Andrew G Engel, MD

  • 26119 Citations
  • 91 Scopus h-Index
1960 …2020

Research output per year

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Projects

Congenital Myasthenic Syndromes

Engel, A. G. & Selcen, D.

5/1/774/30/16

Project: Research project

Research Output

  • A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy

    Nicolau, S., Liewluck, T., Elliott, J. L., Engel, A. G. & Milone, M., Mar 2020, In : Neuromuscular Disorders. 30, 3, p. 236-240 5 p.

    Research output: Contribution to journalArticle

  • Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner

    Ohkawara, B., Shen, X. M., Selcen, D., Nazim, M., Bril, V., Tarnopolsky, M. A., Brady, L., Fukami, S., Amato, A. A., Yis, U., Ohno, K. & Engel, A. G., Apr 2020, In : JCI Insight. 5, 7, e132023.

    Research output: Contribution to journalArticle

    Open Access
  • 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