Andrew G Engel, MD

  • 25616 Citations
  • 90 Scopus h-Index
1960 …2019
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Research Output 1960 2019

2019
1 Citation (Scopus)

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
Mutation
Muscular Dystrophies
Muscle Weakness
1 Citation (Scopus)

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
Parents
Eyelids
Mutation
Action Potentials

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 journalArticle

Open Access
Congenital Myasthenic Syndromes
Hydrophobic and Hydrophilic Interactions
Terminology
Activation Analysis
Bungarotoxins
2018
3 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
Terminology
Knowledge Bases
Genetic Databases
Computer Systems
3 Citations (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
Neurology
Therapeutics
Diagnostic Errors
Thymectomy
1 Citation (Scopus)

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
Turkey
Cholinergic Receptors
Choline Deficiency
Neuromuscular Junction Diseases
Congenital Myasthenic Syndromes
Transferases
Choline
Parents
Therapeutics

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 journalComment/debate

Congenital Myasthenic Syndromes
Turkey
Emotions
Mutation
corrigendum
9 Citations (Scopus)

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 proceedingChapter

Congenital Myasthenic Syndromes
Mutation
Genes
Exome
Inborn Genetic Diseases
1 Citation (Scopus)

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 journalArticle

Open Access
Congenital Myasthenic Syndromes
Cholinergic Receptors
Mutation
Cysteine Loop Ligand-Gated Ion Channel Receptors
Muscles
7 Citations (Scopus)

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 journalArticle

Muscular Diseases
Distal Myopathies
Chromosomes
Exome
Phenotype
5 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Synaptic Vesicles
Defects
Exocytosis
Acetylcholine
2017
13 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Israel
Mutation
Islam
Medical Records

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 proceedingChapter

Congenital Myasthenic Syndromes
7 Citations (Scopus)

Congenital Myasthenic Syndromes in 2018

Engel, A. G., Aug 1 2017, In : Current Neurology and Neuroscience Reports. 18, 8, 46.

Research output: Contribution to journalReview article

Congenital Myasthenic Syndromes
Vesicle-Associated Membrane Protein 1
Synaptotagmin II
Agrin
Exome
7 Citations (Scopus)

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 journalArticle

Myotonia Congenita
Skeletal Muscle
Sarcoplasmic Reticulum
Electron Microscopy
Deltoid Muscle
4 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Turkey
Mutation
Neuromuscular Junction Diseases
Cholinesterase Inhibitors
17 Citations (Scopus)

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 journalArticle

Vesicle-Associated Membrane Protein 1
Congenital Myasthenic Syndromes
Protein Isoforms
Mutation
Synaptic Vesicles
2016
7 Citations (Scopus)

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 journalArticle

Scoliosis
Respiratory Insufficiency
Joints
Muscular Diseases
Mutation
11 Citations (Scopus)

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., 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. M., 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 journalArticle

10 Citations (Scopus)

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 journalArticle

Human Genome
Nucleotides
Congenital Myasthenic Syndromes
Databases
Mutation
4 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Cholinergic Receptors
Aspartic Acid
Cysteine Loop Ligand-Gated Ion Channel Receptors
Mutation
25 Citations (Scopus)

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 journalArticle

Syntaxin 1
Microcephaly
Exome
Neuromuscular Junction
Mutation
20 Citations (Scopus)

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 journalArticle

Dermatomyositis
Complement Membrane Attack Complex
Classical Complement Pathway
Immunoglobulin M
Blood Vessels
7 Citations (Scopus)

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 journalArticle

Valine
Cholinergic Receptors
Muscles
Mutation
Leucine
21 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Vesicular Acetylcholine Transport Proteins
Pyridostigmine Bromide
Exome
Ophthalmoplegia
2015
32 Citations (Scopus)

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 journalArticle

Agrin
Autoantibodies
Collagen
Myasthenia Gravis
Immunoglobulin G
168 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Therapeutics
Motor Endplate
Exome
Cholinergic Agonists
6 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Delayed Diagnosis
Exome
Enzymes
Mitochondrial Myopathies
13 Citations (Scopus)

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 journalArticle

Myotonia
Glycogen Storage Disease Type II
Fascia Lata
Paraspinal Muscles
Diaphragm
29 Citations (Scopus)

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 journalArticle

Lipoproteins
Maintenance
Mutation
Exome
Proteins

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 journalArticle

Myotonia
Glycogen Storage Disease Type II
Electromyography
11 Citations (Scopus)

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 journalArticle

Heterogeneous-Nuclear Ribonucleoprotein Group F-H
Congenital Myasthenic Syndromes
Exons
Mutation
RNA-Binding Proteins
2014
42 Citations (Scopus)

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 journalArticle

Glycogen Storage Disease
Muscles
Glycogen Synthase
Skeletal Muscle
Muscular Diseases

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 journalArticle

Glycogen Storage Disease
Muscles
Glycogen Synthase
Skeletal Muscle
Muscular Diseases
1 Citation (Scopus)

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 proceedingChapter

Neuromuscular Junction Diseases
Congenital Myasthenic Syndromes
2 Citations (Scopus)

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 proceedingChapter

Congenital Myasthenic Syndromes
Plectin
Agrin
Choline O-Acetyltransferase
Neuromuscular Junction

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 proceedingChapter

Congenital Myasthenic Syndromes
Plectin
Congenital Structural Myopathies
Agrin
Laminin Receptors
33 Citations (Scopus)

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 journalArticle

Muscular Diseases
Muscles
Synapses
Enzymes
Alleles
8 Citations (Scopus)

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 journalArticle

Inclusion Body Myositis
Muscles
Fingers
Biopsy
Electromyography
57 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Agrin
Mutation
Neuromuscular Junction
LDL-Receptor Related Proteins
59 Citations (Scopus)

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 journalArticle

SNARE Proteins
Ataxia
Intellectual Disability
Exocytosis
Synaptic Vesicles

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 proceedingChapter

Congenital Myasthenic Syndromes
Agrin
Motor Endplate
Mutation
Choline O-Acetyltransferase
27 Citations (Scopus)

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 journalArticle

Cystinuria
Muscle Weakness
Pyridostigmine Bromide
Congenital Myasthenic Syndromes
Growth Hormone
2013
35 Citations (Scopus)

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 journalArticle

Vacuoles
Muscles
Mutation
Extremities
Intercostal Muscles
21 Citations (Scopus)

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 journalArticle

Heterogeneous-Nuclear Ribonucleoprotein L
RNA Precursors
Exons
Heterogeneous-Nuclear Ribonucleoproteins
RNA-Binding Proteins
16 Citations (Scopus)

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 journalArticle

Congenital Myasthenic Syndromes
Mutation

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 journalArticle

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 proceedingChapter

Filamins
Crystallins
Desmin
Muscular Dystrophies
Cardiomyopathies
55 Citations (Scopus)

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 journalArticle

Muscular Diseases
Ligases
Ubiquitin
Cardiomyopathies
Glycogen Storage Disease