Andrew G Engel, MD

  • 25420 Citations
  • 90 Scopus h-Index
1960 …2019
If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Dive into the research topics where Andrew G Engel is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Congenital Myasthenic Syndromes Medicine & Life Sciences
Cholinergic Receptors Medicine & Life Sciences
Muscles Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Muscle Weakness Medicine & Life Sciences
Neuromuscular Junction Medicine & Life Sciences
Myasthenia Gravis Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 1977 2016

Congenital Myasthenic Syndromes
Muscular Diseases
Cholinergic Receptors
Electron Microscopy

Research Output 1960 2019

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

Congenital Myasthenic Syndromes
Congenital Structural Myopathies
Muscular Dystrophies
Muscle Weakness

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
Congenital Myasthenic Syndromes
Action Potentials
2 Citations (Scopus)

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

Congenital Myasthenic Syndromes
Knowledge Bases
Genetic Databases
Computer Systems
1 Citation (Scopus)

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

Congenital Myasthenic Syndromes
Diagnostic Errors

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up

Durmus, H., Shen, X. M., Serdaroglu-Oflazer, P., Kara, B., Parman-Gulsen, Y., Ozdemir, C., Brengman, J., Deymeer, F. & Engel, A. G., Jan 1 2018, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Cholinergic Receptors
Choline Deficiency
Neuromuscular Junction Diseases