RicardoAMaselliMD

PubMed

• Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice.
  Lin, C., Thomas, C., Huynh, T., Wei, D., Young, J., Aivazian, A., McInnes, A., Xu, J., Cook, S., Vazquez, J., Maselli, R.> ;Human Gene Therapy. 2024 Feb 1
• Intravenous immunoglobulin is safe and effective in controlling pre-existing paraneoplastic neuromuscular diseases in cancer patients treated with immune checkpoint in...
  Ge Xiong, Richard Benjamin Young, Helen Chow, Emanual Maverakis, Ricardo A Maselli, David Paul Richman, Tianhong Li> ;Frontiers in Oncology. 2023 Jan 1
• Atypical Case of POEMS Presented as Demyelinating Polyneuropathy With Motor Conduction Block
  Stacey Y Guo, Alexandra Duffy, Ricardo A. Maselli, Ge Xiong> ;Journal of Clinical Neuromuscular Disease. 2021 Dec 1
• 6 citations
  Dominant and Recessive Congenital Myasthenic Syndromes Caused by SYT2 Mutations
  Ricardo A. Maselli, David T. Wei, Trent S. Hodgson, Jacinda B. Sampson, Jessica Vázquez, Heather L. Smith, Peter Pytel, Michael J. Ferns> ;Muscle & Nerve. 2021 May 26
• 10 citations
  Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.
  Ricardo A. Maselli, Hélio van der Linden, Michael J. Ferns> ;American Journal of Medical Genetics. Part A. 2020 Apr 6
• 1 citations
  Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.
  Véronique Bissay, Ricardo A. Maselli> ;Journal of Clinical Neuromuscular Disease. 2019 Sep 1
• 7 citations
  Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4.
  John B. Rudell, Ricardo A. Maselli, Vladimir Yarov-Yarovoy, Michael J. Ferns> ;Human Molecular Genetics. 2019 Aug 15
• 7 citations
  Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.
  Ricardo A. Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B. Strober, Peter Pytel, Robert L. Wollmann, Michael J. Ferns> ;Molecular Genetics & Genomic Medicine. 2018 May 1
• 7 citations
  A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.
  Ricardo A. Maselli, Juan Arredondo, Jessica Vázquez, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Marian Lara, Fiona Ng, Victoria Lee Lo, Peter Pytel, C...> ;Annals of the New York Academy of Sciences. 2018 Jan 28
• 12 citations
  Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.
  Jorge A. Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vázquez, Ricardo A. Maselli> ;European Journal of Translational Myology. 2017 Sep 20
• 26 citations
  Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
  Ricardo A. Maselli, Juan Arredondo, Jessica Vázquez, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Marian Lara, Fiona Ng, Victoria Lee Lo, Peter Pytel, C...> ;American Journal of Medical Genetics. Part A. 2017 May 25
• 6 citations
  Effect of 3,4-diaminopyridine at the murine neuromuscular junction.
  Fiona Ng, Diana C. Lee, Leah Schrumpf, Mary E. Mazurek, Victoria Lee Lo, Sharleen K. Gill, Ricardo A. Maselli> ;Muscle & Nerve. 2017 Feb 1
• 15 citations
  Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine
  Ted M. Burns, Gordon Smith, Jeffrey A. Allen, Anthony A. Amato, W. David Arnold, Richard J. Barohn, Michael Benatar, Shawn J. Bird, Mark B. Bromberg, Nizar Chahin, Emm...> ;Muscle & Nerve. 2016 Feb 1
• 18 citations
  Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype–Phenotype Correlations
  Juan Arredondo, Marian Lara, Sidney M. Gospe, Claudio Mazia, Maria Magdalena Vaccarezza, Marcela Garcia-Erro, Constance M. Bowe, Celia H. Chang, Michelle M. Mezei, Ric...> ;Human Mutation. 2015 Sep 1
• 52 citations
  Defective Fast Inactivation Recovery of Nav1.4 in Congenital Myasthenic Syndrome
  W. David Arnold, Daniel H. Feldman, Sandra Ramirez, Liuyuan He, Darine Kassar, Adam Quick, Tara L. Klassen, Marian Lara, Joanna Nguyen, John T. Kissel, Christoph Lossi...> ;Annals of Neurology. 2015 May 1
• 5 citations
  Axonal neuropathy in female carriers of the fragile X premutation with fragile x–associated tremor ataxia syndrome
  Suresh Ram, Inoka A. Devapriya, Grace Fenton, Lindsey M. McVay, Danh V. Nguyen, Flora Tassone, Ricardo A. Maselli, Randi J Hagerman> ;Muscle & Nerve. 2015 Aug 1
• 18 citations
  Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
  Ricardo A. Maselli, Juan Arredondo, Joanna Nguyen, Marian Lara, Fiona Ng, Maian Ngo, J. M. Pham, Q. Yi, Jeffrey M. Stajich, Kristin K. McDonald, Michael A. Hauser, Rob...> ;Clinical Genetics. 2014 Feb 1
• 28 citations
  COOH-terminal collagen Q ( COLQ ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina
  Juan Arredondo, Marian Lara, Fiona Ng, Danielle A. Gochez, Diana C. Lee, Stephanie P. Logia, Joanna Nguyen, Ricardo A. Maselli> ;Human Genetics. 2014 May 1
• 21 citations
  Synaptic basal lamina–associated congenital myasthenic syndromes
  Ricardo A. Maselli, Juan Arredondo, Michael J. Ferns, Robert L. Wollmann> ;Annals of the New York Academy of Sciences. 2012 Dec 1
• 7 citations
  Animal models of antimuscle-specific kinase myasthenia
  David P. Richman, Kayoko Nishi, Michael J. Ferns, Joachim B. Schnier, Peter Pytel, Ricardo A. Maselli, Mark A. Agius> ;Annals of the New York Academy of Sciences. 2012 Dec 1
• 9 citations
  Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
  David P. Richman, Yawei Yu, Ting-Ting Lee, Pang-Yen Tseng, Wei Ping Yu, Ricardo A. Maselli, Chih Yung Tang, Tsung-Yu Chen> ;Neuromolecular Medicine. 2012 Jul 12
• 69 citations
  LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin
  Ricardo A. Maselli, José M. Fernández, Juan Arredondo, Carmen Navarro, Maian Ngo, David Beeson, Órla Cagney, D. Colette Williams, Robert L. Wollmann, Vladimir Yarov-Ya...> ;Human Genetics. 2012 Jul 1
• 35 citations
  Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes.
  David P. Richman, Kayoko Nishi, Stuart W. Morell, Jolene Mi Chang, Michael J. Ferns, Robert L. Wollmann, Ricardo A. Maselli, Joachim B. Schnier, Mark A. Agius> ;Archives of Neurology. 2012 Apr 1
• 33 citations
  Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
  Ricardo A. Maselli, Juan Arredondo, Órla Cagney, Tahseen Mozaffar, S. Skinner, S. Yousif, Rr Davis, Jeffrey P. Gregg, Mark Sivak, Thomas Konia, K. Thomas, Rl Wollmann> ;Clinical Genetics. 2011 Nov 1
• 5 citations
  Protection of human muscle acetylcholinesterase from soman by pyridostigmine bromide
  Ricardo A. Maselli, John D. Henderson, Jarae Ng, David Follette, Gregory Graves, Barry W. Wilson> ;Muscle & Nerve. 2011 Apr 1
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