Publications by authors named "Andoni Echaniz-Laguna"

100Publications

Risedronate-induced rhabdomyolysis in a patient with inflammatory myopathy.

Joint Bone Spine 2020 Nov 1:105090. Epub 2020 Nov 1.

Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, Le Kremlin- Bicêtre, France.

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November 2020

Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future.

Transl Res 2021 Jan 18;227:100-111. Epub 2020 Jul 18.

U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France. Electronic address:

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January 2021

Homozygous C-terminal loss-of-function Na1.4 variant in a patient with congenital myasthenic syndrome.

J Neurol Neurosurg Psychiatry 2020 08 2;91(8):898-900. Epub 2020 Jun 2.

Department of Neuromuscular disease, UCL Queen Sqaure Institute of Neurology, London, United Kingdom

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August 2020

Brentuximab vedotin treatment associated with acute and chronic inflammatory demyelinating polyradiculoneuropathies.

J Neurol Neurosurg Psychiatry 2020 07 23;91(7):786-788. Epub 2020 Apr 23.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Service de Neurologie 2-Mazarin et Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière (CRICM), UMRS 975, Paris 75013, France; Inserm U 975, CNRS, UMR 7225, Paris 75013, France, Paris, France.

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July 2020

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

Neurology 2020 03 27;94(9):e910-e920. 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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March 2020

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 07 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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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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May 2019

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

J Inherit Metab Dis 2019 09 8;42(5):803-808. Epub 2019 Apr 8.

Neurology Department, Hôpital Raymond Poincaré, Paris, France.

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September 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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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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November 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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June 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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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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May 2018

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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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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September 2017

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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November 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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July 2017

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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January 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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January 2018

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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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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August 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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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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January 2016

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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June 2015

Author response.

Neurology 2014 Nov;83(21):1991

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November 2014

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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January 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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February 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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February 2015

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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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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May 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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September 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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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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July 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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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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July 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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March 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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May 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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June 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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June 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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July 2011

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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July 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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February 2010

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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December 2008

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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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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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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February 2007

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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March 2006

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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March 2006