Publications by authors named "Andrew G Engel"

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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Daniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, Velina Guergueltcheva, Ivailo Tournev, Andrew G Engel

Pediatr Neurol· August 2024

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Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.
Xin-Ming Shen, Tomohiko Nakata, Seiji Mizuno, Issei Imoto, Duygu Selcen, Andrew G Engel

Ann Clin Transl Neurol· May 2023

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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Kinji Ohno, Bisei Ohkawara, Xin-Ming Shen, Duygu Selcen, Andrew G Engel

Int J Mol Sci· February 2023

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Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.
Charungthai Dejthevaporn, Suppachok Wetchaphanphesat, Teeratorn Pulkes, Sasivimol Rattanasiri, Andrew G Engel

J Clin Neurosci· February 2022

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Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shahar Shelly, Niaz Talha, Naveen L Pereira, Andrew G Engel, Jonathan N Johnson

Neurology· September 2021

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Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia.
Li Di, Hai Chen, Yan Lu, Duygu Selcen, Andrew G Engel

Neurology· November 2020

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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.
Xin-Ming Shen, Li Di, Shelley Shen, Yuying Zhao, Ann M Neumeyer, Andrew G Engel

Exp Neurol· September 2020

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Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
Bisei Ohkawara, XinMing Shen, Duygu Selcen, Mohammad Nazim, Vera Bril, Andrew G Engel

JCI Insight· April 2020

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A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy.
Stefan Nicolau, Teerin Liewluck, Jeffrey L Elliott, Andrew G Engel, Margherita Milone

Neuromuscul Disord· March 2020

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Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.
Xin-Ming Shen, Margherita Milone, Hang-Long Wang, Brenda Banwell, Duygu Selcen, Andrew G Engel

Ann Clin Transl Neurol· October 2019

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A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Stefan Nicolau, Teerin Liewluck, Xin-Ming Shen, Duygu Selcen, Andrew G Engel

Neuromuscul Disord· August 2019

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Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity.
Ivan O Espinoza, Carolina Reynoso, Giulliana Chávez, Andrew G Engel

Medwave· June 2019

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Correction to: The Therapy of Congenital Myasthenic Syndromes.
Andrew G Engel

Neurotherapeutics· January 2019

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Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.
Justin C Kao, Margherita Milone, Duygu Selcen, Xin-Ming Shen, Andrew G Engel

Neurology· November 2018

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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.
Rachel Thompson, Angela Abicht, David Beeson, Andrew G Engel, Bruno Eymard

Orphanet J Rare Dis· November 2018

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Corrigendum to "Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up" [Neuromuscular Disorders 28/4 (2018) 315-322].
Hacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, Bulent Kara, Yesim Parman-Gulsen, Andrew G Engel

Neuromuscul Disord· October 2018

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Genetic basis and phenotypic features of congenital myasthenic syndromes.
Andrew G Engel

Handb Clin Neurol· August 2018

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Congenital Myasthenic Syndromes in 2018.
Andrew G Engel

Curr Neurol Neurosci Rep· June 2018

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Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Hacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, Bulent Kara, Yesim Parman-Gulsen, Andrew G Engel

Neuromuscul Disord· April 2018

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Myopathy With and Variants: Clinical and Pathological Features.
Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E Hamilton, Elie Naddaf, Andrew G Engel

Front Neurol· March 2018

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The unfolding landscape of the congenital myasthenic syndromes.
Andrew G Engel, Xin-Ming Shen, Duygu Selcen

Ann N Y Acad Sci· February 2018

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Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.
Xin-Ming Shen, Joan M Brengman, Shelley Shen, Hacer Durmus, Veeramani Preethish-Kumar, Andrew G Engel

JCI Insight· January 2018

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Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
Uluç Yiş, Kerstin Becker, Semra Hız Kurul, Gökhan Uyanik, Erhan Bayram, Andrew G Engel

J Child Neurol· July 2017

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Congenital myopathy associated with the triadin knockout syndrome.
Andrew G Engel, Keeley R Redhage, David J Tester, Michael J Ackerman, Duygu Selcen

Neurology· March 2017

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Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.
Xin-Ming Shen, Rosana H Scola, Paulo J Lorenzoni, Cláudia S K Kay, Lineu C Werneck, Andrew G Engel

Ann Clin Transl Neurol· February 2017

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