Claude Desnuelle

Summary

Country: France

Publications

  1. ncbi request reprint [Evolution of the concept of mitochondrial disease]
    Claude Desnuelle
    Féderation 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
    Bull Acad Natl Med 187:537-55; discussion 555-7. 2003
  2. ncbi request reprint A double-blind, placebo-controlled randomized clinical trial of alpha-tocopherol (vitamin E) in the treatment of amyotrophic lateral sclerosis. ALS riluzole-tocopherol Study Group
    C Desnuelle
    Service Médecine Physique et de Réadaptation, Maladies Neuromusculaires, CHU de Nice Hĵpital, France
    Amyotroph Lateral Scler Other Motor Neuron Disord 2:9-18. 2001
  3. ncbi request reprint [What physical therapy techniques can be used to improve airway freedom in amyotrophic lateral sclerosis?]
    C Desnuelle
    Centre de référence pour les maladies neuromusculaires et la SLA, Hopital Archet, CHU de Nice, France
    Rev Neurol (Paris) 162:4S244-4S252. 2006
  4. doi request reprint Challenges in diagnosis and treatment of late-onset Pompe disease
    Claude Desnuelle
    Reference Centre for Neuromuscular Diseases, Department of Neurology, University Hospital of Nice and UMR CNRS UNSA 6543, France
    Curr Opin Neurol 24:443-8. 2011
  5. ncbi request reprint Use of the Faces Pain Scale by left and right hemispheric stroke patients
    Charles Benaim
    Médecine Physique et Réadaptation, CHU l Archet 1, Route de Saint Antoine de Ginestiere, BP 3079, 06202 Nice Cedex 3, France
    Pain 128:52-8. 2007
  6. doi request reprint Chronic ankle instability and common fibular nerve injury
    Michaël Benchortane
    Service de Medecine Physique et de Readaptation, CHU de Nice, 151 Route Saint Antoine de Ginestiere, BP 3079, 06202 Nice, France
    Joint Bone Spine 78:206-8. 2011
  7. pmc A functionally dominant mitochondrial DNA mutation
    Sabrina Sacconi
    Féderation des maladies neuromusculaires, CHU de Nice and INSERM U638, Nice, France
    Hum Mol Genet 17:1814-20. 2008
  8. doi request reprint Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?
    Emilien Delmont
    Centre de référence pour Maladies NeuroMusculaires et SLA, hôpital Archet 1, CHU de Nice, route Saint Antoine de Ginestiere, BP3079, 06202 Nice Cedex 3, France
    J Neurol 256:1876-80. 2009
  9. ncbi request reprint Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 60:1445-7. 2003
  10. ncbi request reprint Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
    Mourad Naimi
    Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France
    Eur J Hum Genet 14:917-22. 2006

Collaborators

  • Sabrina Sacconi
  • Charles Benaim
  • Mercy M Davidson
  • C Perrin
  • Eva Trevisson
  • M H Soriani
  • Emilien Delmont
  • Yutaka Nishigaki
  • Michio Hirano
  • V Meininger
  • Philippe Couratier
  • M Mancuso
  • M Filosto
  • Vincent Procaccio
  • Pierre Clavelou
  • ERIC SCHON
  • S DiMauro
  • Michaël Benchortane
  • Agathe Paubel
  • Jean Pouget
  • Mourad Naimi
  • Alain Delarque
  • Jean Marie Coudreuse
  • Jean Michel Viton
  • Herve Collado
  • Alain Destee
  • Francois Salachas
  • Fausto Viader
  • Guillaume Garrigues
  • Julien Praline
  • Gerard Besson
  • Jeremy Violette
  • Gwendal Lemasson
  • Christophe Vial
  • Maïté Amy
  • Laurence Carluer
  • Patrick Vourc'h
  • Cecile Maugras
  • Jean Christophe Antoine
  • Dominique Lardiller
  • Veronique Danel
  • Annie Verschuren
  • Marc Debouverie
  • Nathalie Guy
  • Sophie Pition
  • Nadia Vandenberghe
  • Nicholas Pageot
  • Pierre Francois Pradat
  • Michel Dib
  • William Camu
  • Jean Philippe Camdessanche
  • Marie Christine Arne-Bes
  • Fredric Dubas
  • Emmanuel Broussole
  • Pascal Cintas
  • Christian R Andres
  • Emmanuelle Salort
  • Philippe Corcia
  • Nadine Leforestier
  • Christine Tranchant
  • Maurice Giroud
  • Guillaume Nicolas
  • Gaelle Bruneteau
  • Marie Celine Fleury
  • Matthieu Lacoste
  • Veronique Paquis-Flucklinger
  • Mariella Simon
  • Douglas Wallace
  • Christian Richelme
  • Michel Clanet
  • Jean Francois Pellissier
  • Sylvie Bannwarth
  • Philippe Jonveaux
  • Agnes Rotig
  • Giovanni Castelnovo
  • Arnold Munnich
  • Patrick Calvas
  • Melvin Simon

Detail Information

Publications11

  1. ncbi request reprint [Evolution of the concept of mitochondrial disease]
    Claude Desnuelle
    Féderation 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
    Bull Acad Natl Med 187:537-55; discussion 555-7. 2003
    ..Here the term of mitochondrial disease is limited to genetic defect in the respiratory chain where advance were recently especially significant for the evolution of the concept and updated classification...
  2. ncbi request reprint A double-blind, placebo-controlled randomized clinical trial of alpha-tocopherol (vitamin E) in the treatment of amyotrophic lateral sclerosis. ALS riluzole-tocopherol Study Group
    C Desnuelle
    Service Médecine Physique et de Réadaptation, Maladies Neuromusculaires, CHU de Nice Hĵpital, France
    Amyotroph Lateral Scler Other Motor Neuron Disord 2:9-18. 2001
    ..The current study was designed to determine whether alpha-tocopherol (500 mg b.i.d.) may be efficacious in the treatment of ALS...
  3. ncbi request reprint [What physical therapy techniques can be used to improve airway freedom in amyotrophic lateral sclerosis?]
    C Desnuelle
    Centre de référence pour les maladies neuromusculaires et la SLA, Hopital Archet, CHU de Nice, France
    Rev Neurol (Paris) 162:4S244-4S252. 2006
    ..This staging provides a framework for physical therapy evaluation and guidance for appropriate rehabilitation in ALS patients...
  4. doi request reprint Challenges in diagnosis and treatment of late-onset Pompe disease
    Claude Desnuelle
    Reference Centre for Neuromuscular Diseases, Department of Neurology, University Hospital of Nice and UMR CNRS UNSA 6543, France
    Curr Opin Neurol 24:443-8. 2011
    ..In the meantime, substantial progress has been made in basic and applied research on animal models to enhance the efficacy of treatments. This brief review highlights the new concepts in a contemporary approach...
  5. ncbi request reprint Use of the Faces Pain Scale by left and right hemispheric stroke patients
    Charles Benaim
    Médecine Physique et Réadaptation, CHU l Archet 1, Route de Saint Antoine de Ginestiere, BP 3079, 06202 Nice Cedex 3, France
    Pain 128:52-8. 2007
    ..However, we do not recommend its sole use in stroke patients. Further studies are needed to determine whether FPS can be used in stroke patients for assessing changes in severity of pain over time...
  6. doi request reprint Chronic ankle instability and common fibular nerve injury
    Michaël Benchortane
    Service de Medecine Physique et de Readaptation, CHU de Nice, 151 Route Saint Antoine de Ginestiere, BP 3079, 06202 Nice, France
    Joint Bone Spine 78:206-8. 2011
    ....
  7. pmc A functionally dominant mitochondrial DNA mutation
    Sabrina Sacconi
    Féderation des maladies neuromusculaires, CHU de Nice and INSERM U638, Nice, France
    Hum Mol Genet 17:1814-20. 2008
    ..Moreover, similar mutations arising stochastically and accumulating in a minority of mtDNA molecules during the aging process may severely impair RC function in cells...
  8. doi request reprint Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?
    Emilien Delmont
    Centre de référence pour Maladies NeuroMusculaires et SLA, hôpital Archet 1, CHU de Nice, route Saint Antoine de Ginestiere, BP3079, 06202 Nice Cedex 3, France
    J Neurol 256:1876-80. 2009
    ..4 g/(kg 4 weeks vs. 0.6; p = 0.018). A reduction in SNAP amplitude during the course of MMNCB is associated with a more severe disease and a more prominent axonal loss. This result needs to be confirmed in a larger cohort...
  9. ncbi request reprint Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 60:1445-7. 2003
    ..To document 2 apparently incongruous clinical disorders occurring in the same infant: congenital myopathy with myophosphorylase deficiency (McArdle disease) and mitochondrial hepatopathy with liver failure and mitochondrial DNA depletion...
  10. ncbi request reprint Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
    Mourad Naimi
    Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France
    Eur J Hum Genet 14:917-22. 2006
    ....
  11. doi request reprint Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis
    Agathe Paubel
    INSERM U930, Université François Rabelais Tours, CHRU de Tours, Faculte de Medecine, 10 boulevard Tonnelle, BP3223, 37032 Tours Cedex, France
    Arch Neurol 65:1333-6. 2008
    ..However, the cellular and molecular mechanisms that link ANG, a multidomain protein, to ALS are still unknown...