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Select item 46641201.

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

Roger G. Whittaker, David N. Herrmann, Boglarka Bansagi, Bashar Awwad Shiekh Hasan, Robert Muni Lofra, Eric L. Logigian, Janet E. Sowden, Jorge L. Almodovar, J. Troy Littleton, Stephan Zuchner, Rita Horvath, Hanns Lochmüller

Neurology. 2015 Dec 1; 85(22): 1964–1971. doi: 10.1212/WNL.0000000000002185

PMCID:: PMC4664120

Abstract Article PDF–479K

Select item 35413442.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard, Evelyne Goillot, Ruth Herbst, Karen Gaudon, Caroline Huzé, Laurent Schaeffer, Yuji Yamanashi, Osamu Higuchi, Antoine Taly, Jeanine Koenig, Jean-Paul Leroy, Fayçal Hentati, Hossein Najmabadi, Kimia Kahrizi, Manouchehr Ilkhani, Michel Fardeau, Bruno Eymard, Daniel Hantaï

PLoS One. 2013; 8(1): e53826. Published online 2013 Jan 9. doi: 10.1371/journal.pone.0053826

Correction in:: PLoS One. 2013; 8(9): 10.1371/annotation/3ff2b918-c83c-4c6f-a2e2-4d91294ec92f.

PMCID:: PMC3541344

Abstract Article PDF–2.7M

Select item 41151333.

A Single Mutation in the Acetylcholine Receptor δ-Subunit Causes Distinct Effects in Two Types of Neuromuscular Synapses

Jee-Young Park, Meghan Mott, Tory Williams, Hiromi Ikeda, Hua Wen, Michael Linhoff, Fumihito Ono

J Neurosci. 2014 Jul 30; 34(31): 10211–10218. doi: 10.1523/JNEUROSCI.0426-14.2014

PMCID:: PMC4115133

Abstract Article PDF–2.7M

Select item 41571484.

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

David N. Herrmann, Rita Horvath, Janet E. Sowden, Michael Gonzales, Avencia Sanchez-Mejias, Zhuo Guan, Roger G. Whittaker, Jorge L. Almodovar, Maria Lane, Boglarka Bansagi, Angela Pyle, Veronika Boczonadi, Hanns Lochmüller, Helen Griffin, Patrick F. Chinnery, Thomas E. Lloyd, J. Troy Littleton, Stephan Zuchner

Am J Hum Genet. 2014 Sep 4; 95(3): 332–339. doi: 10.1016/j.ajhg.2014.08.007

Correction in:: Am J Hum Genet. 2014 Oct 2; 95(4): 472.

PMCID:: PMC4157148

Abstract Article PDF–1.3M

Select item 42099125.

Congenital Myasthenic Syndromes in 2012

Andrew G. Engel

Curr Neurol Neurosci Rep. Author manuscript; available in PMC 2014 Oct 27.

Published in final edited form as: Curr Neurol Neurosci Rep. 2012 Feb; 12(1): 92–101. doi: 10.1007/s11910-011-0234-7

PMCID:: PMC4209912

Abstract Article PDF–157K

Select item 45202516.

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

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

Lancet Neurol. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Lancet Neurol. 2015 Apr; 14(4): 420–434. doi: 10.1016/S1474-4422(14)70201-7

Correction in:: Lancet Neurol. 2015 May; 14(5): 461.

PMCID:: PMC4520251

Abstract Article PDF–1.2M

Select item 45325617.

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

Duygu Selcen, Bisei Ohkawara, Xin-Ming Shen, Kathleen McEvoy, Kinji Ohno, Andrew G. Engel

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

Published in final edited form as: JAMA Neurol. 2015 Aug 1; 72(8): 889–896. doi: 10.1001/jamaneurol.2015.0853

PMCID:: PMC4532561

Abstract Article PDF–1.6M

Select item 45566668.

A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome

Marie Abitbol, Christophe Hitte, Philippe Bossé, Nicolas Blanchard-Gutton, Anne Thomas, Lionel Martignat, Stéphane Blot, Laurent Tiret

PLoS One. 2015; 10(9): e0137019. Published online 2015 Sep 1. doi: 10.1371/journal.pone.0137019

PMCID:: PMC4556666

Abstract Article PDF–11M

Select item 46361149.

Novel β subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation

Manuel F. Navedo, José A. Lasalde-Dominicci, Carlos A. Báez-Pagán, Luzed Díaz-Pérez, Legier V. Rojas, Ricardo A. Maselli, Julie Staub, Kelly Schott, Roberto Zayas, Christopher M. Gomez

Mol Cell Neurosci. Author manuscript; available in PMC 2015 Nov 6.

Published in final edited form as: Mol Cell Neurosci. 2006 May-Jun; 32(0): 82–90. Published online 2006 Apr 19. doi: 10.1016/j.mcn.2006.02.004

PMCID:: PMC4636114

Abstract Article PDF–2.3M

Select item 339017610.

Acetylcholine Receptor Gating in a Zebrafish Model for Slow-Channel Syndrome

Michael Walogorsky, Rebecca Mongeon, Hua Wen, Gail Mandel, Paul Brehm

J Neurosci. 2012 Jun 6; 32(23): 7941–7948. doi: 10.1523/JNEUROSCI.0158-12.2012

PMCID:: PMC3390176

Abstract Article PDF–1.5M

Select item 467841411.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Clare V. Logan, Judith Cossins, Pedro M. Rodríguez Cruz, David A. Parry, Susan Maxwell, Pilar Martínez-Martínez, Joey Riepsaame, Zakia A. Abdelhamed, Alice V.R. Lake, Maria Moran, Stephanie Robb, Gabriel Chow, Caroline Sewry, Philip M. Hopkins, Eamonn Sheridan, Sandeep Jayawant, Jacqueline Palace, Colin A. Johnson, David Beeson

Am J Hum Genet. 2015 Dec 3; 97(6): 878–885. Published online 2015 Nov 25. doi: 10.1016/j.ajhg.2015.10.017

PMCID:: PMC4678414

Abstract Article PDF–1.3M

Select item 475137512.

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

Xin-Ming Shen, Joan Brengman, David Neubauer, Steven M. Sine, Andrew G. Engel

J Biol Chem. 2016 Feb 12; 291(7): 3291–3301. Published online 2015 Dec 23. doi: 10.1074/jbc.M115.683995

PMCID:: PMC4751375

Abstract Article PDF–1.8M

Select item 479546113.

LG2 Agrin Mutation Causing Severe Congenital Myasthenic Syndrome Mimics Functional Characteristics of Non-neural (z−) Agrin

Ricardo A. Maselli, Jose M. Fernandez, Juan Arredondo, Carmen Navarro, Maian Ngo, David Beeson, Órla Cagney, D. Colette Williams, Robert L. Wollmann, Vladimir Yarov-Yarovoy, Michael J Ferns

Hum Genet. Author manuscript; available in PMC 2016 Mar 17.

Published in final edited form as: Hum Genet. 2012 Jul; 131(7): 1123–1135. Published online 2011 Dec 29. doi: 10.1007/s00439-011-1132-4

PMCID:: PMC4795461

Abstract Article PDF–1.6M

Select item 481316914.

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

Valentina Imperatore, Maria Antonietta Mencarelli, Chiara Fallerini, Laura Bianciardi, Francesca Ariani, Simone Furini, Alessandra Renieri, Francesca Mari, Elisa Frullanti

Int J Mol Sci. 2016 Mar; 17(3): 306. Published online 2016 Feb 27. doi: 10.3390/ijms17030306

PMCID:: PMC4813169

Abstract Article PDF–1.2M

Select item 484127815.

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 501105716.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, Seana O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole

Am J Hum Genet. 2016 Sep 1; 99(3): 753–761. Published online 2016 Aug 25. doi: 10.1016/j.ajhg.2016.06.033

PMCID:: PMC5011057

Abstract Article PDF–1.0M

Select item 1137704617.

Congenital myasthenic syndromes: increasingly complex

Sithara Ramdas, David Beeson, Yin Yao Dong

Curr Opin Neurol. 2024 Oct; 37(5): 493–501. Published online 2024 Jul 25. doi: 10.1097/WCO.0000000000001300

PMCID:: PMC11377046

Abstract Article PDF–1.7M

Select item 538483818.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

Adi Aran, Reeval Segel, Kota Kaneshige, Suleyman Gulsuner, Paul Renbaum, Scott Oliphant, Tomer Meirson, Ariella Weinberg-Shukron, Yair Hershkovitz, Sharon Zeligson, Ming K. Lee, Abraham O. Samson, Stanley M. Parsons, Mary-Claire King, Ephrat Levy-Lahad, Tom Walsh

Neurology. 2017 Mar 14; 88(11): 1021–1028. doi: 10.1212/WNL.0000000000003720

PMCID:: PMC5384838

Abstract Article PDF–670K

Select item 263820619.

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 1791220.

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

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