Jean Pouget

Jean Pouget

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Jean Pouget

Publications by authors named "Jean Pouget"

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Efficacy and Safety of Octagam® in Patients With Chronic Inflammatory Demyelinating Polyneuropathy.

Neurol Ther 2019 Jun 22;8(1):69-78. Epub 2019 Mar 22.

La Timone University Hospital,, Assistance Publique-Hôpitaux de Marseilles (APHM), 264 rue Saint Pierre, 13005, Marseille, France.

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http://dx.doi.org/10.1007/s40120-019-0132-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534624PMC
June 2019

[A dream becoming reality].

Authors:
Jean Pouget

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

Coordinateur de la filière de santé maladies rares neuromusculaires (Filnemus). Assistance Publique-Hôpitaux de Marseille (APHM), 80, rue Brochier, 13005 Marseille, France.

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http://dx.doi.org/10.1051/medsci/2019050DOI Listing
March 2019

[Diagnostic odyssey at the heart of the 3 National Initiative for Rare Disorders].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2. Epub 2018 Nov 12.

Coordinateur de la filière nationale Filnemus.

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http://dx.doi.org/10.1051/medsci/201834s201DOI Listing
November 2018

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:20-22. Epub 2018 Nov 12.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France - APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.

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https://www.medecinesciences.org/10.1051/medsci/201834s206
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http://dx.doi.org/10.1051/medsci/201834s206DOI Listing
November 2018

Motor unit number index correlates with disability in Charcot-Marie-Tooth disease.

Clin Neurophysiol 2018 07 16;129(7):1390-1396. Epub 2018 Apr 16.

Referral Center for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, Marseille, France; Aix-Marseille University, Inserm, GMGF, Marseille, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183065
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http://dx.doi.org/10.1016/j.clinph.2018.04.359DOI Listing
July 2018

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Mol Neurobiol 2017 11 29;54(9):7212-7223. Epub 2016 Oct 29.

Folkhälsan Institute of Genetics, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

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http://dx.doi.org/10.1007/s12035-016-0242-3DOI Listing
November 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

Predictive factors of efficacy of rituximab in patients with anti-MAG neuropathy.

J Neurol Sci 2017 Jun 12;377:144-148. Epub 2017 Apr 12.

Referral Centre for Neuromuscular Disorders and ALS, Hospital La Timone, Marseille, France.

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http://dx.doi.org/10.1016/j.jns.2017.04.015DOI Listing
June 2017

New strategy for improving the diagnostic sensitivity of repetitive nerve stimulation in myasthenia gravis.

Muscle Nerve 2017 04 3;55(4):532-538. Epub 2017 Jan 3.

Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, 264 rue Saint-Pierre, Marseille, Cedex, 05 13385, France.

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http://dx.doi.org/10.1002/mus.25374DOI Listing
April 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

Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1.

PLoS One 2015 16;10(7):e0132717. Epub 2015 Jul 16.

Centre de référence des maladies neuromusculaires et de la SLA, Centre hospitalier universitaire la Timone, Université Aix-Marseille, Marseille, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0132717PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504465PMC
April 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

J Neurol Neurosurg Psychiatry 2016 Mar 17;87(3):340-2. Epub 2015 Mar 17.

APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.

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http://dx.doi.org/10.1136/jnnp-2014-309663DOI Listing
March 2016

Motor unit number index (MUNIX): Is it relevant in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)?

Clin Neurophysiol 2016 Mar 12;127(3):1891-4. Epub 2015 Dec 12.

Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, France; Aix Marseille Université - Inserm UMR S 910, Medical Genetics and Functional Genomics, Marseille, France.

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http://dx.doi.org/10.1016/j.clinph.2015.12.002DOI Listing
March 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

Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case-control study.

Ther Clin Risk Manag 2016 2;12:135-8. Epub 2016 Feb 2.

Department of Neurology, La Timone Hospital, APHM, Aix-Marseille University, Marseille, France; Department of Internal Medicine, European Hospital, Marseille, France; Department of Neurology, La Casamance Hospital, Marseille, France.

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http://dx.doi.org/10.2147/TCRM.S99241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745837PMC
February 2016

Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy.

Muscle Nerve 2015 Nov 3;52(5):780-7. Epub 2015 Sep 3.

Centre de référence des maladies neuromusculaires et de la SLA, CHU la Timone, Marseille, France.

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http://dx.doi.org/10.1002/mus.24605DOI Listing
November 2015

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Ann Neurol 2015 Nov 31;78(5):831. Epub 2015 Aug 31.

Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.

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http://dx.doi.org/10.1002/ana.24464DOI Listing
November 2015

Paraneoplastic subacute lower motor neuron syndrome associated with solid cancer.

J Neurol Sci 2015 Nov 12;358(1-2):413-6. Epub 2015 Aug 12.

Reference Center for Neuromuscular Diseases and ALS, Hôpital de la Timone, Marseille, France.

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http://dx.doi.org/10.1016/j.jns.2015.08.014DOI Listing
November 2015

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.

Orphanet J Rare Dis 2015 Sep 4;10:109. Epub 2015 Sep 4.

National Reference Center for FAP (NNERF)/ APHP/ INSERM U 1191/ Hôpital de Bicêtre, 78, rue du General Leclerc, 94275, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1186/s13023-015-0326-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559363PMC
September 2015

Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease.

Muscle Nerve 2015 Aug 18;52(2):300-4. Epub 2015 Jun 18.

Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, Boulevard Jean Moulin, Marseille, Cedex 05, France.

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http://dx.doi.org/10.1002/mus.24618DOI Listing
August 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

Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.

Muscle Nerve 2015 Apr 9;51(4):541-8. Epub 2015 Jan 9.

Reference Centre for Neuromuscular Diseases and ALS, Department of Neurology and Neuromuscular Diseases, Centre Hospitalier Universitaire La Timone, 264 rue Saint-Pierre, 13385, Marseille, France; Inserm UMR_S 910 Medical Genetics and Functional Genomics, Aix-Marseille University, Marseilles, France.

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http://doi.wiley.com/10.1002/mus.24352
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http://dx.doi.org/10.1002/mus.24352DOI Listing
April 2015

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.

J Neurol Sci 2015 Apr 20;351(1-2):196-197. Epub 2015 Feb 20.

IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X150009
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http://dx.doi.org/10.1016/j.jns.2015.02.025DOI Listing
April 2015

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Neurobiol Aging 2014 Dec 24;35(12):2884.e1-2884.e4. Epub 2014 Jul 24.

IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.022DOI Listing
December 2014

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness.

Neurology 2014 Dec 5;83(23):2124-32. Epub 2014 Nov 5.

From the Department of Neurology (T.H.P.D., E.K.V., C.G.F., I.S.J.M.), University Medical Centre Maastricht; Department of Neurology (S.I.v.N., P.A.v.D.), Erasmus Medical Centre Rotterdam, the Netherlands; Department of Neurology (K.C.G.), St. Elizabeth's Medical Center, Tufts University School of Medicine, Boston, MA; Department of Neurology (W.L.V.d.P., N.C.N., L.H.v.d.B.), Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht, the Netherlands; Department of Neurological Sciences (E.N.-O.), Milan University, Humanitas Clinical Institute, Rozzano, Milan, Italy; Department of Neurology (J.M.L.), Hôpital de la Salpêtrière, Paris, France; Department of Neurology (P.Y.K.V.d.B.), Catholique University of Louvain, Belgium; Department of Clinical Neurosciences (G.L.), 3rd Neurology Unit, Milan, Italy; Department of Neurology (V.B., H.K.), Toronto General Hospital, Canada; Department of Neurology (M.P.T.L.), Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Neurology (J.P.), Centre de Référence des Maladies Neuromusculaires et de la SLA, Hôpital de La Timone, Marseille, France; Department of Neurology (A.J.v.d.K.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Neurology (A.F.H.), London Health Science Center, London, Canada; Department of Neurology (D.R.C.), Johns Hopkins School of Medicine, Baltimore, MD; and Department of Neurology (I.S.J.M.), Spaarne Hospital, Hoofddorp, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000001044DOI Listing
December 2014

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

JAMA Neurol 2014 Oct;71(10):1305-10

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France9Laboratoire de Génétique des Maladies Rar.

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http://dx.doi.org/10.1001/jamaneurol.2014.193DOI Listing
October 2014

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.

Neurobiol Aging 2014 Jan 15;35(1):266.e1-4. Epub 2013 Aug 15.

UMR INSERM U930, Université François-Rabelais, Tours, PRES Centre - Val de Loire Université, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.07.012DOI Listing
January 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

Neurological features in adult Triple-A (Allgrove) syndrome.

J Neurol 2012 Jan 9;259(1):39-46. Epub 2011 Jun 9.

Service d'ElectroNeuroMyographie et Pathologie Neuromusculaire, Hôpital Neurologique et Neurochirurgical Pierre Wertheimer, HCL, 59 Boulevard Pinel, 69677 Lyon, Bron Cedex, France.

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http://dx.doi.org/10.1007/s00415-011-6115-9DOI Listing
January 2012

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

Ann Neurol 2011 Oct;70(4):627-33

Assistance Publique-Hôpitaux de Marseille, Department of Medical Genetics, Timone Children's Hospital, Marseille, France.

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http://dx.doi.org/10.1002/ana.22513DOI Listing
October 2011

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Neuromuscul Disord 2011 Aug 2;21(8):556-62. Epub 2011 Jul 2.

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

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http://dx.doi.org/10.1016/j.nmd.2011.05.012DOI Listing
August 2011

Response to treatment in patients with Lewis-Sumner syndrome.

Muscle Nerve 2011 Aug;44(2):179-84

Department of Neurology and Neuromuscular Disorders, CHU La Timone, 264 rue St. Pierre, Marseille 13385, France.

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http://dx.doi.org/10.1002/mus.22024DOI Listing
August 2011

Progressive dementia associated with ataxia or obesity in patients with Tropheryma whipplei encephalitis.

BMC Infect Dis 2011 Jun 15;11:171. Epub 2011 Jun 15.

Unité des rickettsies, URMITE CNRS-IRD UMR 6236, IFR 48, Faculté de médecine, Université de la Méditerranée, Marseille, France.

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http://dx.doi.org/10.1186/1471-2334-11-171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141410PMC
June 2011

Clinical features and follow-up of four new cases of facial-onset sensory and motor neuronopathy.

Muscle Nerve 2011 Jan;43(1):136-40

Department of Neurology and Movement Disorders, CHU La Timone, Marseille, France.

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http://dx.doi.org/10.1002/mus.21884DOI Listing
January 2011

Acute motor and sensory axonal neuropathy and concomitant encephalopathy during tumor necrosis factor-alpha antagonist therapy.

J Neurol Sci 2010 Apr 8;291(1-2):103-6. Epub 2010 Feb 8.

Hôpital d'Instruction des Armées Sainte-Anne, Service de Neurologie, Boulevard Ste-Anne, BP 20545 83041 Toulon cedex 9, France; Service de Neurologie et Maladies Neuromusculaires, Centre de Référence national pour les Maladies Neuromusculaires et la SLA, Hôpital la Timone, 264 boulevard St-Pierre, 13385 Marseille cedex 05, France.

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http://dx.doi.org/10.1016/j.jns.2010.01.004DOI Listing
April 2010

A TPM3 mutation causing cap myopathy.

Neuromuscul Disord 2009 Oct 23;19(10):685-8. Epub 2009 Jun 23.

Department of Anatomic Pathology and Neuropathology, C.H.U. Timone, Marseille, France.

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http://dx.doi.org/10.1016/j.nmd.2009.06.365DOI Listing
October 2009

Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: a multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial.

Clin Ther 2009 Aug;31(8):1765-73

Center for Neuromuscular Disease, Intensive Care Unit and Sleep Laboratory and Functional Exploration Department, Raymond Poincaré Hospital, Paris Ile de France Ouest, Versailles Saint Quentin University, 92380 Garches, France.

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http://dx.doi.org/10.1016/j.clinthera.2009.08.007DOI Listing
August 2009

Changes in cortically induced inhibition in amyotrophic lateral sclerosis with time.

Muscle Nerve 2009 Mar;39(3):310-7

Department of Neurology and Neuromuscular Diseases, CHU La Timone, 264 rue Saint-Pierre, 13385 Marseille, France.

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http://dx.doi.org/10.1002/mus.21137DOI Listing
March 2009

Enteral and parenteral nutrition in the later stages of ALS: an observational study.

Amyotroph Lateral Scler 2009 Feb;10(1):42-6

Centre de référence pour la prise en charge des maladies neuro-musculaires et la SLA, Hôpital de la Timone, Marseille, France.

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http://dx.doi.org/10.1080/17482960802267480DOI Listing
February 2009

[From muscular disease to myology].

Authors:
Jean Pouget

Rev Prat 2008 Dec;58(20):2227-8

Centre de référence des maladies musculaires et de la SLA, hôpital de La Timone, 13005 Marseille, France.

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December 2008

[A new type of periodic paralysis: Andersen-Tawil syndrome].

Authors:
Jean Pouget

Bull Acad Natl Med 2008 Nov;192(8):1551-6; discussion 1556-7

Centre de Référence des maladies neuromusculaires et de la SLA, Hôpital de La Timone, 264, rue Saint-Pierre, Marseille.

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November 2008

Progression of cortical and spinal dysfunctions over time in amyotrophic lateral sclerosis.

Muscle Nerve 2008 Mar;37(3):364-75

Department of Neurology and Neuromuscular Diseases CHU La Timone, 264 rue Saint-Pierre, 13385 Marseille, France.

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http://dx.doi.org/10.1002/mus.20942DOI Listing
March 2008

Magnetic stimulation including the triple-stimulation technique in amyotrophic lateral sclerosis.

Muscle Nerve 2007 Jul;36(1):55-61

Department of Neurology and Neuromuscular Diseases, CHU La Timone, 264 rue Saint-Pierre, 13385 Marseille, France.

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http://dx.doi.org/10.1002/mus.20789DOI Listing
July 2007

Triple-stimulation technique in multifocal neuropathy with conduction block.

Muscle Nerve 2007 May;35(5):632-6

Department of Neurology and Neuromuscular Diseases, CHU La Timone, 264 rue Saint-Pierre, 13385 Marseilles, France.

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http://doi.wiley.com/10.1002/mus.20742
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http://dx.doi.org/10.1002/mus.20742DOI Listing
May 2007

Gait recovery in a distal spinal muscular atrophy patient wearing a patellar tendon-bearing orthosis and orthopaedic shoes.

J Rehabil Med 2007 Mar;39(2):181-4

Department of Physical and Rehabilitation Medicine, Faculty of Medicine, University of the Mediterranean, Public Hospital System of Marseilles, Marseilles, France.

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http://dx.doi.org/10.2340/16501977-0025DOI Listing
March 2007