Andrew G Engel, MD

Research output

Research output per year 1960 2020

• 26837 Citations
• 93 Scopus h-Index
• 364 Article
• 29 Review article
• 17 Letter
• 14 Chapter
• 20 More
  • 9 Comment/debate
  • 8 Editorial
  • 2 Conference contribution
  • 1 Foreword/postscript

Research output per year

Research output per year

Search results

• 2020

  A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating

  Shen, X. M., Di, L., Shen, S., Zhao, Y., Neumeyer, A. M., Selcen, D., Sine, S. M. & Engel, A. G., Sep 2020, In: Experimental Neurology. 331, 113375.

  Research output: Contribution to journal › Article › peer-review

  • Myasthenic Syndrome, Congenital, Fast-Channel 100%
  • Cholinergic Receptors 95%
  • Mutation 48%
  • Bungarotoxins 29%
  • Nonsense Codon 24%
  2 Scopus citations

• 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 journal › Article › peer-review

  • Vacuolar myopathy 100%
  • Muscular Diseases 61%
  • Vacuoles 60%
  • Heat-Shock Proteins 59%
  • Distal Myopathies 46%
  4 Scopus citations

• 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 journal › Article › peer-review

  Open Access

  • Congenital Myasthenic Syndromes 100%
  • Agrin 97%
  • Cholinergic Receptors 69%
  • Cluster Analysis 56%
  • Mutation 22%
  3 Scopus citations

• Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia

  Di, L., Chen, H., Lu, Y., Selcen, D., Engel, A. G., Da, Y. & Shen, X. M., Nov 17 2020, In: Neurology. 95, 20, p. e2781-e2793

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Action Potentials 80%
  • Muscles 60%
  • Cholinergic Receptors 55%
  • Therapeutics 18%
  2 Scopus citations
• 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 2019, In: Neuromuscular Disorders. 29, 8, p. 614-617 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Congenital Structural Myopathies 99%
  • Muscular Dystrophies 37%
  • Mutation 35%
  • Microelectrodes 35%
  5 Scopus citations

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

  Espinoza, I. O., Reynoso, C., Chávez, G. & Engel, A. G., Jun 4 2019, In: Medwave. 19, 5, p. e7645

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • peripheral membrane protein 43K 100%
  • Congenital Myasthenic Syndromes 89%
  • Parents 42%
  • Eyelids 39%
  • Action Potentials 34%
  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 journal › Article › peer-review

  Open Access

  • Congenital Myasthenic Syndromes 100%
  • Hydrophobic and Hydrophilic Interactions 69%
  • Terminology 63%
  • Kinetics 45%
  • Activation Analysis 44%
  3 Scopus citations
• 2018

  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 › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Terminology 63%
  • Knowledge Bases 25%
  • Data Science 14%
  • Genetic Databases 13%
  8 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 journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Neurology 66%
  • Diagnostic Errors 15%
  • Thymectomy 13%
  • Myasthenia Gravis 12%
  13 Scopus citations

• 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., Apr 2018, In: Neuromuscular Disorders. 28, 4, p. 315-322 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Turkey 67%
  • Myasthenic Syndrome, Congenital, Fast-Channel 16%
  • Cholinergic Receptors 15%
  • Choline Deficiency 11%
  11 Scopus citations

• Correction to: The Therapy of Congenital Myasthenic Syndromes (Neurotherapeutics, (2007), 4, 2, (252-257), 10.1016/j.nurt.2007.01.001)

  Engel, A. G., Jan 1 2018, (Accepted/In press) In: Neurotherapeutics.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Choline 67%
  • Transferases 64%
  • Parents 47%
  • Child 27%

• Corrigendum to “Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up” [Neuromuscular Disorders 28/4 (2018) 315–322] (Neuromuscular Disorders (2018) 28(4) (315–322), (S0960896617312324) (10.1016/j.nmd.2017.11.013))

  Durmus, H., Shen, X. M., Serdaroglu-Oflazer, P., Kara, B., Parman-Gulsen, Y., Ozdemir, C., Brengman, J., Deymeer, F. & Engel, A. G., Oct 2018, In: Neuromuscular Disorders. 28, 10, p. 896 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Turkey 67%
  • Emotions 49%
  • Mutation 35%

• Genetic basis and phenotypic features of congenital myasthenic syndromes

  Engel, A. G., Jan 1 2018, Neurogenetics, Part II. Geschwind, D. H., Paulson, H. L. & Klein, C. (eds.). Elsevier B.V., p. 565-589 25 p. (Handbook of Clinical Neurology; vol. 148).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Congenital Myasthenic Syndromes 100%
  • Mutation 28%
  • musk 20%
  • Genes 15%
  • Exome 15%
  24 Scopus citations

• Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit

  Shen, X. M., Brengman, J. M., Shen, S., Durmus, H., Preethish-Kumar, V., Yuceyar, N., Vengalil, S., Nalini, A., Deymeer, F., Sine, S. M. & Engel, A. G., Jan 25 2018, In: JCI Insight. 3, 2

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Myasthenic Syndromes 100%
  • Cholinergic Receptors 69%
  • Mutation 35%
  • Cysteine Loop Ligand-Gated Ion Channel Receptors 27%
  • Muscles 9%
  2 Scopus citations

• Myopathy with SQSTM1 and TIA1 variants: Clinical and pathological features

  Niu, Z., Pontifex, C. S., Berini, S., Hamilton, L. E., Naddaf, E., Wieben, E., Aleff, R. A., Martens, K., Gruber, A., Engel, A. G., Pfeffer, G. & Milone, M., Mar 19 2018, In: Frontiers in Neurology. 9, MAR, 147.

  Research output: Contribution to journal › Article › peer-review

  • Muscular Diseases 100%
  • Myofibrillar Myopathy 81%
  • Nonaka type Distal myopathy 53%
  • Distal Myopathies 25%
  • Chromosomes 24%
  11 Scopus citations

• The unfolding landscape of the congenital myasthenic syndromes

  Engel, A. G., Shen, X. M. & Selcen, D., 2018, In: Annals of the New York Academy of Sciences. 1413, 1, p. 25-34 10 p.

  Research output: Contribution to journal › Review article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Sequencing Method 95%
  • Neuromuscular 88%
  • Acetylcholine 67%
  • Defects 62%
  6 Scopus citations
• 2017

  Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

  Aharoni, S., Sadeh, M., Shapira, Y., Edvardson, S., Daana, M., Dor-Wollman, T., Mimouni-Bloch, A., Halevy, A., Cohen, R., Sagie, L., Argov, Z., Rabie, M., Spiegel, R., Chervinsky, I., Orenstein, N., Engel, A. G. & Nevo, Y., Feb 1 2017, In: Neuromuscular Disorders. 27, 2, p. 136-140 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Israel 70%
  • Mutation 35%
  • Islam 8%
  • Medical Records 5%
  19 Scopus citations

• Congenital Myasthenic Syndromes

  Selcen, D. & Engel, A. G., May 11 2017, Swaiman's Pediatric Neurology: Principles and Practice: Sixth Edition. Elsevier Inc., p. 1092-1097 6 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• Congenital Myasthenic Syndromes in 2018

  Engel, A. G., Aug 1 2017, In: Current neurology and neuroscience reports. 18, 8, 46.

  Research output: Contribution to journal › Review article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Vesicle-Associated Membrane Protein 1 23%
  • Synaptotagmin II 22%
  • citrate-binding transport protein 22%
  • choline transporter 20%
  31 Scopus citations

• Congenital myopathy associated with the triadin knockout syndrome

  Engel, A. G., Redhage, K. R., Tester, D. J., Ackerman, M. J. & Selcen, D., Mar 21 2017, In: Neurology. 88, 12, p. 1153-1156 4 p.

  Research output: Contribution to journal › Article › peer-review

  • triadin 100%
  • Myotonia Congenita 81%
  • Skeletal Muscle 19%
  • Sarcoplasmic Reticulum 14%
  • Electron Microscopy 10%
  9 Scopus citations

• Genetic Landscape of Congenital Myasthenic Syndromes from Turkey: Novel Mutations and Clinical Insights

  Yiş, U., Becker, K., Kurul, S. H., Uyanik, G., Bayram, E., Halilolu, G., Polat, A. I., Ayanolu, M., Okur, D., Tosun, A. F., Serdarolu, G., Yilmaz, S., Topalolu, H., Anlar, B., Cirak, S. & Engel, A. G., Jul 1 2017, In: Journal of child neurology. 32, 8, p. 759-765 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Turkey 67%
  • Mutation 35%
  • Neuromuscular Junction Diseases 20%
  • Cholinesterase Inhibitors 14%
  11 Scopus citations

• Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

  Shen, X. M., Scola, R. H., Lorenzoni, P. J., Kay, C. S. K., Werneck, L. C., Brengman, J., Selcen, D. & Engel, A. G., Feb 1 2017, In: Annals of Clinical and Translational Neurology. 4, 2, p. 130-138 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Vesicle-Associated Membrane Protein 1 100%
  • Congenital Myasthenic Syndromes 86%
  • Protein Isoforms 44%
  • Mutation 30%
  • Synaptic Vesicles 23%
  26 Scopus citations
• 2016

  Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations

  Liewluck, T., Milone, M., Tian, X., Engel, A. G., Staff, N. P. & Wong, L. J., Jun 1 2016, In: Muscle and Nerve. 53, 6, p. 984-988 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Minicore Myopathy with External Ophthalmoplegia 100%
  • Scoliosis 59%
  • Respiratory Insufficiency 51%
  • Joints 38%
  • Muscular Diseases 35%
  9 Scopus citations

• Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine

  Burns, T. M., Smith, G. A., Allen, J. A., Amato, A. A., Arnold, W. D., Barohn, R., Benatar, M., Bird, S. J., Bromberg, M., Chahin, N., Ciafaloni, E., Cohen, J. A., Corse, A., Crum, B. A., David, W. S., Dimberg, E., De Sousa, E. A., Donofrio, P. D., Dyck, P. J. B., Engel, A. G. & 86 others, Ensrud, E. R., Ferrante, M., Freimer, M., Gable, K. L., Gibson, S., Gilchrist, J. M., Goldstein, J. M., Gooch, C. L., Goodman, B. P., Gorelov, D., Gospe, S. M., Goyal, N. A., Guidon, A. C., Guptill, J. T., Gutmann, L., Gutmann, L., Gwathmey, K., Harati, Y., Harper, C. M., Hehir, M. K., Hobson-Webb, L. D., Howard, J. F., Jackson, C. E., Johnson, N., Jones, S. M., Juel, V. C., Kaminski, H. J., Karam, C., Kennelly, K. D., Khella, S., Khoury, J., Kincaid, J. C., Kissel, J. T., Kolb, N., Lacomis, D., Ladha, S., Larriviere, D., Lewis, R. A., Li, Y., Litchy, W. J., Logigian, E., Lou, J. S., Macgowen, D. J. L., Maselli, R., Massey, J. M., Mauermann, M. L., Mathews, K. D., Meriggioli, M. N., Miller, R. G., Moon, J. S., Mozaffar, T., Nations, S. P., Nowak, R. J., Ostrow, L. W., Pascuzzi, R. M., Peltier, A., Ruzhansky, K., Richman, D. P., Ross, M. A., Rubin, D. I., Russell, J. A., Sachs, G. M., Salajegheh, M. K., Saperstein, D. S., Scelsa, S., Selcen, D., Shaibani, A., Shieh, P. B., Silvestri, N. J., Singleton, J. R., Smith, B. E., So, Y. T., Solorzano, G., Sorenson, E. J., Srinivasen, J., Tavee, J., Tawil, R., Thaisetthawatkul, P., Thornton, C., Trivedi, J., Vernino, S., Wang, A. K., Webb, T. A., Weiss, M. D., Windebank, A. J. & Wolfe, G. I., Feb 1 2016, In: Muscle and Nerve. 53, 2, p. 165-168 4 p.

  Research output: Contribution to journal › Editorial › peer-review
  16 Scopus citations

• IntSplice: Prediction of the splicing consequences of intronic single-nucleotide variations in the human genome

  Shibata, A., Okuno, T., Rahman, M. A., Azuma, Y., Takeda, J. I., Masuda, A., Selcen, D., Engel, A. G. & Ohno, K., Jul 1 2016, In: Journal of Human Genetics. 61, 7, p. 633-640 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Human Genome 100%
  • Nucleotides 76%
  • Support Vector Machine 46%
  • Congenital Myasthenic Syndromes 30%
  • Databases 22%
  14 Scopus citations

• Investigation of congenital myasthenia reveals functional asymmetry of invariant acetylcholine receptor (AChR) cys-loop aspartates

  Shen, X. M., Brengman, J., Neubauer, D., Sine, S. M. & Engel, A. G., Feb 12 2016, In: Journal of Biological Chemistry. 291, 7, p. 3291-3301 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Cholinergic Receptors 69%
  • Aspartate 69%
  • Acetylcholine 67%
  • Asymmetry 66%
  6 Scopus citations

• Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

  Engel, A. G., Selcen, D., Shen, X. M., Milone, M. & Harper, C. M., 2016, In: Neurology: Genetics. 2, 5, e105.

  Research output: Contribution to journal › Article › peer-review

  • Syntaxin 1 100%
  • Microcephaly 79%
  • Exome 26%
  • Neuromuscular Junction 25%
  • Electron Microscopy 18%
  33 Scopus citations

• Microvascular alterations and the role of complement in dermatomyositis

  Lahoria, R., Selcen, D. & Engel, A. G., Jul 1 2016, In: Brain. 139, 7, p. 1891-1903 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Dermatomyositis 100%
  • Complement Membrane Attack Complex 61%
  • Capillaries 43%
  • Classical Complement Pathway 38%
  • Immunoglobulin M 32%
  33 Scopus citations

• Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

  Shen, X. M., Okuno, T., Milone, M., Otsuka, K., Takahashi, K., Komaki, H., Giles, E., Ohno, K. & Engel, A. G., Oct 1 2016, In: Human mutation. 37, 10, p. 1051-1059 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Valine 100%
  • Cholinergic Receptors 92%
  • Muscles 50%
  • Mutation 47%
  • Leucine 28%
  15 Scopus citations

• Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

  O'Grady, G. L., Verschuuren, C., Yuen, M., Webster, R., Menezes, M., Fock, J. M., Pride, N., Best, H. A., Benavides Damm, T., Turner, C., Lek, M., Engel, A. G., North, K. N., Clarke, N. F., Macarthur, D. G., Kamsteeg, E. J. & Cooper, S. T., Oct 4 2016, In: Neurology. 87, 14, p. 1442-1448 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Vesicular Acetylcholine Transport Proteins 99%
  • Pyridostigmine Bromide 13%
  • Ophthalmoplegia 11%
  • Isometric Contraction 10%
  28 Scopus citations
• 2015

  Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling

  Otsuka, K., Ito, M., Ohkawara, B., Masuda, A., Kawakami, Y., Sahashi, K., Nishida, H., Mabuchi, N., Takano, A., Engel, A. G. & Ohno, K., Sep 10 2015, In: Scientific reports. 5, 13928.

  Research output: Contribution to journal › Article › peer-review

  • Agrin 100%
  • Autoantibodies 60%
  • Collagen 49%
  • Myasthenia Gravis 43%
  • Immunoglobulin G 35%
  46 Scopus citations

• Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment

  Engel, A. G., Shen, X. M., Selcen, D. & Sine, S. M., Apr 1 2015, In: The Lancet Neurology. 14, 4, p. 420-434 15 p.

  Research output: Contribution to journal › Review article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Motor Endplate 15%
  • Cholinergic Agonists 13%
  • Adrenergic Agonists 13%
  • Exome 12%
  243 Scopus citations

• Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

  Guo, Y., Menezes, M. J., Menezes, M. P., Liang, J., Li, D., Riley, L. G., Clarke, N. F., Andrews, P. I., Tian, L., Webster, R., Wang, F., Liu, X., Shen, Y., Thorburn, D. R., Keating, B. J., Engel, A., Hakonarson, H., Christodoulou, J. & Xu, X., Mar 1 2015, In: Neuromuscular Disorders. 25, 3, p. 257-261 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Delayed Diagnosis 69%
  • Whole Exome Sequencing 37%
  • Enzymes 34%
  • Mitochondrial Myopathies 15%
  8 Scopus citations

• Electromyographic findings in 37 patients with adult-onset acid maltase deficiency

  Kassardjian, C. D., Engel, A. G. & Sorenson, E. J., May 1 2015, In: Muscle and Nerve. 51, 5, p. 759-761 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Myotonia 100%
  • Glycogen Storage Disease Type II 98%
  • Fascia Lata 21%
  • Paraspinal Muscles 20%
  • Diaphragm 15%
  18 Scopus citations

• Impaired synaptic development, Maintenance, and neuromuscular transmission in LRP4-related myasthenia

  Selcen, D., Ohkawara, B., Shen, X. M., McEvoy, K., Ohno, K. & Engel, A. G., Aug 1 2015, In: JAMA neurology. 72, 8, p. 889-896 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Lipoproteins 100%
  • Maintenance 74%
  • Mutation 59%
  • Exome 42%
  • Proteins 38%
  35 Scopus citations

• Reply

  Kassardjian, C. D., Sorenson, E. J. & Engel, A. G., Dec 1 2015, In: Muscle and Nerve. 52, 6, p. 1141-1142 2 p.

  Research output: Contribution to journal › Letter › peer-review

• SRSF₁ and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome

  Rahman, M. A., Azuma, Y., Nasrin, F., Takeda, J. I., Nazim, M., Ahsan, K. B., Masuda, A., Engel, A. G. & Ohno, K., Aug 18 2015, In: Scientific reports. 5, 13208.

  Research output: Contribution to journal › Article › peer-review

  • Heterogeneous-Nuclear Ribonucleoprotein Group F-H 100%
  • Congenital Myasthenic Syndromes 83%
  • Endplate Acetylcholinesterase Deficiency 44%
  • Exons 43%
  • Mutation 29%
  17 Scopus citations
• 2014

  A new muscle glycogen storage disease associated with glycogenin-1 deficiency

  Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Orhan Akman, H., Kornblum, C., Van Bergh, P. D., Romero, N. B., Engel, A. G., DiMauro, S. & Oldfors, A., Dec 1 2014, In: Annals of neurology. 76, 6, p. 891-898 8 p.

  Research output: Contribution to journal › Article › peer-review

  • glycogenin 100%
  • Glycogen Storage Disease 75%
  • Muscles 31%
  • Glycogen Synthase 23%
  • Skeletal Muscle 14%
  55 Scopus citations

• A new muscle glycogen storage disease associated with glycogenin-1 deficiency

  Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S. & Oldfors, A., Dec 1 2014, In: Annals of Neurology. 76, 6, p. 891-898 8 p.

  Research output: Contribution to journal › Article › peer-review

  • glycogenin 100%
  • Glycogen Storage Disease 75%
  • Muscles 31%
  • Glycogen Synthase 23%
  • Skeletal Muscle 14%

• Congenital myasthenic syndromes

  Engel, A. G., Nov 1 2014, Neuromuscular Disorders in Clinical Practice. Springer New York, Vol. 9781461465676. p. 1111-1127 17 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Neuromuscular Junction Diseases 100%
  • Congenital Myasthenic Syndromes 99%
  2 Scopus citations

• Congenital Myasthenic Syndromes

  Engel, A. G., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 1191-1208 18 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Congenital Myasthenic Syndromes 100%
  • Plectin 41%
  • peripheral membrane protein 43K 22%
  • Congenital Structural Myopathies 19%
  • Agrin 19%

• Congenital Myasthenic Syndromes

  Engel, A. G., Dec 3 2014, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Elsevier Inc., p. 456-481 26 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Congenital Myasthenic Syndromes 100%
  • peripheral membrane protein 43K 27%
  • Plectin 26%
  • Agrin 24%
  • Choline O-Acetyltransferase 19%
  2 Scopus citations

• DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies

  Selcen, D., Shen, X. M., Brengman, J., Li, Y., Stans, A. A., Wieben, E. & Engel, A. G., May 20 2014, In: Neurology. 82, 20, p. 1822-1830 9 p.

  Research output: Contribution to journal › Article › peer-review

  • dolichyl-phosphate alpha-N-acetylglucosaminyltransferase 100%
  • Muscular Diseases 45%
  • Synapses 8%
  • Muscles 8%
  • Enzymes 7%
  35 Scopus citations

• Inclusion-body myositis presenting with facial diplegia

  Ghosh, P. S., Laughlin, R. S. & Engel, A. G., Feb 2014, In: Muscle and Nerve. 49, 2, p. 287-289 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Inclusion Body Myositis 100%
  • Fingers 24%
  • Muscles 24%
  • Biopsy 16%
  • Creatine Kinase 14%
  9 Scopus citations

• LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

  Ohkawara, B., Cabrera-Serrano, M., Nakata, T., Milone, M., Asai, N., Ito, K., Ito, M., Masuda, A., Ito, Y., Engel, A. G. & Ohno, K., Apr 1 2014, In: Human molecular genetics. 23, 7, p. 1856-1868 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Myasthenic Syndromes 100%
  • Agrin 97%
  • Neuromuscular Junction 36%
  • Mutation 35%
  • Syndactyly Cenani Lenz type 33%
  71 Scopus citations

• Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

  Shen, X. M., Selcen, D., Brengman, J. & Engel, A. G., Dec 1 2014, In: Neurology. 83, 24, p. 2247-2255 9 p.

  Research output: Contribution to journal › Article › peer-review

  • SNARE Proteins 100%
  • Ataxia 80%
  • Intellectual Disability 71%
  • Exocytosis 48%
  • Synaptic Vesicles 37%
  79 Scopus citations

• Myasthenic Syndromes, Congenital

  Engel, A. G., Jan 1 2014, Encyclopedia of the Neurological Sciences. Elsevier Inc., p. 234-239 6 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Congenital Myasthenic Syndromes 100%
  • peripheral membrane protein 43K 37%
  • Agrin 32%
  • fructose-6-phosphate 31%
  • Motor Endplate 30%

• PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

  Régal, L., Shen, X. M., Selcen, D., Verhille, C., Meulemans, S., Creemers, J. W. M. & Engel, A. G., Apr 8 2014, In: Neurology. 82, 14, p. 1254-1260 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Hypotonia-Cystinuria Syndrome 100%
  • Cystinuria 71%
  • Muscle Weakness 48%
  • Pyridostigmine Bromide 40%
  • Congenital Myasthenic Syndromes 29%
  35 Scopus citations
• 2013

  GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity

  Selcen, D., Shen, X. M., Milone, M., Brengman, J., Ohno, K., Deymeer, F., Finkel, R., Rowin, J. & Engel, A. G., Jul 23 2013, In: Neurology. 81, 4, p. 370-378 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Vacuoles 100%
  • Muscles 85%
  • Mutation 79%
  • Extremities 69%
  • Intercostal Muscles 68%
  38 Scopus citations

• HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA

  Rahman, M. A., Masuda, A., Ohe, K., Ito, M., Hutchinson, D. O., Mayeda, A., Engel, A. G. & Ohno, K., 2013, In: Scientific reports. 3, 2931.

  Research output: Contribution to journal › Article › peer-review

  • Heterogeneous-Nuclear Ribonucleoproteins 100%
  • RNA Precursors 77%
  • Exons 56%
  • Heterogeneous-Nuclear Ribonucleoprotein L 53%
  • RNA-Binding Proteins 22%
  26 Scopus citations