Congenital Myasthenic Syndromes by J Gordon Millichap

Subjects: “…congenital myasthenic syndromes…”
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Clinical and genetic basis of congenital myasthenic syndromes by Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Valéria Cavalcante Lino, Wladimir Bocca Vieira de Rezende Pinto, Marcelo Annes, Acary Souza Bulle Oliveira

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COLQ-Mutant Congenital Myasthenic Syndromes by J Gordon Millichap

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Congenital myasthenic syndromes (CMS) a rare cause of uncommon fatigue by Jan Lejman, Kinga Panuciak, Emilia Nowicka, Angelika Mastalerczyk, Karolina Makowska, Michał Obel, Kamila Czyżak, Wiktor Wiśniewski

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Diagnosis of Congenital Myasthenic Syndromes by J Gordon Millichap

Subjects: “…congenital myasthenic syndromes…”
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Congenital Myasthenic Syndromes: End-Plate AChR Lack by J Gordon Millichap

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Inheritance of Congenital Myasthenic Syndromes by J Gordon Millichap

Subjects: “…slow-channel congenital myasthenic syndromes…”
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Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea by Zhimei Liu, Li Zhang, Li Zhang, Danmin Shen, Changhong Ding, Xinying Yang, Weihua Zhang, Jiuwei Li, Jie Deng, Shuai Gong, Jun Liu, Suyun Qian, Fang Fang

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The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms by Stefan Nicolau, Margherita Milone

Subjects: “…congenital myasthenic syndromes…”
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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era by Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller

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DOK7 congenital myasthenic syndrome: case series and review of literature by Bentolhoda Ziaadini, Bardyia Ghaderi Yazdi, Elham Dirandeh, Reza Boostani, Narges Karimi, Akram Panahi, Ariana Kariminejad, Mahsa Fadaee, Fatemeh Ahangari, Shahriar Nafissi

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Autoregulation of Acetylcholine Release and Micro-Pharmacodynamic Mechanisms at Neuromuscular Junction: Selective Acetylcholinesterase Inhibitors for Therapy of Myasthenic Syndrome... by Konstantin A. Petrov, Konstantin A. Petrov, Evgeny E. Nikolsky, Patrick Masson

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Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding by Pilar Martínez-Martínez, Marko Phernambucq, Laura Steinbusch, Laurent Schaeffer, Sonia Berrih-Aknin, Hans Duimel, Peter Frederik, Peter Molenaar, Marc H. De Baets, Mario Losen

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Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GF... by Qiushi Chen, Juliane S. Müller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller, Anne Dell

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Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker by Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa

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

Subjects: “…congenital myasthenic syndromes…”
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The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis by Pedro M. Rodríguez Cruz, Pedro M. Rodríguez Cruz, Judith Cossins, Judith Cossins, David Beeson, David Beeson, Angela Vincent, Angela Vincent

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Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases by Javier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli

Subjects: “…Congenital myasthenic syndromes…”
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Evidence-Based Practice in Rehabilitation of Myasthenia Gravis. A Systematic Review of the Literature by Bruno Corrado, Benedetto Giardulli, Massimo Costa

Subjects: “…congenital myasthenic syndromes…”
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Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature by Zeyaur Rahman Azad, Ajith Sivadasan, Mathew Alexander, Anil Kumar B Patil

Subjects: “…Congenital myasthenic syndromes…”
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