RICARDO ANIBAL MASELLI

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays
    Lisa Denning
    Department of Neurology, University of California at Davis, Davis, California, United States of America
    PLoS ONE 2:e918. 2007
  2. doi request reprint Synaptic basal lamina-associated congenital myasthenic syndromes
    Ricardo A Maselli
    Department of Neurology, University of California, Davis, California, USA
    Ann N Y Acad Sci 1275:36-48. 2012
  3. ncbi request reprint Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
    R A Maselli
    Department of Neurology, University of California Davis, USA
    Clin Genet 80:444-51. 2011
  4. pmc Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction
    Ricardo A Maselli
    Department of Neurology, School of Veterinary Medicine, University of California Davis, Davis, CA 95618, USA
    Hum Mol Genet 19:2370-9. 2010
  5. pmc Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
    R A Maselli
    Department of Neurology, University of California Davis, Davis, CA, 95618, USA
    J Med Genet 46:203-8. 2009
  6. ncbi request reprint Presynaptic congenital myasthenic syndrome due to quantal release deficiency
    R A Maselli
    Neurology Department, University of California, Davis 95616, USA
    Neurology 57:279-89. 2001
  7. ncbi request reprint Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2
    R A Maselli
    Neurology Department, University of California Davis, USA
    Neurology 61:1743-8. 2003
  8. ncbi request reprint Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission
    Ricardo A Maselli
    Department of Neurology, University of California, Davis, Davis, California 95616, USA
    Ann N Y Acad Sci 998:18-28. 2003
  9. ncbi request reprint Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering
    Ricardo A Maselli
    Department of Neurology, University of California, 1515 Newton Court, Room 510, Davis, California 95616, USA
    Muscle Nerve 28:293-301. 2003
  10. ncbi request reprint Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis
    Ricardo A Maselli
    Department of Neurology, University of California, 1515 Newton Court, Room 510, Davis, CA 95616, USA
    Muscle Nerve 27:180-7. 2003

Research Grants

  1. Congenital Myasthenic Syndromes: Pathogenic Mechanisms
    RICARDO ANIBAL MASELLI; Fiscal Year: 2010

Collaborators

Detail Information

Publications17

  1. pmc High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays
    Lisa Denning
    Department of Neurology, University of California at Davis, Davis, California, United States of America
    PLoS ONE 2:e918. 2007
    ..We describe the performance of a custom resequencing microarray for mutational analysis of Congenital Myasthenic Syndromes (CMSs), a group of disorders in which the normal process of neuromuscular transmission is impaired...
  2. doi request reprint Synaptic basal lamina-associated congenital myasthenic syndromes
    Ricardo A Maselli
    Department of Neurology, University of California, Davis, California, USA
    Ann N Y Acad Sci 1275:36-48. 2012
    ....
  3. ncbi request reprint Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
    R A Maselli
    Department of Neurology, University of California Davis, USA
    Clin Genet 80:444-51. 2011
    ....
  4. pmc Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction
    Ricardo A Maselli
    Department of Neurology, School of Veterinary Medicine, University of California Davis, Davis, CA 95618, USA
    Hum Mol Genet 19:2370-9. 2010
    ....
  5. pmc Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
    R A Maselli
    Department of Neurology, University of California Davis, Davis, CA, 95618, USA
    J Med Genet 46:203-8. 2009
    ..We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2)...
  6. ncbi request reprint Presynaptic congenital myasthenic syndrome due to quantal release deficiency
    R A Maselli
    Neurology Department, University of California, Davis 95616, USA
    Neurology 57:279-89. 2001
    ..To provide clinical, electrophysiologic, and ultrastructural findings in three patients with a presynaptic congenital myasthenic syndrome (CMS)...
  7. ncbi request reprint Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2
    R A Maselli
    Neurology Department, University of California Davis, USA
    Neurology 61:1743-8. 2003
    ....
  8. ncbi request reprint Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission
    Ricardo A Maselli
    Department of Neurology, University of California, Davis, Davis, California 95616, USA
    Ann N Y Acad Sci 998:18-28. 2003
    ....
  9. ncbi request reprint Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering
    Ricardo A Maselli
    Department of Neurology, University of California, 1515 Newton Court, Room 510, Davis, California 95616, USA
    Muscle Nerve 28:293-301. 2003
    ..Surprisingly, two N88K homozygous patients had one asymptomatic relative each who carried the same genotype, suggesting that additional genetic factors to RAPSN mutations are required for disease expression...
  10. ncbi request reprint Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis
    Ricardo A Maselli
    Department of Neurology, University of California, 1515 Newton Court, Room 510, Davis, CA 95616, USA
    Muscle Nerve 27:180-7. 2003
    ..Three of these mutations have previously been reported and suggest that, in this syndrome, some molecular defects may be more prevalent than others...
  11. ncbi request reprint Common founder effect of rapsyn N88K studied using intragenic markers
    Vanessa Dunne
    Department of Neurology, University of California, Davis, CA 95616, USA
    J Hum Genet 49:366-9. 2004
    ..The discordant haplotype found in homozygous individuals suggests that recombination events may have occurred within the rapsyn gene and that this may have implications in the phenotypic expression of the disease...
  12. ncbi request reprint Variable phenotypes associated with mutations in DOK7
    Jennifer A Anderson
    Department of Neurology, University of California at Davis, Davis, CA 95618, USA
    Muscle Nerve 37:448-56. 2008
    ..Overall, our study corroborates the findings of others and provides an additional demonstration of the considerable phenotypic variability associated with CMS due to DOK7 mutations...
  13. ncbi request reprint Identification of pathogenic mutations in the human rapsyn gene
    Vanessa Dunne
    Department of Neurology, University of California, Davis, California 95616, USA
    J Hum Genet 48:204-7. 2003
    ..N88K occurs within the putative leucine zipper motif potentially important for AChR clustering. These findings may explain the severe clinical involvement of compound heterozygous patients...
  14. ncbi request reprint Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome
    Christopher M Gomez
    Department of Neurology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 22:6447-57. 2002
    ..These studies demonstrate the importance of control of the kinetics of AChR channel gating for the function and viability of the neuromuscular junction...
  15. ncbi request reprint Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms
    Christopher M Gomez
    Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA
    Ann Neurol 51:102-12. 2002
    ..These studies demonstrate the role of previously unrecognized mechanisms of impairment of synaptic transmission caused by a novel mutation and show the importance of serial in vitro studies to elucidate novel disease mechanisms...
  16. ncbi request reprint Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation
    Manuel F Navedo
    Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195 7290, USA
    Mol Cell Neurosci 32:82-90. 2006
    ....
  17. ncbi request reprint Focal caspase activation underlies the endplate myopathy in slow-channel syndrome
    Bhupinder P S Vohra
    Departments of Neurology and Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA
    Ann Neurol 55:347-52. 2004
    ..These findings provide the first evidence supporting the view that caspase activation in human disease can play a prominent role in localized cellular degenerative processes without causing nuclear or cell death...

Research Grants1

  1. Congenital Myasthenic Syndromes: Pathogenic Mechanisms
    RICARDO ANIBAL MASELLI; Fiscal Year: 2010
    ....