groupe hospitalier Pitié-Salpétrière, Paris, France [4] CNRS UMR 7215, Paris, France.

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http://dx.doi.org/10.1038/mt.2013.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978797PMC
January 2014

PNPLA2 mutation: a paediatric case with early onset but indolent course.

Neuromuscul Disord 2013 Dec 30;23(12):986-91. Epub 2013 Aug 30.

CHU Saint-Étienne, Hôpital Bellevue, Department of Paediatric Physical Medicine and Rehabilitation, Rhône-Alpes Reference Centre for Neuromuscular Diseases, Saint-Étienne F-42055, France.

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http://dx.doi.org/10.1016/j.nmd.2013.08.008DOI 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

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Neurology 2013 Nov 23;81(21):1810-8. Epub 2013 Oct 23.

From Inserm Institut Cochin U1016 (K.A., C.J., F.B., A.L.), Paris; AP/HP (K.A.), Hôpital Ambroise Paré, Service d'explorations fonctionnelles, Boulogne-Billancourt; Université Versailles-Saint-Quentin en Yvelines (K.A.); AP-HP (O.D.), CHU Pitié-Salpêtrière, Service de Neuropathologie, Paris; AP-HP (C.J., D.S.), CHU Pitié-Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris; Inserm U1069 (L.C., C.V.), Tours; Université François Rabelais (L.C., C.V.), Tours; UPMC (D.S., E.F., B.F.), Inserm UMR975, CNRS 7225, Institut Cerveau Moelle, Paris; AP-HP (E.F., P.L.), Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, Paris; AP-HP (E.F., B.F.), Centre de Référence des Canalopathies Musculaires, Hôpital Pitié-Salpêtrière, Paris; Hospices Civils de Lyon (N.S.), Centre de Pathologie Est, Bron; Université Claude Bernard Lyon1-CNRS UMR5292-INSERM U1028 (N.S.); Centre de référence Maladies Neuromusculaires Rares (P.P., H.G.-B., C.V.), Rhône-Alpes; Hospices Civils de Lyon (P.P.), Hôpital de la Croix-Rousse, explorations fonctionnelles neurologiques, Lyon; Hospices Civils de Lyon (H.G.-B., C.V.), Hôpital Pierre Wertheimer, service d'électromyographie et pathologies neuromusculaires, Bron; CHU de Rouen (A.-L.B.-M.), Service de neurologie, Rouen; CHU de Rouen (V.D.-G.), Service de génétique, Rouen; CNRS UMR 8104 (F.B., A.L.), Paris; and Université Paris-Descartes-Paris 5 (F.B., A.L.), Paris, France.

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http://dx.doi.org/10.1212/01.wnl.0000436067.43384.0bDOI Listing
November 2013

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

Orphanet J Rare Dis 2013 Jul 12;8:106. Epub 2013 Jul 12.

Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Antoine, Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, F-75012, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720184PMC
July 2013