Genomes and Genes
RICARDO ANIBAL MASELLI
Affiliation: University of California
- High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarraysLisa 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...
- Synaptic basal lamina-associated congenital myasthenic syndromesRicardo A Maselli
Department of Neurology, University of California, Davis, California, USA
Ann N Y Acad Sci 1275:36-48. 2012....
- Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNER A Maselli
Department of Neurology, University of California Davis, USA
Clin Genet 80:444-51. 2011....
- Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interactionRicardo A Maselli
Department of Neurology, School of Veterinary Medicine, University of California Davis, Davis, CA 95618, USA
Hum Mol Genet 19:2370-9. 2010....
- Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndromeR 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)...
- Presynaptic congenital myasthenic syndrome due to quantal release deficiencyR 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)...
- Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2R A Maselli
Neurology Department, University of California Davis, USA
Neurology 61:1743-8. 2003....
- Effect of inherited abnormalities of calcium regulation on human neuromuscular transmissionRicardo A Maselli
Department of Neurology, University of California, Davis, Davis, California 95616, USA
Ann N Y Acad Sci 998:18-28. 2003....
- Rapsyn mutations in myasthenic syndrome due to impaired receptor clusteringRicardo 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...
- Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesisRicardo 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...
- Common founder effect of rapsyn N88K studied using intragenic markersVanessa 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...
- Variable phenotypes associated with mutations in DOK7Jennifer 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...
- Identification of pathogenic mutations in the human rapsyn geneVanessa 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...
- Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndromeChristopher 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...
- Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanismsChristopher 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...
- Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociationManuel F Navedo
Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195 7290, USA
Mol Cell Neurosci 32:82-90. 2006....
- Focal caspase activation underlies the endplate myopathy in slow-channel syndromeBhupinder 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...