isoleucine and Congenital Myasthenia

isoleucine has been researched along with Congenital Myasthenia in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (50.00)	29.6817
2010's	1 (50.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Chevessier, F; Girard, E; Krejci, E; McArdle, JJ; Mersdorf, U; Peter, C; Witzemann, V	1
Abicht, A; Bufler, J; Huebner, A; Krampfl, K; Lochmüller, H; Mildner, G; Mortier, W; Petrova, S; Schara, U; Schmidt, C; Stucka, R; Voss, W	1

Other Studies

2 other study(ies) available for isoleucine and Congenital Myasthenia

Article	Year
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation. Neurobiology of disease, 2012, Volume: 45, Issue:3 Topics: Acetylcholinesterase; Aminophenols; Animals; Biophysics; Diaphragm; Disease Models, Animal; Gene Expression Regulation; Genetic Predisposition to Disease; Hand Strength; Humans; In Vitro Techniques; Isoleucine; Mice; Mice, Transgenic; Microscopy, Electron, Transmission; Miniature Postsynaptic Potentials; Motor Endplate; Mutagenesis; Myasthenic Syndromes, Congenital; Neurofilament Proteins; Neuromuscular Junction; Patch-Clamp Techniques; Phenylalanine; Receptors, Nicotinic; S100 Proteins; Synaptophysin; Time Factors	2012
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscular disorders : NMD, 2003, Volume: 13, Issue:3 Topics: Adolescent; Apnea; Child; Choline O-Acetyltransferase; DNA Mutational Analysis; Female; Genetic Linkage; Haplotypes; Homozygote; Humans; Isoleucine; Lod Score; Mutation, Missense; Myasthenic Syndromes, Congenital; Pedigree; Restriction Mapping; Sequence Alignment; Threonine	2003

Article

Year

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.

Neurobiology of disease, 2012, Volume: 45, Issue:3

Topics: Acetylcholinesterase; Aminophenols; Animals; Biophysics; Diaphragm; Disease Models, Animal; Gene Expression Regulation; Genetic Predisposition to Disease; Hand Strength; Humans; In Vitro Techniques; Isoleucine; Mice; Mice, Transgenic; Microscopy, Electron, Transmission; Miniature Postsynaptic Potentials; Motor Endplate; Mutagenesis; Myasthenic Syndromes, Congenital; Neurofilament Proteins; Neuromuscular Junction; Patch-Clamp Techniques; Phenylalanine; Receptors, Nicotinic; S100 Proteins; Synaptophysin; Time Factors

2012

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Neuromuscular disorders : NMD, 2003, Volume: 13, Issue:3

Topics: Adolescent; Apnea; Child; Choline O-Acetyltransferase; DNA Mutational Analysis; Female; Genetic Linkage; Haplotypes; Homozygote; Humans; Isoleucine; Lod Score; Mutation, Missense; Myasthenic Syndromes, Congenital; Pedigree; Restriction Mapping; Sequence Alignment; Threonine

2003