Sabrina Sacconi

Summary

Country: France

Publications

  1. ncbi request reprint 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. pmc The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
    Sabrina Sacconi
    Neuromuscular Diseases Centre, University Hospital of Nice, 06000 Nice, France CNRS UMR7277, iBV, Faculty of Medicine, University of Nice, 06108 Nice, France Electronic address
    Am J Hum Genet 93:744-51. 2013
  3. doi request reprint [Facioscapulohumeral muscular dystrophy type 2]
    S Sacconi
    Centre de référence maladies neuromusculaires, hôpital Archet 1, CHU de Nice, BP 3079, 151, Route de Saint Antoine de Ginestiere, 06202 Nice Cedex 3, France UMR CNRS 7277, INSERM 1091, Faculte de Medecine, Tour Pasteur, Avenue de Valombrose, 06189 Nice cedex, France Electronic address
    Rev Neurol (Paris) 169:564-72. 2013
  4. pmc Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
    Alberto Casarin
    Clinical Genetics Unit, Dept of Pediatrics, University of Padova, Via Giustiniani 3, Padova 35128, Italy
    Orphanet J Rare Dis 7:21. 2012
  5. doi request reprint 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
  6. doi request reprint 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
  7. pmc 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
  8. doi request reprint 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
  9. 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
  10. doi request reprint 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

Collaborators

Detail Information

Publications15

  1. ncbi request reprint 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. pmc The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
    Sabrina Sacconi
    Neuromuscular Diseases Centre, University Hospital of Nice, 06000 Nice, France CNRS UMR7277, iBV, Faculty of Medicine, University of Nice, 06108 Nice, France Electronic address
    Am J Hum Genet 93:744-51. 2013
    ..We conclude that FSHD1 and FSHD2 share a common pathophysiological pathway in which the FSHD2 gene can act as modifier for disease severity in families affected by FSHD1. ..
  3. doi request reprint [Facioscapulohumeral muscular dystrophy type 2]
    S Sacconi
    Centre de référence maladies neuromusculaires, hôpital Archet 1, CHU de Nice, BP 3079, 151, Route de Saint Antoine de Ginestiere, 06202 Nice Cedex 3, France UMR CNRS 7277, INSERM 1091, Faculte de Medecine, Tour Pasteur, Avenue de Valombrose, 06189 Nice cedex, France Electronic address
    Rev Neurol (Paris) 169:564-72. 2013
    ....
  4. pmc Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
    Alberto Casarin
    Clinical Genetics Unit, Dept of Pediatrics, University of Padova, Via Giustiniani 3, Padova 35128, Italy
    Orphanet J Rare Dis 7:21. 2012
    ..Bezafibrate (BZF), an approved hypolipidemic agent, ameliorates the COX deficiency in mice with mutations in COX10, another COX-assembly gene...
  5. doi request reprint 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...
  6. doi request reprint 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...
  7. pmc 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...
  8. doi request reprint 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...
  9. 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...
  10. doi request reprint 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...
  11. doi request reprint 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...
  12. doi request reprint 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...
  13. 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...
  14. ncbi request reprint 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...
  15. ncbi request reprint Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients
    J T Vilquin
    INSERM U582, Groupe Hospitalier Pitie Salpetriere, 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...