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Auteur Engel AG

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Pediatric neurology, 157, Epub. 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

Natera-de Benito D ; Pugliese A ; Polavarapu K ; Guergueltcheva V ; Tournev I ; Todorova A ; Afonso Ribeiro J ; Fernández-Mayoralas DM ; Ortez C ; Martorell L ; Estevez-Arias B ; Matalonga L ; Laurie S ; Jou C ; Lau J ; Thompson R ; Shen X ; Engel AG ; Nascimento A ; Lochmuller H ; Selcen D | 09/05/2024

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International Journal of molecular sciences, 24, 4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

Ohno K ; Ohkawara B ; Shen XM ; Selcen D ; Engel AG | Switzerland | 02/2023

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Neurology Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation

Shelly S ; Shelly S ; Talha N ; Pereira NL ; Engel AG ; Johnson JN ; Selcen D | United States | 27/07/2021

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JCI insight, 5, 7. Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner

Ohkawara B ; Shen X ; Selcen D ; Nazim M ; Bril V ; Tarnopolsky MA ; Brady L ; Fukami S ; Amato AA ; Yis U ; Ohno K ; Engel AG | United States | 04/2020

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Neuromuscular disorders : NMD, 29, 8. A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

Nicolau S ; Liewluck T ; Shen XM ; Selcen D ; Engel AG ; Milone M | England | 08/2019

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Current neurology and neuroscience reports, 18, 8. Congenital Myasthenic Syndromes in 2018

Engel AG, Auteur | 12/06/2018

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Article

Annals of the New York Academy of Sciences, 1413, 1. The unfolding landscape of the congenital myasthenic syndromes

Engel AG, Auteur ; Shen XM ; Selcen D | 2018

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Current neurology and neuroscience reports, 18, 8. Congenital Myasthenic Syndromes in 2018

Engel AG, Auteur ; Engel AG | 2018

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Article

Handbook of clinical neurology, 148. Genetic basis and phenotypic features of congenital myasthenic syndromes

Engel AG, Auteur | 2018

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Handbook of clinical neurology, 148. Genetic basis and phenotypic features of congenital myasthenic syndromes

Engel AG | 2018

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Neurology, 91, 19. Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

Kao JC, Auteur ; Kao JC ; Milone M ; Selcen D ; Shen XM ; Engel AG ; Liewluck T | 2018

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Neuromuscular disorders : NMD Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up

Durmus H, Auteur ; Shen XM ; Serdaroglu-Oflazer P ; Kara B ; Parman-Gulsen Y ; Ozdemir C ; Brengman J ; Deymeer F ; Engel AG | 28/11/2017

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Annals of clinical and translational neurology, 4, 2. Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

Shen XM, Auteur ; Scola RH ; Lorenzoni PJ ; Kay CS ; Werneck LC ; Brengman J ; Selcen D ; Engel AG | 2017

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Neurology, 88, 12. Congenital myopathy associated with the triadin knockout syndrome

Engel AG, Auteur ; Redhage KR ; Tester DJ ; Ackerman MJ ; Selcen D | 2017

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Neuromuscular disorders : NMD, 27, 2. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Aharoni S, Auteur ; 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 AG ; Nevo Y | 2017

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Neurology, 87, 14. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

O'Grady GL, Auteur ; Verschuuren C ; Yuen M ; Webster R ; Menezes M ; Fock JM ; Pride N ; Best HA ; Benavides Damm T ; Turner C ; Lek M ; Engel AG ; North KN ; Clarke NF ; Macarthur DG ; Kamsteeg EJ ; Cooper ST | 2016

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Article

Muscle & Nerve, 51, 5. Electromyographic findings in 37 patients with adult-onset acid maltase deficiency

Kassardjian CD ; Engel AG ; Sorenson EJ | 2015

Comment in: Electrical myotonia in acid maltase deficiency disease. [Muscle Nerve. 2015] Reply. [Muscle Nerve. 2015]

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Article

The Lancet. Neurology, 14, 4. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Engel AG, Auteur ; Shen XM ; Selcen D ; Sine SM | 2015

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Article

Annals of neurology, 76, 6. A new muscle glycogen storage disease associated with Glycogenin-1 deficiency

Malfatti E ; Nilsson J ; Hedberg-Oldfors C ; Lain AH ; Michel F ; Dominguez Gonzalez C ; Viennet G ; Ackman HO ; Kornblum C ; van den Bergh P ; Romero NB ; Engel AG ; DiMauro S ; Oldfors A | 2014

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Article

Neurology, 82, 14. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

Régal L ; Shen XM ; Selcen D ; Verhille C ; Meulemans S ; Creemers JW ; Engel AG | 2014

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Neurology, 82, 20. DPAGT1 myasthenia and myopathy : Genetic, phenotypic, and expression studies

Selcen D ; Shen XM ; Brengman J ; Li Y ; Stans AA ; Wieben E ; Engel AG | 2014

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Article

Annals of neurology, 74, 6. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Nilsson J ; Schoser B ; Laforet P ; Kalev O ; Lindberg C ; Romero NB ; Lopez MD ; Akman HO ; Wahbi K ; Iglseder S ; Eggers C ; Engel AG ; DiMauro S ; Oldfors A | 2013

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Article

Chemico-biological interactions, 203, 1. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis

Ohno K ; Ito M ; Kawakami Y ; Krejci E ; Engel AG | 2013

Accès au résumé PubMed / to PubMed abstract

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Journal of physiology (The), 591, 10. Why does acetylcholine exacerbate myasthenia caused by anti-MuSK antibodies ?

Engel AG | 2013

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Neurology, 81, 4. GFPT1-myasthenia. Clinical, structural, and electrophysiologic heterogeneity

Selcen D ; Shen XM ; Milone M ; Brengman J ; Ohno K ; Deymeer F ; Finkel R ; Rowin J ; Engel AG | 2013

Accès au résumé Pubmed/to pubmed abstract

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Auteur Engel AG

Documents disponibles écrits par cet auteur (136)

Pediatric neurology, 157, Epub. 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

International Journal of molecular sciences, 24, 4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

Neurology Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation

JCI insight, 5, 7. Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner

Neuromuscular disorders : NMD, 29, 8. A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

Current neurology and neuroscience reports, 18, 8. Congenital Myasthenic Syndromes in 2018

Annals of the New York Academy of Sciences, 1413, 1. The unfolding landscape of the congenital myasthenic syndromes

Current neurology and neuroscience reports, 18, 8. Congenital Myasthenic Syndromes in 2018

Handbook of clinical neurology, 148. Genetic basis and phenotypic features of congenital myasthenic syndromes

Handbook of clinical neurology, 148. Genetic basis and phenotypic features of congenital myasthenic syndromes

Neurology, 91, 19. Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

Neuromuscular disorders : NMD Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up

Annals of clinical and translational neurology, 4, 2. Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

Neurology, 88, 12. Congenital myopathy associated with the triadin knockout syndrome

Neuromuscular disorders : NMD, 27, 2. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Neurology, 87, 14. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

Muscle & Nerve, 51, 5. Electromyographic findings in 37 patients with adult-onset acid maltase deficiency

The Lancet. Neurology, 14, 4. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Annals of neurology, 76, 6. A new muscle glycogen storage disease associated with Glycogenin-1 deficiency

Neurology, 82, 14. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

Neurology, 82, 20. DPAGT1 myasthenia and myopathy : Genetic, phenotypic, and expression studies

Annals of neurology, 74, 6. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Chemico-biological interactions, 203, 1. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis

Journal of physiology (The), 591, 10. Why does acetylcholine exacerbate myasthenia caused by anti-MuSK antibodies ?

Neurology, 81, 4. GFPT1-myasthenia. Clinical, structural, and electrophysiologic heterogeneity