Andrew G Engel, MD

  • 25831 Citations
  • 90 Scopus h-Index
1960 …2019

Research output per year

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  • Research Output

    A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

    Nicolau, S., Liewluck, T., Shen, X. M., Selcen, D., Engel, A. G. & Milone, M., Aug 1 2019, In : Neuromuscular Disorders. 29, 8, p. 614-617 4 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Síndrome miasténico congénito por deficiencia de rapsina: reporte de caso con nueva mutación y heterocigosidad compuesta

    Translated title of the contribution: Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosityEspinoza, I. O., Reynoso, C., Chávez, G. & Engel, A. G., Jun 4 2019, In : Medwave. 19, 5, p. e7645

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

    Shen, X. M., Milone, M., Wang, H. L., Banwell, B., Selcen, D., Sine, S. M. & Engel, A. G., Oct 1 2019, In : Annals of Clinical and Translational Neurology. 6, 10, p. 2066-2078 13 p.

    Research output: Contribution to journalArticle

    Open Access
  • A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

    Thompson, R., Abicht, A., Beeson, D., Engel, A. G., Eymard, B., Maxime, E. & Lochmüller, H., Nov 26 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 211.

    Research output: Contribution to journalArticle

  • 3 Scopus citations

    Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

    Kao, J. C., Milone, M., Selcen, D., Shen, X. M., Engel, A. G. & Liewluck, T., Nov 6 2018, In : Neurology. 91, 19, p. e1770-e1777

    Research output: Contribution to journalArticle

  • 4 Scopus citations