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Andrew G Engel

Showing results (121-130 of 129) with videos related to

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Frontiers in Neurology|March 31, 2018
Myopathy With <i>SQSTM1</i> and <i>TIA1</i> Variants: Clinical and Pathological FeaturesZhiyv Niu, Carly Sabine Pontifex, Sarah Berini, et al.
Human Mutation|July 26, 2011
Functional consequences and structural interpretation of mutations of human choline acetyltransferaseXin-Ming Shen, Thomas O Crawford, Joan Brengman, et al.
Annals of Neurology|June 27, 2013
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Johanna Nilsson, Benedikt Schoser, Pascal Laforet, et al.
Annals of Neurology|October 3, 2014
A new muscle glycogen storage disease associated with glycogenin-1 deficiencyEdoardo Malfatti, Johanna Nilsson, Carola Hedberg-Oldfors, et al.
Journal of Child Neurology|May 4, 2017
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical InsightsUluç Yiş, Kerstin Becker, Semra Hız Kurul, et al.
Neuromuscular Disorders : NMD|December 28, 2016
Congenital myasthenic syndrome in Israel: Genetic and clinical characterizationSharon Aharoni, Menachem Sadeh, Yehuda Shapira, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Pediatric Neurology|June 4, 2024
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 CasesDaniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, et al.
Muscle & Nerve|December 15, 2015
Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridineTed M Burns, Gordon A Smith, Jeffrey A Allen, et al.
Pageof 13

Showing results (121-130 of 129) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 129 results.
Frontiers in Neurology|March 31, 2018
Myopathy With <i>SQSTM1</i> and <i>TIA1</i> Variants: Clinical and Pathological FeaturesZhiyv Niu, Carly Sabine Pontifex, Sarah Berini, et al.
Human Mutation|July 26, 2011
Functional consequences and structural interpretation of mutations of human choline acetyltransferaseXin-Ming Shen, Thomas O Crawford, Joan Brengman, et al.
Annals of Neurology|June 27, 2013
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Johanna Nilsson, Benedikt Schoser, Pascal Laforet, et al.
Annals of Neurology|October 3, 2014
A new muscle glycogen storage disease associated with glycogenin-1 deficiencyEdoardo Malfatti, Johanna Nilsson, Carola Hedberg-Oldfors, et al.
Journal of Child Neurology|May 4, 2017
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical InsightsUluç Yiş, Kerstin Becker, Semra Hız Kurul, et al.
Neuromuscular Disorders : NMD|December 28, 2016
Congenital myasthenic syndrome in Israel: Genetic and clinical characterizationSharon Aharoni, Menachem Sadeh, Yehuda Shapira, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Pediatric Neurology|June 4, 2024
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 CasesDaniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, et al.
Muscle & Nerve|December 15, 2015
Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridineTed M Burns, Gordon A Smith, Jeffrey A Allen, et al.
Pageof 13