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Select item 51253391.

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

Jia-Ze Tan, Yuan Man, Fei Xiao

Chin Med J (Engl) 2016 Nov 5; 129(21): 2596–2602. doi: 10.4103/0366-6999.192780

PMCID:: PMC5125339

Abstract Article PDF–1.3M

Select item 48996722.

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)

Selena Nicholas-Bublick, Boyd M. Koffman

Radiol Case Rep. 2012; 7(3): 678. Published online 2015 Dec 7. doi: 10.2484/rcr.v7i3.678

PMCID:: PMC4899672

Abstract Article PDF–1.8M

Select item 44304423.

Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome

Haipeng Zhu, E. Grajales-Reyes, Vivianette Alicea Vázquez, KaReisha Robinson, Peter Pytel, Carlos A Báez-Pagán, Jose A Lasalde-Dominicci, Christopher M Gomez

Exp Neurol. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: Exp Neurol. 2015 Aug; 270: 88–94. Published online 2014 Oct 23. doi: 10.1016/j.expneurol.2014.10.008

PMCID:: PMC4430442

Abstract Article PDF–2.0M

Select item 33278114.

Intrafamily phenotypic heterogeneity in a large Thai slow-channel-syndrome kinship

Rawiphan Witoonpanich, Teeratorn Pulkes, Charungthai Dejthevaporn, Praphan Yodnopklao, Pirada Witoonpanich, Suppachok Wetchaphanphesat, Joan Brengman, Andrew Engel

Neuromuscul Disord. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Neuromuscul Disord. 2011 Mar; 21(3): 214–218. doi: 10.1016/j.nmd.2010.12.006

PMCID:: PMC3327811

Abstract Article PDF–799K

Select item 65732015.

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit

Margherita Milone, Hai-Long Wang, Kinji Ohno, Takayasu Fukudome, J. Ned Pruitt, Nina Bren, Steven M. Sine, Andrew G. Engel

J Neurosci. 1997 Aug 1; 17(15): 5651–5665. doi: 10.1523/JNEUROSCI.17-15-05651.1997

PMCID:: PMC6573201

Abstract Article PDF–950K

Select item 68011676.

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

Xin‐Ming Shen, Margherita Milone, Hang‐Long Wang, Brenda Banwell, Duygu Selcen, Steven M. Sine, Andrew G. Engel

Ann Clin Transl Neurol. 2019 Oct; 6(10): 2066–2078. Published online 2019 Sep 27. doi: 10.1002/acn3.50902

PMCID:: PMC6801167

Abstract Article PDF–2.1M

Select item 48412787.

Novel Delta Subunit Mutation in Slow-Channel Syndrome Causes Severe Weakness by Novel Mechanisms

Christopher M. Gomez, Ricardo A. Maselli, Bhupinder P. S. Vohra, Manuel Navedo, Joel R. Stiles, Pierre Charnet, Kelly Schott, Legier Rojas, John Keesey, Anthony Verity, Robert W. Wollmann, Jose Lasalde-Dominicci

Ann Neurol. Author manuscript; available in PMC 2016 Apr 22.

Published in final edited form as: Ann Neurol. 2002 Jan; 51(1): 102–112. doi: 10.1002/ana.10077

PMCID:: PMC4841278

Abstract Article PDF–951K

Select item 77347258.

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

Li Di, Hai Chen, Yan Lu, Duygu Selcen, Andrew G. Engel, Yuwei Da, Xin-Ming Shen

Neurology. 2020 Nov 17; 95(20): e2781–e2793. doi: 10.1212/WNL.0000000000010734

PMCID:: PMC7734725

Abstract Article PDF–419K

Select item 79563829.

Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia

Denis Kudryavtsev, Anastasia Isaeva, Daria Barkova, Ekaterina Spirova, Renata Mukhutdinova, Igor Kasheverov, Victor Tsetlin

Molecules. 2021 Mar; 26(5): 1278. Published online 2021 Feb 26. doi: 10.3390/molecules26051278

PMCID:: PMC7956382

Abstract Article PDF–5.0M

Select item 973641110.

Distant Recurrence of a Cerebral Cavernous Malformation in the Vicinity of a Developmental Venous Anomaly: Case Report of Local Oxy-Inflammatory Events

Andrea Bianconi, Luca Francesco Salvati, Andrea Perrelli, Chiara Ferraris, Armando Massara, Massimiliano Minardi, Gelsomina Aruta, Miriam Rosso, Barbara Massa Micon, Diego Garbossa, Saverio Francesco Retta

Int J Mol Sci. 2022 Dec; 23(23): 14643. Published online 2022 Nov 24. doi: 10.3390/ijms232314643

PMCID:: PMC9736411

Abstract Article PDF–1.7M

Select item 263820611.

Decremental Response to High-Frequency Trains of Acetylcholine Pulses but Unaltered Fractional Ca²⁺ Currents in a Panel of “Slow-Channel Syndrome” Nicotinic Receptor Mutants

Sergio Elenes, Michael Decker, Gisela D. Cymes, Claudio Grosman

J Gen Physiol. 2009 Feb; 133(2): 151–169. doi: 10.1085/jgp.200810089

PMCID:: PMC2638206

Abstract Article PDF–5.2M

Select item 1047356712.

Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations

Jian Ren, Yazi Huang, Yeqing Ren, Tianqi Tu, Baoshan Qiu, Daosheng Ai, Zhanying Bi, Xue Bai, Fengzhi Li, Jun-Liszt Li, Xing-jun Chen, Ziyan Feng, Zongpei Guo, Jianfeng Lei, An Tian, Ziwei Cui, Volkhard Lindner, Ralf H Adams, Yibo Wang, Fei Zhao, Jakob Körbelin, Wenzhi Sun, Yilong Wang, Hongqi Zhang, Tao Hong, Woo-ping Ge

Brain. 2023 Sep; 146(9): 3634–3647. Published online 2023 Mar 30. doi: 10.1093/brain/awad104

PMCID:: PMC10473567

Abstract Article PDF–1.5M

Select item 221703813.

Mutation in the M1 Domain of the Acetylcholine Receptor α Subunit Decreases the Rate of Agonist Dissociation

Hai-Long Wang, Anthony Auerbach, Nina Bren, Kinji Ohno, Andrew G. Engel, Steven M. Sine

J Gen Physiol. 1997 Jun 1; 109(6): 757–766. doi: 10.1085/jgp.109.6.757

Correction in:: J Gen Physiol. 1997 Aug 1; 110(2): 215.

PMCID:: PMC2217038

Abstract Article PDF–304K

Select item 177969414.

The human adult subtype ACh receptor channel has high Ca²⁺ permeability and predisposes to endplate Ca²⁺ overloading

Sergio Fucile, Antonietta Sucapane, Francesca Grassi, Fabrizio Eusebi, Andrew G Engel

J Physiol. 2006 May 15; 573(Pt 1): 35–43. Published online 2006 Mar 9. doi: 10.1113/jphysiol.2006.108092

PMCID:: PMC1779694

Abstract Article PDF–486K

Select item 1791215.

Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes

Ming Zhou, Andrew G. Engel, Anthony Auerbach

Proc Natl Acad Sci U S A. 1999 Aug 31; 96(18): 10466–10471. doi: 10.1073/pnas.96.18.10466

PMCID:: PMC17912

Abstract Article PDF–125K

Select item 273719616.

Selective DNAzyme-mediated cleavage of AChR mutant transcripts by targeting the mutation site or through mismatches in the binding arm

Amr Abdelgany, John Ealing, Matthew Wood, David Beeson

J RNAi Gene Silencing. 2005 Aug; 1(1): 32–37. Published online 2005 Jul 28.

PMCID:: PMC2737196

Abstract Article PDF–778K

Select item 385994617.

Superselective intra-arterial cisplatin infusion and concomitant radiotherapy for maxillary sinus cancer

A Homma, T Sakashita, D Yoshida, R Onimaru, K Tsuchiya, F Suzuki, K Yasuda, H Hatakeyama, J Furusawa, T Mizumachi, S Kano, N Inamura, S Taki, H Shirato, S Fukuda

Br J Cancer. 2013 Dec 10; 109(12): 2980–2986. Published online 2013 Nov 5. doi: 10.1038/bjc.2013.663