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Andrew G Engel, MD

  • 25420 Citations
  • 90 Scopus h-Index
1960 …2019
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  • 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

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Projects 1977 2016

Congenital Myasthenic Syndromes

Engel, A. G. & Selcen, D.

Project: Research project

ELECTRON MICROSCOPY OF MYOPATHIES

Engel, A. G. & Selcen, D.

National Institutes of Health

5/1/77 → 4/30/16

Project: Research project

Congenital Myasthenic Syndromes
Muscular Diseases
Cholinergic Receptors
Electron Microscopy
Muscles

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 journal › Article

Congenital Myasthenic Syndromes
Congenital Structural Myopathies
Mutation
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 journal › Article

Open Access
Congenital Myasthenic Syndromes
Parents
Eyelids
Mutation
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 journal › Article

Congenital Myasthenic Syndromes
Terminology
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 journal › Article

Congenital Myasthenic Syndromes
Neurology
Therapeutics
Diagnostic Errors
Thymectomy

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 journal › Article

Congenital Myasthenic Syndromes
Turkey
Cholinergic Receptors
Choline Deficiency
Neuromuscular Junction Diseases