Sabrina Sacconi

Summary

Country: France

Publications

  1. ncbi Diagnostic challenges in facioscapulohumeral muscular dystrophy
    S Sacconi
    Féderation des maladies neuromusculaires, CHU de Nice and INSERM U638, Nice, France
    Neurology 67:1464-6. 2006
  2. ncbi A novel CRYAB mutation resulting in multisystemic disease
    Sabrina Sacconi
    Centre de Référence des maladies Neuromusculaires, Nice Hospital and UMR CNRS6543, Nice University, Nice, France
    Neuromuscul Disord 22:66-72. 2012
  3. ncbi Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
    Sabrina Sacconi
    Centre de référence des Maladies neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France
    J Med Genet 49:41-6. 2012
  4. ncbi Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
    Sabrina Sacconi
    Centre de Référence des maladies Neuromusculaires, hôpital Archet 1, 151 route de Saint Antoine de Ginestiere, 06202, Nice, France
    J Neurol 257:1730-3. 2010
  5. ncbi Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
    Sabrina Sacconi
    Centre de Référence des maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculte de Medicine, Nice, France
    Neuromuscul Disord 20:44-8. 2010
  6. 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
  7. ncbi Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
    Sabrina Sacconi
    Centre de Référence des Maladies Neuromusculaires et CNRS UMR 6543, Faculte de Medecine, Universite de Nice, Nice, France
    J Hum Genet 54:419-21. 2009
  8. ncbi Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle
    Didier F Pisani
    Institute of Developmental Biology and Cancer, University of Nice Sophia Antipolis, CNRS, UMR6543, Nice, France
    Stem Cells 28:2182-94. 2010
  9. 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
  10. ncbi Isolation of a highly myogenic CD34-negative subset of human skeletal muscle cells free of adipogenic potential
    Didier F Pisani
    Institute of Developmental Biology and Cancer, Faculty of Medicine, University of Nice Sophia Antipolis, CNRS, Nice, France
    Stem Cells 28:753-64. 2010

Detail Information

Publications12

  1. ncbi Diagnostic challenges in facioscapulohumeral muscular dystrophy
    S Sacconi
    Féderation des maladies neuromusculaires, CHU de Nice and INSERM U638, Nice, France
    Neurology 67:1464-6. 2006
    ..Detailed clinical and genetic evaluation, including 4qA/4qB allele determination, may be needed for the diagnosis of FSHD...
  2. ncbi A novel CRYAB mutation resulting in multisystemic disease
    Sabrina Sacconi
    Centre de Référence des maladies Neuromusculaires, Nice Hospital and UMR CNRS6543, Nice University, Nice, France
    Neuromuscul Disord 22:66-72. 2012
    ..We propose that impairment of alpha-B crystallin dimerization may also be relevant to the pathogenesis of these disorders...
  3. ncbi Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
    Sabrina Sacconi
    Centre de référence des Maladies neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France
    J Med Genet 49:41-6. 2012
    ..To identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis and Southern blot analysis...
  4. ncbi Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
    Sabrina Sacconi
    Centre de Référence des maladies Neuromusculaires, hôpital Archet 1, 151 route de Saint Antoine de Ginestiere, 06202, Nice, France
    J Neurol 257:1730-3. 2010
    ..In conclusion, neurologists should be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should be specifically investigated in the presence of unexplained CNS symptoms...
  5. ncbi Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
    Sabrina Sacconi
    Centre de Référence des maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculte de Medicine, Nice, France
    Neuromuscul Disord 20:44-8. 2010
    ..This study provides a rationale for future therapeutic trials on the effect of CoQ(10) supplementation in patients with mitochondrial diseases presenting with myopathy among clinical features...
  6. 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...
  7. ncbi Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
    Sabrina Sacconi
    Centre de Référence des Maladies Neuromusculaires et CNRS UMR 6543, Faculte de Medecine, Universite de Nice, Nice, France
    J Hum Genet 54:419-21. 2009
    ..No pathogenic mutations were detected in our cohort of patients indicating that COX18 mutations may be very rare or associated with other phenotypes than isolated COX deficiency in infancy...
  8. ncbi Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle
    Didier F Pisani
    Institute of Developmental Biology and Cancer, University of Nice Sophia Antipolis, CNRS, UMR6543, Nice, France
    Stem Cells 28:2182-94. 2010
    ..These results provide cellular bases for adipogenic differentiation in human skeletal muscle, which may explain the fat development encountered in different muscle pathological situations...
  9. 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...
  10. ncbi Isolation of a highly myogenic CD34-negative subset of human skeletal muscle cells free of adipogenic potential
    Didier F Pisani
    Institute of Developmental Biology and Cancer, Faculty of Medicine, University of Nice Sophia Antipolis, CNRS, Nice, France
    Stem Cells 28:753-64. 2010
    ..The simple CD34 sorting allows isolation of myogenic cells with no adipogenic potential and therefore could be of high interest for cell therapy when fat is accumulated in diseased muscle...
  11. ncbi hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly
    Sabrina Sacconi
    INSERM U638, Faculte de Medicine, Universite de Nice, France
    Biochem Biophys Res Commun 337:832-9. 2005
    ..These two COX-assembly genes represent new candidates for mutational analysis in patients with isolated COX deficiency of unknown etiology...
  12. ncbi Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients
    J-T Vilquin
    INSERM U582, , Institut de Myologie, Paris, France
    Gene Ther 12:1651-62. 2005
    ..These data suggest that myoblasts expanded from unaffected FSHD muscles may be suitable tools in view of autologous cell transplantation clinical trials...