Claude Desnuelle

Summary

Country: France

Publications

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

Detail Information

Publications11

  1. ncbi [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 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 [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. ncbi 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 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. ncbi 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. ncbi 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. ncbi 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 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 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. ncbi 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...