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Ricardo A Maselli

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InstitutionUniversity of California Davis
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Maselli R, Vázquez J, Schrumpf L, Arredondo J, Lara M, Strober JB, Pytel P, Wollmann RL, Ferns M. Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Mol Genet Genomic Med. 2018 Feb 14. PMID: 29441694.
      View in: PubMed
    2. Maselli R, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci. 2018 Feb; 1413(1):119-125. PMID: 29377152.
      View in: PubMed
    3. Bevilacqua JA, Lara M, Díaz J, Campero M, Vázquez J, Maselli R. Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile. Eur J Transl Myol. 2017 06 27; 27(3):6832. PMID: 29118959.
      View in: PubMed
    4. Maselli R, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug; 173(8):2240-2245. PMID: 28544784.
      View in: PubMed
    5. Ng F, Lee DC, Schrumpf LA, Mazurek ME, Lee Lo V, Gill SK, Maselli R. Effect of 3,4-diaminopyridine at the murine neuromuscular junction. Muscle Nerve. 2017 02; 55(2):223-231. PMID: 27251582.
      View in: PubMed
    6. Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM, Hehir MK, Hobson-Webb LD, Howard JF, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI. Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine. Muscle Nerve. 2016 Feb; 53(2):165-8. PMID: 26662952.
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    7. Ram S, Devapriya IA, Fenton G, Mcvay L, Nguyen DV, Tassone F, Maselli R, Hagerman RJ. Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome. Muscle Nerve. 2015 Aug; 52(2):234-9. PMID: 25388402; PMCID: PMC4427531.
    8. Arredondo J, Lara M, Gospe SM, Mazia CG, Vaccarezza M, Garcia-Erro M, Bowe CM, Chang CH, Mezei MM, Maselli R. Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. Hum Mutat. 2015 Sep; 36(9):881-93. PMID: 26080897; PMCID: PMC4537391.
    9. Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli R. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. Ann Neurol. 2015 May; 77(5):840-50. PMID: 25707578; PMCID: PMC4510994.
    10. Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli R. COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina. Hum Genet. 2014 May; 133(5):599-616. PMID: 24281389; PMCID: PMC4024244.
    11. Richman DP, Nishi K, Ferns MJ, Schnier J, Pytel P, Maselli R, Agius MA. Animal models of antimuscle-specific kinase myasthenia. Ann N Y Acad Sci. 2012 Dec; 1274:140-7. PMID: 23252909; PMCID: PMC3915870.
    12. Maselli R, Arredondo J, Ferns MJ, Wollmann RL. Synaptic basal lamina-associated congenital myasthenic syndromes. Ann N Y Acad Sci. 2012 Dec; 1275:36-48. PMID: 23278576.
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    13. Richman DP, Yu Y, Lee TT, Tseng PY, Yu WP, Maselli R, Tang CY, Chen TY. Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1. Neuromolecular Med. 2012 Dec; 14(4):328-37. PMID: 22790975; PMCID: PMC3508202.
    14. Maselli R, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet. 2012 Jul; 131(7):1123-35. PMID: 22205389; PMCID: PMC4795461.
    15. Richman DP, Nishi K, Morell SW, Chang JM, Ferns MJ, Wollmann RL, Maselli R, Schnier J, Agius MA. Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes. Arch Neurol. 2012 Apr; 69(4):453-60. PMID: 22158720; PMCID: PMC3915865.
    16. Maselli R, Henderson JD, Ng J, Follette D, Graves G, Wilson BW. Protection of human muscle acetylcholinesterase from soman by pyridostigmine bromide. Muscle Nerve. 2011 Apr; 43(4):591-5. PMID: 21404290.
      View in: PubMed
    17. Maselli R, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet. 2010 Jun 15; 19(12):2370-9. PMID: 20371544; PMCID: PMC2876883.
    18. Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, Wollmann RL, Maselli R. Variable phenotypes associated with mutations in DOK7. Muscle Nerve. 2008 Apr; 37(4):448-56. PMID: 18161030.
      View in: PubMed
    19. Soontarapornchai K, Maselli R, Fenton-Farrell G, Tassone F, Hagerman PJ, Hessl D, Hagerman RJ. Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol. 2008 Apr; 65(4):495-8. PMID: 18413472; PMCID: PMC2888466.
    20. Hagerman RJ, Coffey SM, Maselli R, Soontarapornchai K, Brunberg JA, Leehey MA, Zhang L, Gane LW, Fenton-Farrell G, Tassone F, Hagerman PJ. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A. 2007 Oct 01; 143A(19):2256-60. PMID: 17726686.
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    21. Denning L, Anderson JA, Davis R, Gregg JP, Kuzdenyi J, Maselli R. High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays. PLoS One. 2007 Sep 19; 2(9):e918. PMID: 17878953; PMCID: PMC1975473.
    22. Navedo MF, Lasalde-Dominicci JA, Báez-Pagán CA, Díaz-Pérez L, Rojas LV, Maselli R, Staub J, Schott K, Zayas R, Gomez CM. Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):82-90. PMID: 16624571; PMCID: PMC4636114.
    23. Dunne V, Maselli R. Common founder effect of rapsyn N88K studied using intragenic markers. J Hum Genet. 2004; 49(7):366-9. PMID: 15252722.
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    24. Vohra BP, Groshong JS, Maselli R, Verity MA, Wollmann RL, Gomez CM. Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Ann Neurol. 2004 Mar; 55(3):347-52. PMID: 14991812.
      View in: PubMed
    25. Maselli R, Dunne V, Pascual-Pascual SI, Bowe C, Agius M, Frank R, Wollmann RL. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve. 2003 Sep; 28(3):293-301. PMID: 12929188.
      View in: PubMed
    26. Maselli R, Books W, Dunne V. Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission. Ann N Y Acad Sci. 2003 Sep; 998:18-28. PMID: 14592859.
      View in: PubMed
    27. Añor S, Lipsitz D, Williams DC, Tripp L, Willits N, Maselli R, LeCouteur RA. Evaluation of jitter by stimulated single-fiber electromyography in normal dogs. J Vet Intern Med. 2003 Jul-Aug; 17(4):545-50. PMID: 12892306.
      View in: PubMed
    28. Dunne V, Maselli R. Identification of pathogenic mutations in the human rapsyn gene. J Hum Genet. 2003; 48(4):204-7. PMID: 12730725.
      View in: PubMed
    29. Maselli R, Chen D, Mo D, Bowe C, Fenton G, Wollmann RL. Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis. Muscle Nerve. 2003 Feb; 27(2):180-7. PMID: 12548525.
      View in: PubMed
    30. Gomez CM, Maselli R, Groshong J, Zayas R, Wollmann RL, Cens T, Charnet P. Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome. J Neurosci. 2002 Aug 01; 22(15):6447-57. PMID: 12151524.
      View in: PubMed
    31. Gomez CM, Maselli R, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol. 2002 Jan; 51(1):102-12. PMID: 11782989; PMCID: PMC4841278.