-
1
-
-
0017474455
-
A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release
-
A.G. Engel, E.H. Lambert, and M.R. Gomez A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release Ann Neurol 1 1977 315 330
-
(1977)
Ann Neurol
, vol.1
, pp. 315-330
-
-
Engel, A.G.1
Lambert, E.H.2
Gomez, M.R.3
-
2
-
-
0032483003
-
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
-
K. Ohno, J.M. Brengman, A. Tsujino, and A.G. Engel Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme Proc Natl Acad Sci USA 95 1998 9654 9659
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 9654-9659
-
-
Ohno, K.1
Brengman, J.M.2
Tsujino, A.3
Engel, A.G.4
-
3
-
-
0032231665
-
Mutation in the human acetylcholinesterase-associated gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency
-
C. Donger, E. Krejci, and A.P. Serradell Mutation in the human acetylcholinesterase-associated gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency Am J Hum Genet 63 1998 967 975
-
(1998)
Am J Hum Genet
, vol.63
, pp. 967-975
-
-
Donger, C.1
Krejci, E.2
Serradell, A.P.3
-
4
-
-
17344391484
-
The spectrum of mutations causing endplate acetylcholinesterase deficiency
-
K. Ohno, A.G. Engel, and J.M. Brengman The spectrum of mutations causing endplate acetylcholinesterase deficiency Ann Neurol 47 2000 162 170
-
(2000)
Ann Neurol
, vol.47
, pp. 162-170
-
-
Ohno, K.1
Engel, A.G.2
Brengman, J.M.3
-
5
-
-
32544456772
-
Characterization and prediction of alternative splice sites
-
M. Wang, and A. Marin Characterization and prediction of alternative splice sites Gene 366 2006 219 227
-
(2006)
Gene
, vol.366
, pp. 219-227
-
-
Wang, M.1
Marin, A.2
-
6
-
-
0034641222
-
Myasthenia gravis: Recommendations for clinical research standards. Task Force of the Medical Scientific Advisory Board of the Myasthenia Gravis Foundation of America
-
A. Jaretzki, R.J. Barohn, and R.M. Ernstoff Myasthenia gravis: Recommendations for clinical research standards. Task Force of the Medical Scientific Advisory Board of the Myasthenia Gravis Foundation of America Neurology 55 2000 16 23
-
(2000)
Neurology
, vol.55
, pp. 16-23
-
-
Jaretzki, A.1
Barohn, R.J.2
Ernstoff, R.M.3
-
7
-
-
39749165133
-
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
-
V. Mihaylova, J.S. Muller, and J.J. Vilchez Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes Brain 131 2008 747 759
-
(2008)
Brain
, vol.131
, pp. 747-759
-
-
Mihaylova, V.1
Muller, J.S.2
Vilchez, J.J.3
-
8
-
-
0037176796
-
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
-
Y.A. Shapira, M.E. Sadeh, and M.P. Bergtraum Three novel COLQ mutations and variation of phenotypic expressivity due to G240X Neurology 58 2002 603 609
-
(2002)
Neurology
, vol.58
, pp. 603-609
-
-
Shapira, Y.A.1
Sadeh, M.E.2
Bergtraum, M.P.3
-
9
-
-
0037374620
-
Two novel mutations in the COLQ gene causing endplate acetylcholinesterase deficiency
-
K. Ishigaki, D. Nicolle, and E. Krejci Two novel mutations in the COLQ gene causing endplate acetylcholinesterase deficiency Neuromuscul Disord 13 2003 236 244
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 236-244
-
-
Ishigaki, K.1
Nicolle, D.2
Krejci, E.3
-
10
-
-
3242721402
-
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene
-
J.S. Müller, S. Petrova, and R. Kiefer Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene Neuropediatrics 35 2004 183 189
-
(2004)
Neuropediatrics
, vol.35
, pp. 183-189
-
-
Müller, J.S.1
Petrova, S.2
Kiefer, R.3
-
11
-
-
33947147849
-
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives
-
F. Schreiner, M. Hoppenz, R. Klaeren, J. Reimann, and J. Woelfle Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives Neuromuscul Disord 17 2007 262 265
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 262-265
-
-
Schreiner, F.1
Hoppenz, M.2
Klaeren, R.3
Reimann, J.4
Woelfle, J.5
-
13
-
-
77952144985
-
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
-
D. Lashley, J. Palace, S. Jayawant, S. Robb, and D. Beeson Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7 Neurology 74 2010 1517 1523
-
(2010)
Neurology
, vol.74
, pp. 1517-1523
-
-
Lashley, D.1
Palace, J.2
Jayawant, S.3
Robb, S.4
Beeson, D.5
-
14
-
-
80054848752
-
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and DOK-7 myasthenia
-
T. Liewluck, D. Selcen, and A.G. Engel Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and DOK-7 myasthenia Muscle Nerve 44 2011 789 794
-
(2011)
Muscle Nerve
, vol.44
, pp. 789-794
-
-
Liewluck, T.1
Selcen, D.2
Engel, A.G.3
-
15
-
-
80052592990
-
Beneficial effect of albuterol in congenital myasthenic syndrome with ε subunit mutations
-
M. Sadeh, X.-M. Shen, and A.G. Engel Beneficial effect of albuterol in congenital myasthenic syndrome with ε subunit mutations Muscle Nerve 44 2011 289 291
-
(2011)
Muscle Nerve
, vol.44
, pp. 289-291
-
-
Sadeh, M.1
Shen, X.-M.2
Engel, A.G.3
|