Andoni Echaniz-Laguna

Andoni Echaniz-Laguna

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Andoni Echaniz-Laguna

Andoni Echaniz-Laguna

Publications by authors named "Andoni Echaniz-Laguna"

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Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Hum Mutat 2020 Jan 15;41(1):17-37. Epub 2019 Sep 15.

Department of translational medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

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http://dx.doi.org/10.1002/humu.23899DOI Listing
January 2020

Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis.

Neurology 2019 Dec 27. Epub 2019 Dec 27.

From the Département d'Immunologie Clinique et Médecine Interne (Y.D.) and Département de Rhumatologie (J.-E.G., J.S., A.M.), Centre de Référence des Maladies Auto-immunes Rares, Département d'Immunobiologie (B.N.), Département de Pathologie (B.L.), Département de Neurologie, Centre de Référence des Maladies Neuro-musculaires (A.E.-L.), and Institut de Physiologie EA 3072, Service de Physiologie et d'Explorations Fonctionnelles (B.G., A.M.), Hôpitaux Universitaires de Strasbourg; Département de Médecine Interne et Immunologie Clinique (Y.A., O.B., B.H., K.M.), Centre de Référence des Maladies Neuro-Musculaires Paris Est, Assistance Publique-Hôpitaux de Paris (AP-HP), DHU I2B, Sorbonne Universités UPMC Univ Paris 06, Inserm, UMR 974, Centre de Recherche en Myologie, Hôpital Universitaire Pitié-Salpêtrière; Département de Neuropathologie (S.L.-L.), Centre de Référence des Maladies Neuro-Musculaires Paris Est, Hôpital Universitaire Pitié-Salpêtrière; Fédération de Médecine Translationnelle de Strasbourg (B.L., J.-E.G., B.G., J.S., A.M.), Université de Strasbourg; Département de Rhumatologie (D.W.), Hôpital Universitaire de Besançon, France; Département de Rhumatologie (C.V.F.), Hôpital Universitaire Sart-Tilman, Liège, Belgium; Departement de Rhumatologie (N.P.), Hôpital Universitaire de Bordeaux; Departement de Médicine Interne (E.M.), Hôpital Universitaire Louis Mourier, Colombes; Departement de Médicine Interne et Maladies Vasculaires (C.L.), Hôpital Universitaire d'Angers; Departement de Médicine Interne (O.H.), Hôpital Emile Muller, Mulhouse; Departement de Médicine Interne (J.M.), Hôpital Universitaire de Tours, France.

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http://dx.doi.org/10.1212/WNL.0000000000008863DOI Listing
December 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

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

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 cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.

J Peripher Nerv Syst 2019 03 8;24(1):120-124. Epub 2019 Feb 8.

Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

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http://doi.wiley.com/10.1111/jns.12308
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http://dx.doi.org/10.1111/jns.12308DOI Listing
March 2019

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

Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis.

BMJ Case Rep 2018 Jun 11;2018. Epub 2018 Jun 11.

Neurologie, Hopitaux universitaires de Strasbourg, Strasbourg, France.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22427
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http://dx.doi.org/10.1136/bcr-2018-224272DOI Listing
June 2018

Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.

BMJ Case Rep 2018 Jun 28;2018. Epub 2018 Jun 28.

Neurologie, Hopitaux universitaires de Strasbourg, Strasbourg, France.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22505
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http://dx.doi.org/10.1136/bcr-2018-225059DOI Listing
June 2018

Benign acute myositis in an adult patient.

BMJ Case Rep 2018 May 29;2018. Epub 2018 May 29.

Neurologie, Hopitaux universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1136/bcr-2017-223493DOI Listing
May 2018

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Muscle Nerve 2018 Jan 21;57(1):157-160. Epub 2017 Mar 21.

Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67098, Strasbourg, France.

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http://dx.doi.org/10.1002/mus.25588DOI Listing
January 2018

Inflammatory myopathies: A new landscape.

Joint Bone Spine 2018 01 22;85(1):23-33. Epub 2017 Mar 22.

Service de rhumatologie, hôpitaux universitaires de Strasbourg, 67000 Strasbourg, France; Centre de référence des maladies auto-immunes rares, hôpitaux universitaires de Strasbourg, 67000 Strasbourg, France; Fédération de médecine translationnelle de Strasbourg, université de Strasbourg, 67000 Strasbourg, France.

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http://dx.doi.org/10.1016/j.jbspin.2017.03.005DOI Listing
January 2018

Ability of pulmonary function decline to predict death in amyotrophic lateral sclerosis patients.

Amyotroph Lateral Scler Frontotemporal Degener 2017 11 20;18(7-8):511-518. Epub 2017 Jul 20.

a Department of Physiology and Pulmonary Function Tests, Chest diseases , University Hospital of Strasbourg and EA 3072, Federation of Translational Medicine, Strasbourg University , Strasbourg Cedex , France.

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http://dx.doi.org/10.1080/21678421.2017.1353097DOI Listing
November 2017

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Brain 2017 Oct;140(10):2541-2549

Peripheral Neuropathy Research Group, Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.

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http://academic.oup.com/brain/article/140/10/2541/4082543
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http://dx.doi.org/10.1093/brain/awx187DOI Listing
October 2017

Dilation of epidural space and posterior soft tissue veins in Hirayama disease.

BMJ Case Rep 2017 Sep 11;2017. Epub 2017 Sep 11.

Département de Radiologie, Hopitaux universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1136/bcr-2017-220787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623204PMC
September 2017

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

Acta Neuropathol 2017 07 13;134(1):163-165. Epub 2017 May 13.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-017-1724-8DOI Listing
July 2017

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

J Peripher Nerv Syst 2016 12;21(4):365-369

PREMMi/Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.

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http://dx.doi.org/10.1111/jns.12192DOI Listing
December 2016

Electromyography and muscle biopsy in chronic isolated Myalgia: A prospective study.

Muscle Nerve 2016 08 25;54(2):321-4. Epub 2016 May 25.

Département de Neurologie, Hôpitaux Universitaires, 1, Avenue Molière, 67098, Strasbourg, France.

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http://dx.doi.org/10.1002/mus.25160DOI Listing
August 2016

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

J Neuromuscul Dis 2016 05;3(2):275-281

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.3233/JND-150143DOI Listing
May 2016

Identifying a therapeutic window in acute and subacute inflammatory sensory neuronopathies.

J Neurol Sci 2016 Feb 29;361:187-91. Epub 2015 Dec 29.

Centre de Référence Maladies Neuromusculaires Rares Rhône-Alpes, CHU de Saint-Etienne, France; Université de Lyon, Saint-Etienne, France; INSERM U1028, Centre des Neurosciences de Lyon, Lyon, France.

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http://dx.doi.org/10.1016/j.jns.2015.12.044DOI Listing
February 2016

Statins Trigger Mitochondrial Reactive Oxygen Species-Induced Apoptosis in Glycolytic Skeletal Muscle.

Antioxid Redox Signal 2016 Jan;24(2):84-98

1 Fédération de Médecine Translationelle, Faculté de Médecine, Institut de Physiologie, Université de Strasbourg , Strasbourg, France .

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https://www.researchgate.net/profile/Bernard_Geny/publicatio
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http://dx.doi.org/10.1089/ars.2014.6190DOI Listing
January 2016

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Clin Neurophysiol 2015 Jul 20;126(7):1435-9. Epub 2014 Oct 20.

Laboratoire de Génétique Médicale, INSERM 1112, Faculté de Médecine, F-67085 Strasbourg, France.

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http://dx.doi.org/10.1016/j.clinph.2014.10.014DOI Listing
July 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

Dalfampridine in hereditary spastic paraplegia: a prospective, open study.

J Neurol 2015 May 26;262(5):1285-8. Epub 2015 Mar 26.

Département de Neurologie, CHRU de Besançon, Besançon, France.

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http://dx.doi.org/10.1007/s00415-015-7707-6DOI Listing
May 2015

Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis.

Neuromuscul Disord 2015 Feb 28;25(2):149-52. Epub 2014 Sep 28.

Hôpital de Hautepierre, Centre de Référence des Maladies Auto-immunes Rares, Service de Rhumatologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2014.09.009DOI Listing
February 2015

Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts.

J Neurol 2015 Feb 2;262(2):473-5. Epub 2014 Dec 2.

Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098, Strasbourg, France,

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http://dx.doi.org/10.1007/s00415-014-7582-6DOI Listing
February 2015

Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS).

J Neurol 2015 Jan 9;262(1):226-7. Epub 2014 Dec 9.

Département de Neurologie, Hôpitaux Universitaires de Strasbourg, 1 avenue Molière, 67098, Strasbourg, France,

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http://dx.doi.org/10.1007/s00415-014-7597-zDOI Listing
January 2015

Author response.

Neurology 2014 Nov;83(21):1991

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November 2014

Early electrodiagnostic abnormalities in acute inflammatory demyelinating polyneuropathy: a retrospective study of 58 patients.

Clin Neurophysiol 2014 Sep 27;125(9):1900-5. Epub 2014 Jan 27.

Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.clinph.2014.01.007DOI Listing
September 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/content/82/21/1919.full.pdf
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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

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology 2013 Oct 11;81(17):1523-30. Epub 2013 Sep 11.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; INSERM U692 (A.E.-L.), Université de Strasbourg, France; Unit of Molecular Neurogenetics (D.G., L.M., M.Z.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Service des Maladies Héréditaires du Métabolisme (M.C., M.M., S.P., B.M.deC.), Centre de Biotechnologie Cellulaire (I.R.), Unité de Cardiogénétique Moléculaire (D.B.), and Service de Neurobiologie (P.L.), Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France; and Département d'Anatomopathologie (B.L.), Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182a4a518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888171PMC
October 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

Asthma as a cause of persistent dyspnea in treated myasthenia gravis patients.

Eur Neurol 2012 9;68(5):300-3. Epub 2012 Oct 9.

Département de Neurologie, Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1159/000341834DOI Listing
June 2013

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.

J Neurol Neurosurg Psychiatry 2013 Apr 15;84(4):392-7. Epub 2012 Dec 15.

Department de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 1 avenue Molière, Strasbourg 67000, France.

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http://dx.doi.org/10.1136/jnnp-2012-303725DOI Listing
April 2013

Chronic inflammatory demyelinating polyradiculoneuropathy in solid organ transplant recipients: a prospective study.

J Neurol Neurosurg Psychiatry 2012 Jul 10;83(7):699-705. Epub 2012 May 10.

Département de Neurologie, Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1136/jnnp-2012-302374DOI Listing
July 2012

Telomere length and regulatory proteins in human skeletal muscle with and without ongoing regenerative cycles.

Exp Physiol 2012 Jun 24;97(6):774-84. Epub 2012 Feb 24.

School of Health and Medical Sciences, University of Örebro, 70182 Örebro, Sweden.

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http://dx.doi.org/10.1113/expphysiol.2011.063818DOI Listing
June 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Mitochondrial myopathy caused by arsenic trioxide therapy.

Blood 2012 May 16;119(18):4272-4. Epub 2012 Mar 16.

Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre,1 Avenue Molière, Strasbourg Cedex, France.

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http://dx.doi.org/10.1182/blood-2011-10-385138DOI Listing
May 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

Neurological picture. Seeing the blocks: MRI of the brachial plexus in multifocal motor neuropathy.

J Neurol Neurosurg Psychiatry 2011 Jul 22;82(7):728. Epub 2011 Mar 22.

Département de Neurologie, Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1136/jnnp.2010.239210DOI Listing
July 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

TDP43-positive intraneuronal inclusions in a patient with motor neuron disease and Parkinson's disease.

Neurodegener Dis 2010 27;7(4):260-4. Epub 2010 Feb 27.

Department of Neurology, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1159/000273591DOI Listing
January 2011

POLG1 variations presenting as multiple sclerosis.

Arch Neurol 2010 Sep;67(9):1140-3

Département de Neurologie, Hôpital Civil, 67091 Strasbourg, France.

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http://dx.doi.org/10.1001/archneurol.2010.219DOI Listing
September 2010

Myopathies in the elderly: a hospital-based study.

Neuromuscul Disord 2010 Jul 1;20(7):443-7. Epub 2010 Jun 1.

Département de Neurologie, Hôpital Civil, BP 426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2010.05.003DOI Listing
July 2010

A novel variation in the Twinkle linker region causing late-onset dementia.

Neurogenetics 2010 Feb 10;11(1):21-5. Epub 2009 Jun 10.

Département de Neurologie, Hôpital Civil, BP 426, 67091, Strasbourg, France,

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http://dx.doi.org/10.1007/s10048-009-0202-4DOI Listing
February 2010

Muscle phosphorylase b kinase deficiency revisited.

Neuromuscul Disord 2010 Feb 18;20(2):125-7. Epub 2010 Jan 18.

Département de Neurologie, Hôpital Civil, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2009.11.004DOI Listing
February 2010

Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.

Muscle Nerve 2009 Jul;40(1):55-61

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

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http://dx.doi.org/10.1002/mus.21253DOI Listing
July 2009

Teaching neuroimages: Chronic inflammatory demyelinating polyradiculoneuropathy causing spinal cord compression.

Neurology 2009 Jun;72(24):e121

Département de Neurologie, Hôpital Civil, Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0b013e3181aa5352DOI Listing
June 2009

Diffusion-weighted MRI of denervated muscle: a clinical and experimental study.

Skeletal Radiol 2008 Dec 6;37(12):1111-7. Epub 2008 Aug 6.

Service de Radiologie 2, Hôpitaux Universitaires de Strasbourg, Avenue Molière, 67098, Strasbourg, France.

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http://dx.doi.org/10.1007/s00256-008-0552-2DOI Listing
December 2008

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Neuromuscul Disord 2007 Dec 6;17(11-12):955-9. Epub 2007 Sep 6.

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

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http://dx.doi.org/10.1016/j.nmd.2007.06.467DOI Listing
December 2007

Muscle Nogo-A expression is a prognostic marker in lower motor neuron syndromes.

Ann Neurol 2007 Jul;62(1):15-20

Fédération des Maladies du Système Nerveux, Centre référent maladie rare SLA, Hôpital de la Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651 Paris, France.

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http://dx.doi.org/10.1002/ana.21122DOI Listing
July 2007

Amyotrophic lateral sclerosis: all roads lead to Rome.

J Neurochem 2007 Jun 23;101(5):1153-60. Epub 2007 Jan 23.

Inserm, U692, Laboratoire de Signalisations Moléculaires et Neurodégénérescence, Université Louis Pasteur, Faculté de Médecine, UMRS692, Strasbourg, France.

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http://dx.doi.org/10.1111/j.1471-4159.2006.04408.xDOI Listing
June 2007

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.

Neuromuscul Disord 2007 Feb 4;17(2):163-8. Epub 2006 Dec 4.

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

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http://dx.doi.org/10.1016/j.nmd.2006.10.002DOI Listing
February 2007

Muscular mitochondrial function in amyotrophic lateral sclerosis is progressively altered as the disease develops: a temporal study in man.

Exp Neurol 2006 Mar 29;198(1):25-30. Epub 2005 Aug 29.

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

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http://dx.doi.org/10.1016/j.expneurol.2005.07.020DOI Listing
March 2006

A study of three patients with amyotrophic lateral sclerosis and a polyneuropathy resembling CIDP.

Muscle Nerve 2006 Mar;33(3):356-62

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

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http://dx.doi.org/10.1002/mus.20475DOI Listing
March 2006

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

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

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

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

Nogo expression in muscle correlates with amyotrophic lateral sclerosis severity.

Ann Neurol 2005 Apr;57(4):553-6

Laboratoire de Signalisations Moléculaires et Neurodégénérescence, Université Louis Pasteur, Strasbourg, France.

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http://dx.doi.org/10.1002/ana.20420DOI Listing
April 2005

Chronic inflammatory demyelinating polyradiculoneuropathy in patients with liver transplantation.

Muscle Nerve 2004 Oct;30(4):501-4

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP 426, 67091, France.

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http://dx.doi.org/10.1002/mus.20086DOI Listing
October 2004

A carpenter with dementia.

Lancet 2003 Nov;362(9396):1647

Service des Maladies du Système Nerveux et du Muscle, Clinique Neurologique, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091, Strasbourg, France.

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http://dx.doi.org/10.1016/S0140-6736(03)14799-XDOI Listing
November 2003

Mitochondrial respiratory chain function in skeletal muscle of ALS patients.

Ann Neurol 2002 Nov;52(5):623-7

Service des Maladies du Système Nerveux et du Muscle, Clinique Neurologique, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP 426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1002/ana.10357DOI Listing
November 2002