Tanya Stojkovic

Tanya Stojkovic

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Tanya Stojkovic

Publications by authors named "Tanya Stojkovic"

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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

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

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 Jun 3. 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, 75006 Paris, France; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.

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

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

Ann Clin Transl Neurol 2019 Jun 16;6(6):1033-1045. Epub 2019 May 16.

The John Walton Muscular Dystrophy Research Centre Institute of Genetic Medicine Newcastle University Newcastle Hospitals NHS Foundation Trust Central Parkway Newcastle Upon Tyne United Kingdom NE1 4EP.

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http://dx.doi.org/10.1002/acn3.774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562036PMC
June 2019

FSHD1 and FSHD2 form a disease continuum.

Neurology 2019 May 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 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

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

Neuromuscul Disord 2019 Jan 8;29(1):75-79. Epub 2018 Nov 8.

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

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183115
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http://dx.doi.org/10.1016/j.nmd.2018.10.005DOI Listing
January 2019

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

Neurol Neuroimmunol Neuroinflamm 2019 Jan 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

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology 2019 Jan 9. Epub 2019 Jan 9.

From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369904PMC
January 2019

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

Neuromuscul Disord 2018 Dec 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 Nov 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

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
November 2018

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

Circulation 2018 Sep;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

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.

J Clin Lipidol 2018 Nov - Dec;12(6):1420-1435. Epub 2018 Jul 25.

Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France.

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http://dx.doi.org/10.1016/j.jacl.2018.07.009DOI 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

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Neurogenetics 2018 05 2;19(2):67-76. Epub 2018 Feb 2.

Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10048-018-0539-7DOI 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

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

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

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

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

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

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.

Nat Commun 2017 11 30;8(1):1859. Epub 2017 Nov 30.

NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1038/s41467-017-01486-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709430PMC
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

Diagnosis of unilateral trapezius muscle palsy: 54 Cases.

Muscle Nerve 2017 08 27;56(2):215-223. Epub 2017 Feb 27.

Département de Neurophysiologie Clinique, Hôpital de la Pitié-Salpétrière, Paris, France.

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http://dx.doi.org/10.1002/mus.25481DOI Listing
August 2017

Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.

Clin Chim Acta 2017 Jul 27;470:70-74. Epub 2017 Apr 27.

AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat, Paris, France; Université Paris Descartes, France.

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http://dx.doi.org/10.1016/j.cca.2017.04.022DOI Listing
July 2017

High intra-familiar clinical variability in MORC2 mutated CMT2 patients.

Brain 2017 04;140(4):e21

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

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http://dx.doi.org/10.1093/brain/awx019DOI Listing
April 2017

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

Neuromuscul Disord 2017 Jan 14;27(1):78-82. Epub 2016 Oct 14.

Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2016.10.006DOI Listing
January 2017

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

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

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

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

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Neurol Genet 2016 Aug 4;2(4):e89. Epub 2016 Aug 4.

The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital

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http://dx.doi.org/10.1212/NXG.0000000000000089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994875PMC
August 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

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

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

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

Chronic inflammatory demyelinating polyradiculoneuropathy: search for factors associated with treatment dependence or successful withdrawal.

J Neurol Neurosurg Psychiatry 2014 Aug 5;85(8):901-6. Epub 2013 Dec 5.

Département de Neurophysiologie Clinique, Groupe Hospitalier Pitié-Salpêtrière Paris, Université Pierre et Marie Curie-Paris VI, AP-HP, Paris, France Centre diagnostique et thérapeutique des neuropathies périphériques, Département de Neurophysiologie et Service de Neurologie 1, Groupe Hospitalier Pitié-Salpêtriére Paris, Université Pierre et Marie Curie-Paris VI, AP-HP, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2013-306105DOI Listing
August 2014

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

JAMA Neurol 2014 Aug;71(8):1036-42

Département de Génétique et de Cytogénétique, GH Pitié-Salpêtrière, AP-HP, Paris, France7Institut National de la Santé et de la Recherche Médicale U 1127, Institut du Cerveau et de la Moelle Epiniere, Hôpital Pitié-Salpêtrière, Paris, France8Université Pi.

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http://dx.doi.org/10.1001/jamaneurol.2014.629DOI Listing
August 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

Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients.

J Neurol Sci 2014 Jan 29;336(1-2):155-60. Epub 2013 Oct 29.

Centre de Référence des Maladies Neuromusculaires et de la SLA, CHU La Timone, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2013.10.029DOI Listing
January 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

Sensory chronic inflammatory demyelinating polyneuropathy: an under-recognized entity?

Muscle Nerve 2013 Nov 30;48(5):727-32. Epub 2013 Aug 30.

Service de Neurologie, CHU Montpellier, Hôpital Gui de Chauliac, 34295, Montpellier, France.

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http://dx.doi.org/10.1002/mus.23821DOI Listing
November 2013

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.

J Clin Endocrinol Metab 2013 Jul 18;98(7):E1235-40. Epub 2013 Jun 18.

Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1210/jc.2013-1651DOI Listing
July 2013

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.

Mol Genet Metab 2013 Feb 28;108(2):125-31. Epub 2012 Dec 28.

AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.12.004DOI Listing
February 2013

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

Heterogeneous spectrum of neuropathies in Waldenström's macroglobulinemia: a diagnostic strategy to optimize their management.

J Peripher Nerv Syst 2012 Mar;17(1):90-101

Département de Neurophysiologie Clinique, Hôpital de la Salpêtrière, 47 bd de l'Hôpital, Paris Cedex 13, France.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00376.xDOI Listing
March 2012

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

J Peripher Nerv Syst 2012 Mar;17(1):112-22

APHP, Center for reference of neuromuscular diseases Paris-Est, Institut de Myologie, Hôpital de la Pitié-Salpêtrière, 47-83 boulevard de l'hôpital, Paris, France.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00382.xDOI Listing
March 2012

Long-term observational study of sporadic inclusion body myositis.

Brain 2011 Nov 12;134(Pt 11):3176-84. Epub 2011 Oct 12.

Assistance Publique-Hôpitaux de Paris, Centre de Référence des Pathologies Neuromusculaires Paris Est, Institut de Myologie, 75013 Paris, France.

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http://brain.oxfordjournals.org/content/brain/134/11/3176.fu
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http://dx.doi.org/10.1093/brain/awr213DOI Listing
November 2011

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Acta Neuropathol 2011 Feb 7;121(2):253-66. Epub 2010 Oct 7.

Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-010-0754-2DOI Listing
February 2011

Morphologic imaging in muscular dystrophies and inflammatory myopathies.

Skeletal Radiol 2010 Dec 7;39(12):1219-27. Epub 2010 May 7.

Clinique neurologique, CHU de Lille, Lille, France.

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http://dx.doi.org/10.1007/s00256-010-0930-4DOI Listing
December 2010

Permanent muscle weakness in McArdle disease.

Muscle Nerve 2009 Sep;40(3):350-7

Institute of Myology, Pitié-Salpêtrière Hospital, 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://doi.wiley.com/10.1002/mus.21351
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September 2009