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Brain, ISSN 0006-8950, 2014, Volume 137, Issue 9, pp. 2429 - 2443
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2012, Volume 259, Issue 5, pp. 838 - 850
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2240 - 2245
Journal Article
Journal Article
Journal Article
BMJ case reports, ISSN 1757-790X, 11/2018, Volume 2018, p. bcr-2018-226534
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2001, Volume 98, Issue 4, pp. 2017 - 2022
Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.... 
Biological Sciences | LOCALIZATION | MUTAGENESIS | FAMILIAL INFANTILE MYASTHENIA | RAT | MULTIDISCIPLINARY SCIENCES | AXONAL-TRANSPORT | GENE LOCUS | IDENTIFICATION | TRANSLATION | EXPRESSION | ACETYLCHOLINE-RECEPTOR | Caenorhabditis elegans | Neuromuscular diseases | Gene mutations | Drosophila | Physiological aspects | Acetylcholine | Genetic aspects | Research
Journal Article
Masui. The Japanese journal of anesthesiology, ISSN 0021-4892, 08/2014, Volume 63, Issue 8, p. 911
Congenital myasthenic syndromes (CMS) are heterogeneous disorders of neurotransmission caused by genetic mutations of neuromuscular junction molecules. We... 
Perioperative Care | Stomach | Anesthesia, General | Intestines | Myasthenic Syndromes, Congenital - complications | Humans | Positive-Pressure Respiration - adverse effects | Male | Air | Respiration, Artificial | Scoliosis - surgery | Lung Compliance - physiology | Scoliosis - complications | Piperidines | Adolescent | Propofol | Postoperative Complications
Journal Article
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo, 01/2013, Volume 31, Issue 1, p. 121
To alert pediatricians about the importance of a careful investigation on recurrent apparent life-threatening events. Reports of the association of these... 
Recurrence | Myasthenic Syndromes, Congenital - complications | Myasthenic Syndromes, Congenital - diagnosis | Humans | Infantile Apparent Life-Threatening Event - etiology | Female | Infant
Journal Article
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