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Dominant and Recessive Congenital Myasthenic Syndromes Caused by SYT2 Mutations
Muscle & Nerve
◽
10.1002/mus.27332
◽
2021
◽
Author(s):
Ricardo A. Maselli
◽
David T. Wei
◽
Trent S. Hodgson
◽
Jacinda Sampson
◽
Jessica Vazquez
◽
...
Keyword(s):
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
Download Full-text
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References
Overview and Update of Congenital Myasthenic Syndromes
Neuropediatrics
◽
10.1055/s-0036-1583748
◽
2016
◽
Vol 47
(S 01)
◽
Author(s):
H. Lochmüller
Keyword(s):
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
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Update on inherited neuromuscular transmission disorders (congenital myasthenic syndromes)
10.1055/s-0039-1684994
◽
2019
◽
Author(s):
H Lochmüller
Keyword(s):
Neuromuscular Transmission
◽
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
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Genetic analysis of congenital myasthenic syndromes (CMS)
Neuropediatrics
◽
10.1055/s-2005-867961
◽
2005
◽
Vol 36
(02)
◽
Author(s):
A Abicht
◽
JS Müller
◽
SK Baumeister
◽
U Schara
◽
A Hübner
◽
...
Keyword(s):
Genetic Analysis
◽
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
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Congenital myasthenic syndromes – variability of symptoms, importance of a final diagnosis
Neuropediatrics
◽
10.1055/s-2005-867960
◽
2005
◽
Vol 36
(02)
◽
Author(s):
U Schara
◽
A Abicht
◽
J Mueller
◽
H Lochmueller
Keyword(s):
Final Diagnosis
◽
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
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Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes
Neuromuscular Disorders
◽
10.1016/j.nmd.2019.02.004
◽
2019
◽
Vol 29
(4)
◽
pp. 290-295
Author(s):
Ceren Günbey
◽
Kutay Sel
◽
Çağrı Mesut Temuçin
◽
Hayrettin Hakan Aykan
◽
Bahadır Konuşkan
◽
...
Keyword(s):
Autonomic Function
◽
Adult Patients
◽
Function Evaluation
◽
Cardiac Autonomic Function
◽
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
Download Full-text
P5.16 Pregnancy outcome in congenital myasthenic syndromes
Neuromuscular Disorders
◽
10.1016/j.nmd.2011.06.1045
◽
2011
◽
Vol 21
(9-10)
◽
pp. 728
◽
Cited By ~ 1
Author(s):
H. Bauduin
◽
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E. Fournier
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Keyword(s):
Pregnancy Outcome
◽
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
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Novel congenital myasthenic syndromes associated with defects in quantal release
Neurology
◽
10.1212/01.wnl.0000205596.19540.2c
◽
2006
◽
Vol 66
(8)
◽
pp. 1223-1229
◽
Cited By ~ 10
Author(s):
M. Milone
◽
T. Fukuda
◽
X. M. Shen
◽
A. Tsujino
◽
J. Brengman
◽
...
Keyword(s):
Quantal Release
◽
Congenital Myasthenic Syndromes
◽
Myasthenic Syndromes
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Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients
Human Mutation
◽
10.1002/humu.22130
◽
2012
◽
Vol 33
(10)
◽
pp. 1474-1484
◽
Cited By ~ 61
Author(s):
Angela Abicht
◽
Marina Dusl
◽
Constanze Gallenmüller
◽
Velina Guergueltcheva
◽
Ulrike Schara
◽
...
Keyword(s):
Gene Sequencing
◽
Congenital Myasthenic Syndromes
◽
Diagnostic Practice
◽
Myasthenic Syndromes
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Voluntary partial retraction of: Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes
Neurology
◽
10.1212/01.wnl.0000344248.36823.b5
◽
2009
◽
Vol 72
(3)
◽
pp. 294-294
◽
Cited By ~ 2
Keyword(s):
Recessive Inheritance
◽
Congenital Myasthenic Syndromes
◽
Slow Channel
◽
Myasthenic Syndromes
◽
Variable Penetrance
Download Full-text
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes
Neurology
◽
10.1212/wnl.59.2.162
◽
2002
◽
Vol 59
(2)
◽
pp. 162-168
◽
Cited By ~ 50
Author(s):
R. Croxen
◽
C. Hatton
◽
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◽
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◽
G. Chauplannaz
◽
...
Keyword(s):
Recessive Inheritance
◽
Congenital Myasthenic Syndromes
◽
Slow Channel
◽
Myasthenic Syndromes
◽
Variable Penetrance
Download Full-text
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