- [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...
- A double-blind, placebo-controlled randomized clinical trial of alpha-tocopherol (vitamin E) in the treatment of amyotrophic lateral sclerosis. ALS riluzole-tocopherol Study GroupC 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...
- [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...
- Challenges in diagnosis and treatment of late-onset Pompe diseaseClaude 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...
- Use of the Faces Pain Scale by left and right hemispheric stroke patientsCharles 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...
- Chronic ankle instability and common fibular nerve injuryMichaël 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....
- A functionally dominant mitochondrial DNA mutationSabrina 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...
- 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...
- Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genesMichelangelo 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...
- Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naimi
Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France
Eur J Hum Genet 14:917-22. 2006....
- Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosisAgathe 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...