BENEFICIAL EFFECT OF ALBUTEROL IN CONGENTIAL MYASTHENIC SYNDROME WITH EPSILON SUBUINT MUTATIONS

per Sadeh, Menachem, Shen, Xin-Ming, Engel, Andrew G.
Publicat 2011

The unfolding landscape of the congenital myasthenic syndromes

per Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu
Publicat a Ann N Y Acad Sci (2018)

Endplate Structure and Parameters of Neuromuscular Transmission in Sporadic Centronuclear Myopathy Associated with Myasthenia

per Liewluck, Teerin, Shen, Xin-Ming, Milone, Margherita, Engel, Andrew G.
Publicat 2011

New horizons for congenital myasthenic syndromes

per Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Sine, Steven
Publicat 2012

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

per Shen, Xin-Ming, Selcen, Duygu, Brengman, Joan, Engel, Andrew G.
Publicat a Neurology (2014)

What Have We Learned from the Congenital Myasthenic Syndromes

per Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Sine, Steven M.
Publicat 2009

Further Observations in Congenital Myasthenic Syndromes

per Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Sine, Steven M.
Publicat 2008

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

per Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Sine, Steven M.
Publicat a Lancet Neurol (2015)

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

per Shen, Xin-Ming, Brengman, Joan M., Sine, Steven M., Engel, Andrew G.
Publicat 2012

Congenital myasthenia–related AChR δ subunit mutation interferes with intersubunit communication essential for channel gating

per Shen, Xin-Ming, Fukuda, Taku, Ohno, Kinji, Sine, Steven M., Engel, Andrew G.
Publicat 2008

Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates

per Shen, Xin-Ming, Brengman, Joan, Neubauer, David, Sine, Steven M., Engel, Andrew G.
Publicat a J Biol Chem (2016)

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

per Engel, Andrew G., Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Harper, C. Michel
Publicat a Neurol Genet (2016)

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

per Masuda, Akio, Shen, Xin-Ming, Ito, Mikako, Matsuura, Tohru, Engel, Andrew G., Ohno, Kinji
Publicat 2008

Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site

per Shen, Xin-Ming, Brengman, Joan M., Edvardson, Simon, Sine, Steve M., Engel, Andrew G.
Publicat 2012

A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

per Nicolau, Stefan, Liewluck, Teerin, Shen, Xin-Ming, Selcen, Duygu, Engel, Andrew G., Milone, Margherita
Publicat a Neuromuscul Disord (2019)

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4 Myasthenia

per Selcen, Duygu, Ohkawara, Bisei, Shen, Xin-Ming, McEvoy, Kathleen, Ohno, Kinji, Engel, Andrew G.
Publicat a JAMA Neurol (2015)

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

per Kao, Justin C., Milone, Margherita, Selcen, Duygu, Shen, Xin-Ming, Engel, Andrew G., Liewluck, Teerin
Publicat a Neurology (2018)

Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia

per Di, Li, Chen, Hai, Lu, Yan, Selcen, Duygu, Engel, Andrew G., Da, Yuwei, Shen, Xin-Ming
Publicat a Neurology (2020)

DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies

per Selcen, Duygu, Shen, Xin-Ming, Brengman, Joan, Li, Ying, Stans, Anthony A., Wieben, Eric, Engel, Andrew G.
Publicat 2014

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating

per Shen, Xin-Ming, Ohno, Kinji, Tsujino, Akira, Brengman, Joan M., Gingold, Monique, Sine, Steven M., Engel, Andrew G.
Publicat 2003