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Pediatric Research|May 1, 1983
Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride dietA M Glasgow, A G Engel, D M Bier, et al.
Neurology|December 25, 2002
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutationX-M Shen, K Ohno, T Fukudome, et al.
The Journal of Clinical Investigation|November 24, 1999
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assemblyP A Quiram, K Ohno, M Milone, et al.
The New England Journal of Medicine|June 1, 1995
Calcium-channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromesV A Lennon, T J Kryzer, G E Griesmann, et al.
Neurology|January 26, 2011
Myasthenic syndrome caused by plectinopathyD Selcen, V C Juel, L D Hobson-Webb, et al.
Annals of Neurology|April 1, 1983
Acute panautonomic neuropathyP A Low, P J Dyck, E H Lambert, et al.
Neurology|November 1, 1990
Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adultR B Bell, A K Brownell, C R Roe, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 15, 2001
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humansK Ohno, A Tsujino, J M Brengman, et al.
Neuron|July 1, 1996
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunitK Ohno, H L Wang, M Milone, et al.
Neurology|February 28, 2002
Three novel COLQ mutations and variation of phenotypic expressivity due to G240XY A Shapira, M E Sadeh, M P Bergtraum, et al.
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