Research Output per year
Research Output 1960 2019
- 1 - 50 out of 440 results
- Publication Year, Title (descending)
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
Síndrome miasténico congénito por deficiencia de rapsina: reporte de caso con nueva mutación y heterocigosidad compuesta
Research output: Contribution to journal › Article
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
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 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-e1777Research output: Contribution to journal › Article
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
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
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 1 2018, In : Neuromuscular Disorders. 28, 10, 1 p.Research output: Contribution to journal › Comment/debate
Genetic basis and phenotypic features of congenital myasthenic syndromes
Engel, A. G., Jan 1 2018, Neurogenetics, Part II. Elsevier B.V., p. 565-589 25 p. (Handbook of Clinical Neurology; vol. 148).Research output: Chapter in Book/Report/Conference proceeding › Chapter
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, 2Research output: Contribution to journal › Article
Myopathy with SQSTM1 and TIA1 variants: Clinical and pathological features
Niu, Z., Pontifex, C. S., Berini, S., Hamilton, L. E., Naddaf, E., Wieben, E. D., 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
The unfolding landscape of the congenital myasthenic syndromes
Engel, A. G., Shen, X. M. & Selcen, D., Jan 1 2018, (Accepted/In press) In : Annals of the New York Academy of Sciences.Research output: Contribution to journal › Article
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
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
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
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
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
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
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, , Feb 1 2016, In : Muscle and Nerve. 53, 2, p. 165-168 4 p.Research output: Contribution to journal › Article
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
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
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., Jan 1 2016, In : Neurology: Genetics. 2, 5, e105.Research output: Contribution to journal › Article
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
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
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
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
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 › Article
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. G., 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
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
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
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 › Article
SRSF<inf>1</inf> 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
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
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
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
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
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
DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies
Selcen, D., Shen, X. M., Brengman, J., Li, Y., Stans, A. A., Wieben, E. D. & Engel, A. G., May 20 2014, In : Neurology. 82, 20, p. 1822-1830 9 p.Research output: Contribution to journal › Article
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
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
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
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
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
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
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
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 › Article
Message from the editors to our reviewers
Gross, R. A., Knopman, D. S., Cascino, G. D., Corboy, J. R., Elkind, M. S. V., Engel, A. G., Mink, J. W., Ransohoff, R. M., Uitti, R. J. & Worrall, B. B., Jan 1 2013, In : Neurology. 80, 1, p. 5-12 8 p.Research output: Contribution to journal › Article
Myofibrillar myopathies
Selcen, D. & Engel, A. G., 2013, Muscular Dystrophy: Causes and Management. Nova Science Publishers, Inc., p. 247-265 19 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
Nilsson, J., Schoser, B., Laforet, P., Kalev, O., Lindberg, C., Romero, N. B., Dávila Lõpez, M., Akman, H. O., Wahbi, K., Iglseder, S., Eggers, C., Engel, A. G., Dimauro, S. & Oldfors, A., Dec 2013, In : Annals of Neurology. 74, 6, p. 914-919 6 p.Research output: Contribution to journal › Article