Andrew G Engel, MD

Research output

Research output per year 1960 2020

• 26699 Citations
• 93 Scopus h-Index
• 363 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
  • Cholinergic Receptors
  • Mutation
  • Bungarotoxins
  • Nonsense Codon
  1 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
  • Muscular Diseases
  • Vacuoles
  • Heat-Shock Proteins
  • Distal Myopathies
  2 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
  • Agrin
  • Cholinergic Receptors
  • Cluster Analysis
  • Mutation
  3 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
  • Congenital Structural Myopathies
  • Muscular Dystrophies
  • Mutation
  • Microelectrodes
  4 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
  • Congenital Myasthenic Syndromes
  • Parents
  • Eyelids
  • Action Potentials
  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
  • Hydrophobic and Hydrophilic Interactions
  • Terminology
  • Kinetics
  • Activation Analysis
  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
  • Terminology
  • Knowledge Bases
  • Data Science
  • Genetic Databases
  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
  • Neurology
  • Diagnostic Errors
  • Thymectomy
  • Myasthenia Gravis
  12 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
  • Turkey
  • Myasthenic Syndrome, Congenital, Fast-Channel
  • Cholinergic Receptors
  • Choline Deficiency
  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
  • Choline
  • Transferases
  • Parents
  • Child

• 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
  • Turkey
  • Emotions
  • Mutation

• 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
  • Mutation
  • musk
  • Exome
  • Genes
  22 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
  • Cholinergic Receptors
  • Mutation
  • Cysteine Loop Ligand-Gated Ion Channel Receptors
  • Muscles
  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
  • Myofibrillar Myopathy
  • Nonaka type Distal myopathy
  • Distal Myopathies
  • Chromosomes
  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
  • Syndrome
  • Synaptic Vesicles
  • Defects
  • Phenotype
  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
  • Israel
  • Mutation
  • Islam
  • Medical Records
  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
  • Vesicle-Associated Membrane Protein 1
  • Synaptotagmin II
  • citrate-binding transport protein
  • choline transporter
  29 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
  • Myotonia Congenita
  • Skeletal Muscle
  • Sarcoplasmic Reticulum
  • Electron Microscopy
  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
  • Turkey
  • Mutation
  • Neuromuscular Junction Diseases
  • Cholinesterase Inhibitors
  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
  • Congenital Myasthenic Syndromes
  • Protein Isoforms
  • Mutation
  • Synaptic Vesicles
  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
  • Scoliosis
  • Respiratory Insufficiency
  • Joints
  • Muscular Diseases
  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
  • Nucleotides
  • Support Vector Machine
  • Congenital Myasthenic Syndromes
  • Databases
  13 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
  • Cholinergic Receptors
  • Aspartic Acid
  • Cysteine Loop Ligand-Gated Ion Channel Receptors
  • Mutation
  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
  • Microcephaly
  • Exome
  • Neuromuscular Junction
  • Electron Microscopy
  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
  • Complement Membrane Attack Complex
  • Capillaries
  • Classical Complement Pathway
  • Immunoglobulin M
  29 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
  • Cholinergic Receptors
  • Muscles
  • Mutation
  • Leucine
  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
  • Vesicular Acetylcholine Transport Proteins
  • Pyridostigmine Bromide
  • Ophthalmoplegia
  • Whole Exome Sequencing
  27 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
  • Autoantibodies
  • Collagen
  • Myasthenia Gravis
  • Immunoglobulin G
  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
  • Motor Endplate
  • Cholinergic Agonists
  • Adrenergic Agonists
  • Exome
  235 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
  • Whole Exome Sequencing
  • Enzymes
  • Mitochondrial Myopathies
  • Mitochondrial Diseases
  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
  • Glycogen Storage Disease Type II
  • Fascia Lata
  • Paraspinal Muscles
  • Diaphragm
  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

  • Protein
  • Lipoproteins
  • Mutation
  • Maintenance
  • Therapy
  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
  • Congenital Myasthenic Syndromes
  • Endplate Acetylcholinesterase Deficiency
  • Exons
  • Mutation
  16 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
  • Glycogen Storage Disease
  • Muscles
  • Glycogen Synthase
  • Skeletal Muscle
  53 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
  • Glycogen Storage Disease
  • Muscles
  • Glycogen Synthase
  • Skeletal Muscle

• 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
  • Congenital Myasthenic Syndromes
  2 Scopus citations

• 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
  • peripheral membrane protein 43K
  • Plectin
  • Agrin
  • Choline O-Acetyltransferase
  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
  • Plectin
  • peripheral membrane protein 43K
  • Congenital Structural Myopathies
  • Agrin

• 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
  • Phosphate
  • Muscular Diseases
  • Protein
  • Enzymes
  35 Scopus citations

• Inclusion-body myositis presenting with facial diplegia

  Ghosh, P. S., Laughlin, R. S. & Engel, A. G., Feb 1 2014, In: Muscle and Nerve. 49, 2, p. 287-289 3 p.

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

  • Inclusion Body Myositis
  • Fingers
  • Muscles
  • Biopsy
  • Creatine Kinase
  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
  • Agrin
  • Neuromuscular Junction
  • Mutation
  • Syndactyly Cenani Lenz type
  70 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
  • Ataxia
  • Intellectual Disability
  • Exocytosis
  • Synaptic Vesicles
  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
  • peripheral membrane protein 43K
  • Agrin
  • fructose-6-phosphate
  • Motor Endplate

• 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
  • Cystinuria
  • Muscle Weakness
  • Deficiency
  • Pyridostigmine Bromide
  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

  • Mutation
  • Vacuoles
  • Muscles
  • Extremities
  • Intercostal Muscles
  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
  • RNA Precursors
  • Exons
  • Heterogeneous-Nuclear Ribonucleoprotein L
  • RNA-Binding Proteins
  26 Scopus citations

• Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

  Maggi, L., Brugnoni, R., Scaioli, V., Winden, T. L., Morandi, L., Engel, A. G., Mantegazza, R. & Bernasconi, P., Nov 2013, In: Journal of Neurology. 260, 11, p. 2894-2896 3 p.

  Research output: Contribution to journal › Letter › peer-review
  19 Scopus citations