Anthony Behin

Anthony Behin

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Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy.

J Neurol 2020 Jan 15;267(1):228-238. Epub 2019 Oct 15.

I-Motion-Pediatric Clinical Trials Department, Hôpital Armand Trousseau, Bâtiment Lemariey-Porte 20 * 2ème étage, 26 Avenue du Dr Arnold Netter, 75012, Paris, France.

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http://dx.doi.org/10.1007/s00415-019-09569-6DOI Listing
January 2020

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

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

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

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

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

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

Hyperammonaemia following exercise may also reveal PGK1 deficiency.

J Clin Pathol 2019 Jun 27;72(6):452. Epub 2019 Mar 27.

Paris-Est Neuromuscular Center, Institute of Myology, University Hospital Pitié Salpêtrière, Paris, France.

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http://dx.doi.org/10.1136/jclinpath-2019-205750DOI 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

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

Neurology 2019 04 25;92(18):e2109-e2117. Epub 2019 Jan 25.

From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa; Division of Neurology, Department of Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Référence de Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Hadassah Clinical Research Center (Y.C.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine (T.M.), Orange. H.L. is currently affiliated with the Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006932DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512882PMC
April 2019

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

Eur J Hum Genet 2019 03 5;27(3):337-339. Epub 2018 Oct 5.

APHP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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

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

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

Regulatory B cells in myasthenia gravis are differentially affected by therapies.

Ann Clin Transl Neurol 2018 Nov 22;5(11):1408-1414. Epub 2018 Sep 22.

Center of Research in Myology Sorbonne University INSERM AIM UMRS974 Paris France.

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http://dx.doi.org/10.1002/acn3.645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243377PMC
November 2018

Immune checkpoint inhibitor-related myositis and myocarditis in patients with cancer.

Neurology 2018 09 8;91(10):e985-e994. Epub 2018 Aug 8.

From Sorbonne Université (M.T., D.P.), Inserm, CNRS, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neurologie 2-Mazarin; OncoNeuroTox Group (M.T., T.M., N.W., T.L., D.P.), Center for Patients With Neurological Complications of Oncologic Treatments, Hôpitaux Universitaires Pitié-Salpetrière-Charles Foix et Hôpital Percy, Paris, France; Department of Oncologic Pathology (M.T.), Dana-Farber/Brigham and Women's Cancer Center, Harvard Medical School, Boston, MA; Service de Neuropathologie Raymond Escourolle (T.M., S.L.-L.), Départment de Neurophysiologie Clinique (T.M., T.L., S.L.-L.), Département de Médecine Interne et Immunologie Clinique (B.H., Y.A., O.B.), and Centre de Référence de Pathologie Neuromusculaire Paris-Est (B.H., A.B., Y.A., O.B., S.L.-L.), APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Charité-Universitatsmedizin Berlin Klinik fur Neurologie mit Experimenteller Neurologie (S.K.), Experimentelle Neurologie; Centrum fur Schlaganfallforschung Berlin (S.K.), Germany; Service de Réanimation Médicale (O.B.H.S.), Service de Médecine Interne (T.-A.S.), and Département de Dermatologie (N.K.), Hôpital Cochin, APHP, Hôpitaux Universitaires Paris Centre; Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris) (B.H.), Sorbonne Universités; Service d'Explorations Fonctionnelles (K.A.), APHP, Hôpital Ambroise Paré, Boulogne-Billancourt; Service de Pneumologie (C.L.) and Service d'Anatomie Pathologique (J.-F.B.), Centre Hospitalier Chartres-Louis-Pasteur, Le-Coudray; Service de Dermatologie (P.L.), APHP, Hôpital Saint Louis; Service de Pneumologie et Oncologie Thoracique (J.C.), Centre de Compétences pour les Maladies Pulmonaires Rares, APHP, Hôpital Tenon, Sorbonne Universités; Sorbonne Université (N.W.), Brain Liver Pitié-Salpêtrière (BLIPS) Study Group, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Département de Neurologie, Unité de réanimation neurologique; Inserm UMR974 (Y.A., O.B.), Centre de recherche en myologie, Université Pierre-et-Marie-Curie, Sorbonnes Universités, Paris, France; and Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006124DOI Listing
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

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.

J Neuromuscul Dis 2017 ;4(1):1-15

Unité de Biologie Fonctionnelle et Adaptative, Université Paris Diderot, Sorbonne Paris Cité, CNRS, UMR, Paris, France.

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http://dx.doi.org/10.3233/JND-160203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345645PMC
March 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

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

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

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

[GNE myopathy: proven failure of sialic acid supplementation… what's next?]

Med Sci (Paris) 2017 Nov 15;33 Hors série n°1:55-56. Epub 2017 Nov 15.

Centres de référence des maladies neuromusculaires et SLA, CHU La Timone, Marseille, France - Pôle Neurosciences Cliniques, Aix-Marseille Université, France.

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http://dx.doi.org/10.1051/medsci/201733s111DOI 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

Focal necrotizing myopathy with 'dropped-head syndrome' induced by cobimetinib in metastatic melanoma.

Melanoma Res 2017 10;27(5):511-515

aAPHP, Dermatology Department bAPHP, Pharmacology Department cAPHP, Pharmacogenomic Laboratory dAPHP, Pathology Department eAPHP, Nuclear Medicine Department, Saint-Louis Hospital fAPHP, Neuropathology Laboratory gAPHP, Reference Center of Neuro-muscular Disease, Pitié Salpétrière Hospital hUniversité Paris VI Pierre et Marie Curie, Paris iINSERM U976 jINSERM U1165 kUniversité Paris Diderot-Paris VII, Sorbonne Paris Cité, France.

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http://dx.doi.org/10.1097/CMR.0000000000000377DOI Listing
October 2017

Coupling between skeletal muscle fiber size and capillarization is maintained during healthy aging.

J Cachexia Sarcopenia Muscle 2017 Aug 5;8(4):647-659. Epub 2017 Apr 5.

School of Healthcare Science, Manchester Metropolitan University, Chester Street, Manchester, M1 5GD, UK.

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http://dx.doi.org/10.1002/jcsm.12194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566646PMC
August 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

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

[GNE myopathy].

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:20-7. Epub 2015 Nov 6.

Praticien hospitalier, Institut de MyologieCHU Paris-GH La Pitié Salpêtrière, Centre de Référence de Pathologie Neuromusculaire Paris Est, France.

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http://dx.doi.org/10.1051/medsci/201531s306DOI Listing
November 2015

Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy.

Neuromuscul Disord 2015 Aug 30;25(8):632-9. Epub 2015 Apr 30.

EA 4497, Université de Versailles Saint Quentin en Yvelines, Versaillles, France; Physiologie - Explorations Fonctionnelles, APHP, Hôpital Raymond Poincaré, Garches, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.04.011DOI 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

Quickly progressive amyotrophy of the thigh: An unusual cause of rapid chondrolysis of the knee.

Joint Bone Spine 2015 May 11;82(3):203-5. Epub 2015 Feb 11.

Rheumatology department, Saint Antoine Hospital, AP-HP, Inflammation-Immunopathology-Biotherapy i2B (DHU i2B) Department, Sorbonne University Paris 06, UPMC University Paris 06, Inserm, UMR_S 938, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2014.12.013DOI Listing
May 2015

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Ann Clin Transl Neurol 2015 Apr 16;2(4):362-72. Epub 2015 Feb 16.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM F-75013, Paris, France ; APHP, Hôpital Pitié-Salpêtrière, Centre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie Paris, France.

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http://dx.doi.org/10.1002/acn3.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402082PMC
April 2015

Manual segmentation of individual muscles of the quadriceps femoris using MRI: a reappraisal.

J Magn Reson Imaging 2014 Jul 4;40(1):239-47. Epub 2013 Nov 4.

Institut de Myologie, UPMC UM 76, INSERM U 974, CNRS UMR 7215, GH Pitié-Salpêtrière, Paris, France.

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July 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632910PMC
May 2014

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

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

Antisynthetase syndrome with anti-Jo1 antibodies in 48 patients: pulmonary involvement predicts disease-modifying antirheumatic drug use.

J Rheumatol 2012 Sep 1;39(9):1835-9. Epub 2012 Aug 1.

Department of Internal Medicine, Institute of Myology, Université Pierre et Marie Curie, Assistance Publique-Hôpitaux de Paris, Service de Médecine Interne 1, Groupe Hospitalier Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.3899/jrheum.111604DOI Listing
September 2012

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.

J Neurol 2012 Jun 17;259(6):1222-6. Epub 2011 Dec 17.

Service de Neurologie Neurovasculaire, Groupe Hospitalier Paris-Saint Joseph, 185 rue Raymond Losserand, 75014 Paris, France.

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http://link.springer.com/content/pdf/10.1007/s00415-011-6340
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June 2012

Inflammatory myopathies with anti-Ku antibodies: a prognosis dependent on associated lung disease.

Medicine (Baltimore) 2012 Mar;91(2):95-102

Service de Médecine Interne 1, Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.

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March 2012

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

J Neurol 2011 Jun 30;258(6):1157-63. Epub 2011 Jan 30.

Centre de Référence des Maladies Neuromusculaires Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1007/s00415-011-5900-9DOI Listing
June 2011

Postirradiation neuromyotonia of spinal accessory nerves.

Neurology 2011 Mar;76(13):1188-9

Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière Hospital, Service de Neurologie Mazarin, 75013 Paris, France.

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http://dx.doi.org/10.1212/WNL.0b013e318212aab8DOI Listing
March 2011

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.

Hum Mutat 2010 Feb;31(2):136-42

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

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http://dx.doi.org/10.1002/humu.21160DOI Listing
February 2010

Neuropathies in the context of malignancies.

Curr Opin Neurol 2008 Oct;21(5):534-9

APHP, Centre de référence de pathologie neuromusculaire Paris-Est, Bâtiment Babinski, Fédération de Neurologie Mazarin, GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1097/WCO.0b013e32830f226dDOI Listing
October 2008

Severe neonatal myasthenia due to maternal anti-MuSK antibodies.

Neuromuscul Disord 2008 Jun 22;18(6):443-6. Epub 2008 Apr 22.

Centre de Référence des maladies rares neuromusculaires Paris-Est, Institut de Myologie, Service de Neurologie Mazarin, Groupe Hospitalier Pitié-Salpêtrière, APHP, 47-83 Boulevard de l'hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1016/j.nmd.2008.03.006DOI Listing
June 2008

Distal inflammatory myopathy: unusual presentation of polymyositis or new entity?

Neuromuscul Disord 2008 Jun 4;18(6):493-500. Epub 2008 Jun 4.

Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, APHP, INSERM U841, CHU Henri Mondor, 51 boulevard du Maréchal de Lattre de Tassigny, 94010 Créteil, France.

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http://dx.doi.org/10.1016/j.nmd.2008.04.015DOI Listing
June 2008

Multifocal motor neuropathy.

Curr Opin Neurol 2005 Oct;18(5):567-73

consutation de Pathologie Neuro-Musculaire, Babinski Building, Salpêtrière Hospital, Paris, France.

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http://dx.doi.org/10.1097/01.wco.0000175937.31569.15DOI Listing
October 2005

Complications of radiation therapy on the brain and spinal cord.

Semin Neurol 2004 Dec;24(4):405-17

Fédération de Neurologie Mazarin, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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https://www.thieme-connect.com/products/ejournals/pdf/10.105
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December 2004

Consent: a Cartesian ideal? Human neural transplantation in Parkinson's disease.

Med Law 2003 ;22(1):63-71

Laboratoire d'éthique médicale et de santé publique, Faculté de médecine Necker-Université Paris René Descartes, Paris, France.

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August 2003

Primary brain tumours in adults.

Lancet 2003 Jan;361(9354):323-31

Fédération de Neurologie Mazarin, G H Pitié-Salpêtrière, 75013, Paris, France.

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January 2003