Claude Desnuelle

Claude Desnuelle

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Claude Desnuelle

Claude Desnuelle

Publications by authors named "Claude Desnuelle"

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Phenotypic and genotypic studies of ALS cases in ALS-SMA families.

Amyotroph Lateral Scler Frontotemporal Degener 2018 08 1;19(5-6):432-437. Epub 2018 Mar 1.

k Clinique du Motoneurone, Explorations neurologiques, CHU Gui de Chauliac , Université de Montpellier , Montpellier , France.

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http://dx.doi.org/10.1080/21678421.2018.1440406DOI Listing
August 2018

Brain computer interface with the P300 speller: Usability for disabled people with amyotrophic lateral sclerosis.

Ann Phys Rehabil Med 2018 Jan 10;61(1):5-11. Epub 2017 Oct 10.

Équipe projet Athena, Inria Sophia Antipolis-Méditerranée, 2004, route des Lucioles, 06902 Sophia Antipolis, France; Université de Côte d'Azur, Côte d'Azur, France.

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http://dx.doi.org/10.1016/j.rehab.2017.09.004DOI Listing
January 2018

First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.

Neuromuscul Disord 2017 Oct 20;27(10):951-955. Epub 2017 Jun 20.

University Hospital of Nice, Cote d'Azur University, France.

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http://dx.doi.org/10.1016/j.nmd.2017.06.010DOI Listing
October 2017

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

Muscle Nerve 2017 07 30;56(1):167-170. Epub 2016 Nov 30.

Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France.

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http://dx.doi.org/10.1002/mus.25478DOI Listing
July 2017

Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

Am J Phys Med Rehabil 2017 Apr;96(4):e56-e63

From the Université Côte d'Azur, LAMHESS, Nice, France (A-CMD, MF-M, SSC); Department of Neuroscience, Norwegian University of Science and Technology (NTNU), Trondheim, Norway (A-CMD, KR); Université Côte d'Azur, CHU (JG, PL, VT, MF-M, CD, SS); and Université Côte d'Azur, CNRS, INSERM, IRCAN (CD, SS), Nice, France.

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http://Insights.ovid.com/crossref?an=00002060-201704000-0000
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http://dx.doi.org/10.1097/PHM.0000000000000705DOI Listing
April 2017

Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).

J Neurol 2017 Mar 24;264(3):589-590. Epub 2017 Jan 24.

Neuromuscular Diseases Centre, Department of Clinical Neurosciences, University Hospital of Nice (CHU), Nice, France.

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http://dx.doi.org/10.1007/s00415-017-8396-0DOI Listing
March 2017

Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomised controlled triple-blind trial.

Lancet Neurol 2016 Nov 11;15(12):1217-1227. Epub 2016 Oct 11.

Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique, Paris, France; AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Service de Pneumologie et Réanimation Médicale (Département "R3S"), Paris, France.

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http://dx.doi.org/10.1016/S1474-4422(16)30233-2DOI Listing
November 2016

Therapeutic target of memory B cells depletion helps to tailor administration frequency of rituximab in myasthenia gravis.

J Neuroimmunol 2016 09 11;298:79-81. Epub 2016 Jul 11.

Service d'Immunologie, Hôpital de l'Archet 1, Avenue saint Antoine de Ginestière, 06000 Nice, France.

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http://dx.doi.org/10.1016/j.jneuroim.2016.07.009DOI Listing
September 2016

Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?

Neuromuscul Disord 2016 06 29;26(6):342-6. Epub 2016 Mar 29.

APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.03.004DOI Listing
June 2016

[Expert centers and network in the care organization of ALS patients].

Authors:
Claude Desnuelle

Rev Prat 2016 May;66(5):569

Centre de référence SLA, CHU de Nice, pôle neurosciences, hôpital Pasteur 2, Nice, France.

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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

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

Stem Cells Dev 2016 Jan 30;25(2):151-9. Epub 2015 Dec 30.

1 UMR7370 CNRS, LP2M, Labex ICST, Faculté de Médecine, University Nice Sophia Antipolis , Nice, France .

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http://dx.doi.org/10.1089/scd.2015.0258DOI Listing
January 2016

Deciphering spreading mechanisms in amyotrophic lateral sclerosis: clinical evidence and potential molecular processes.

Curr Opin Neurol 2015 Oct;28(5):455-61

aDépartement des Maladies du Système Nerveux, AP-HP, Groupe hospitalier Pitié-Salpêtrière bSorbonne Universités Paris VI, UPMC CNRS INSERM, Laboratoire d'Imagerie Biomédicale (LIB) cSorbonne Universités Paris VI, UMR CNRS 1127 UPMC dINSERM U 1127, CNRS UMR 7225 eInstitut du Cerveau et de la Moelle épinière - ICM, Paris fCentre de Référence SLA- Pôle Neurosciences Cliniques, CHU de Nice, Hôpital Pasteur 2 gCNRS UMR 7284 INSERM U1081 IRCAN - Université de Nice-Sophia - Faculté de Médecine, Nice, France.

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http://dx.doi.org/10.1097/WCO.0000000000000239DOI Listing
October 2015

Facioscapulohumeral muscular dystrophy.

Biochim Biophys Acta 2015 Apr 29;1852(4):607-14. Epub 2014 May 29.

Centre de référence des Maladies Neuromusculaires, Hôpital Archet 1, 151, route de Saint Antoine de Ginestière, 06202 Nice, France; CNRS UMR7277, Inserm U1091, iBV - Institute of Biology Valrose, UNS Université Nice Sophia-Antipolis, Faculté de Médecine, 28 Avenue Valombrose, 06189 Nice Cedex, France.

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http://dx.doi.org/10.1016/j.bbadis.2014.05.021DOI Listing
April 2015

The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.

Hum Mol Genet 2015 Jan 8;24(2):471-9. Epub 2014 Sep 8.

University Nice Sophia Antipolis, Nice, France Laboratory of Excellence Ion Channel Science and Therapeutics, LP2M, UMR 7370 CNRS, Nice, France Faculté de Médecine, Nice, France

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu462DOI Listing
January 2015

Improving the detection of IgM antibodies against glycolipids complexes of GM1 and Galactocerebroside in Multifocal Motor Neuropathy using glycoarray and ELISA assays.

J Neuroimmunol 2015 Jan 8;278:159-61. Epub 2014 Nov 8.

Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, United Kingdom.

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http://dx.doi.org/10.1016/j.jneuroim.2014.11.001DOI Listing
January 2015

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

Neuromuscul Disord 2014 Jul 24;24(7):648-50. Epub 2014 Apr 24.

Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2014.04.005DOI Listing
July 2014

Evolution of quality of life, mental health, and coping strategies in amyotrophic lateral sclerosis: a pilot study.

J Palliat Med 2012 Nov 5;15(11):1181-4. Epub 2012 Oct 5.

Université de Lorraine, Lorraine, France.

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http://dx.doi.org/10.1089/jpm.2012.0162DOI Listing
November 2012

The impact of active coping strategies on survival in ALS: the first pilot study.

Amyotroph Lateral Scler 2012 Oct 12;13(6):599-601. Epub 2012 Aug 12.

Université de Lorraine (France), APEMAC, EA 4360, France.

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http://dx.doi.org/10.3109/17482968.2012.711835DOI Listing
October 2012

A novel CRYAB mutation resulting in multisystemic disease.

Neuromuscul Disord 2012 Jan 14;22(1):66-72. Epub 2011 Sep 14.

Centre de Référence des Maladies Neuromusculaires, Nice Hospital and UMR CNRS6543, Nice University, Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2011.07.004DOI Listing
January 2012

Challenges in diagnosis and treatment of late-onset Pompe disease.

Curr Opin Neurol 2011 Oct;24(5):443-8

Reference Centre for Neuromuscular Diseases, Department of Neurology, University Hospital of Nice and UMR CNRS/UNSA 6543, France.

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http://dx.doi.org/10.1097/WCO.0b013e32834a1e00DOI Listing
October 2011

Chronic ankle instability and common fibular nerve injury.

Joint Bone Spine 2011 Mar 18;78(2):206-8. Epub 2010 Oct 18.

Service de Médecine Physique et de Réadaptation, CHU de Nice, 151 route Saint-Antoine-de-Ginestière, BP 3079, 06202 Nice, France.

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http://dx.doi.org/10.1016/j.jbspin.2010.08.015DOI Listing
March 2011

Optimal whole-body vibration settings for muscle strength and power enhancement in human knee extensors.

J Electromyogr Kinesiol 2010 Dec;20(6):1186-95

University of Nice-Sophia Antipolis, Laboratory of Human Motricity, Education and Health, Faculty of Sport Sciences, B.P. 3259, F 06205 Nice Cedex 3, France.

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http://dx.doi.org/10.1016/j.jelekin.2010.08.002DOI Listing
December 2010

Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle.

Stem Cells 2010 Dec;28(12):2182-94

Institute of Developmental Biology and Cancer, University of Nice Sophia-Antipolis, CNRS, UMR6543, Nice, France.

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http://dx.doi.org/10.1002/stem.537DOI Listing
December 2010

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

J Neurol 2010 Oct 18;257(10):1730-3. Epub 2010 Jun 18.

Centre de Référence des maladies Neuromusculaires, Hôpital Archet 1, 151 Route de Saint Antoine de Ginestière, 06202, Nice, France.

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http://dx.doi.org/10.1007/s00415-010-5618-0DOI Listing
October 2010

Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients.

Arch Phys Med Rehabil 2010 May;91(5):697-702

University of Nice-Sophia Antipolis, Laboratory of Human Motricity, Education, and Health, Faculty of Sports Sciences, Nice Cedex, France.

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http://dx.doi.org/10.1016/j.apmr.2010.01.019DOI Listing
May 2010

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Neuromuscul Disord 2010 Jan 27;20(1):44-8. Epub 2009 Nov 27.

Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2009.10.014DOI Listing
January 2010

Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?

J Neurol 2009 Nov 30;256(11):1876-80. Epub 2009 Jul 30.

Centre de référence pour Maladies NeuroMusculaires et SLA, Hôpital Archet 1, CHU de Nice, route saint Antoine de Ginestière, BP3079, 06202 Nice Cedex 3, France.

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http://link.springer.com/10.1007/s00415-009-5217-0
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http://dx.doi.org/10.1007/s00415-009-5217-0DOI Listing
November 2009

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

PLoS Genet 2009 Feb 27;5(2):e1000394. Epub 2009 Feb 27.

Laboratoire de Biologie Moléculaire de la Cellule, Ecole Normale Supérieure de Lyon, Centre National de la Recherche Scientifique UMR 5239, UCBL1, IFR128, Lyon, France.

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http://dx.doi.org/10.1371/journal.pgen.1000394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2639723PMC
February 2009

Use of the Faces Pain Scale by left and right hemispheric stroke patients.

Pain 2007 Mar 5;128(1-2):52-8. Epub 2006 Oct 5.

Médecine Physique et Réadaptation, CHU l'Archet 1, Route de Saint-Antoine de Ginestière, BP 3079, 06202 Nice Cedex 3, France.

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http://dx.doi.org/10.1016/j.pain.2006.08.029DOI Listing
March 2007

hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.

Biochem Biophys Res Commun 2005 Nov 29;337(3):832-9. Epub 2005 Sep 29.

INSERM U638, Faculté de Médicine, Université de Nice, France.

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http://dx.doi.org/10.1016/j.bbrc.2005.09.127DOI Listing
November 2005

[The possible place of autologus cell therapy in facioscapulohumeral muscular dystrophy].

Bull Acad Natl Med 2005 Apr;189(4):697-713; discussion 713-4

Centre de Reference pour les Maladies Neuromusculaires - CHU de Nice. Groupe Hospitalier l'Archet, BP 3079, 06202 Nice cedex 03 et INSERM U 638.

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April 2005

Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.

J Mol Med (Berl) 2005 Mar 17;83(3):216-24. Epub 2004 Nov 17.

Centre de Recherche en Biochimie et Macromoléculaire, FRE-2593-CNRS, 1919 Route de Mende, 34293, Montpellier cedex 5, France.

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http://dx.doi.org/10.1007/s00109-004-0583-7DOI Listing
March 2005

[Evolution of the concept of mitochondrial disease].

Authors:
Claude Desnuelle

Bull Acad Natl Med 2003 ;187(3):537-55; discussion 555-7

Fédération des Maladies Neuromusculaires, Hôpital de l'Archet CHU de Nice, UMR CNRS 6549, Instabilité Altération des Génomes, Faculté de Médecine de Nice, BP 3079-06202 Nice.

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December 2003

Can malondialdehyde be used as a biological marker of progression in neurodegenerative disease?

J Neurol 2002 Apr;249(4):367-74

Laboratoire Aventis, 46, quai de la Rapée, 75601 Paris Cedex 12, France.

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http://dx.doi.org/10.1007/s004150200025DOI Listing
April 2002