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Items: 1 to 20 of 76

1.
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop
Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H. Beggs, Haluk Topaloglu
J Clin Neuromuscul Dis. Author manuscript; available in PMC 2017 May 18.
Published in final edited form as: J Clin Neuromuscul Dis. 2017 Mar; 18(3): 147–151. doi: 10.1097/CND.0000000000000132
PMCID:
PMC5436270
AbstractArticlePDF–165K
2.
The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses
Tohru Tezuka, Akane Inoue, Taisuke Hoshi, Scott D. Weatherbee, Robert W. Burgess, Ryo Ueta, Yuji Yamanashi
Proc Natl Acad Sci U S A. 2014 Nov 18; 111(46): 16556–16561. Published online 2014 Nov 3. doi: 10.1073/pnas.1408409111
PMCID:
PMC4246289
AbstractArticlePDF–1.2M
3.
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
AbstractArticlePDF–1.6M
4.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E. Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson
Brain. 2015 Sep; 138(9): 2493–2504. Published online 2015 Jul 1. doi: 10.1093/brain/awv185
PMCID:
PMC4547052
AbstractArticlePDF–788K
5.
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
AbstractArticlePDF–1.8M
6.
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
AbstractArticlePDF–1.6M
7.
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
AbstractArticlePDF–951K
8.
A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle
Jørgen S. Agerholm, Fintan J. McEvoy, Fiona Menzi, Vidhya Jagannathan, Cord Drögemüller
BMC Genomics. 2016; 17: 479. Published online 2016 Jun 30. doi: 10.1186/s12864-016-2832-x
PMCID:
PMC4929742
AbstractArticlePDF–1.6M
9.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Hussein Daoud, Stephanie M. Luco, Rui Li, Eric Bareke, Chandree Beaulieu, Olga Jarinova, Nancy Carson, Sarah M. Nikkel, Gail E. Graham, Julie Richer, Christine Armour, Dennis E. Bulman, Pranesh Chakraborty, Michael Geraghty, Matthew A. Lines, Thierry Lacaze-Masmonteil, Jacek Majewski, Kym M. Boycott, David A. Dyment
CMAJ. 2016 Aug 9; 188(11): E254–E260. doi: 10.1503/cmaj.150823
PMCID:
PMC4978597
AbstractArticlePDF–92K
10.
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G. Engel, Yoram Nevo
Neuromuscul Disord. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Neuromuscul Disord. 2017 Feb; 27(2): 136–140. Published online 2016 Nov 24. doi: 10.1016/j.nmd.2016.11.014
PMCID:
PMC5280189
AbstractArticlePDF–95K
11.
A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome
Caitlin J. Rinz, Jonathan Levine, Katie M. Minor, Hammon D. Humphries, Renee Lara, Alison N. Starr-Moss, Ling T. Guo, D. Colette Williams, G. Diane Shelton, Leigh Anne Clark
PLoS One. 2014; 9(8): e106425. Published online 2014 Aug 28. doi: 10.1371/journal.pone.0106425
PMCID:
PMC4148433
AbstractArticlePDF–6.5M
12.
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission
Ricardo A. Maselli, Juan Arredondo, Jessica Vázquez, Jessica X. Chong, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Marian Lara, Fiona Ng, Victoria L. Lo, Peter Pytel, Craig M. McDonald
Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Am J Med Genet A. 2017 Aug; 173(8): 2240–2245. Published online 2017 May 25. doi: 10.1002/ajmg.a.38291
PMCID:
PMC5541137
AbstractArticlePDF–479K
13.
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle
Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang
Chin Med J (Engl) 2017 Oct 5; 130(19): 2279–2282. doi: 10.4103/0366-6999.215332
PMCID:
PMC5634075
AbstractArticlePDF–1.1M
14.
Genetic Landscape of congenital myasthenic syndromes from Turkey: Novel mutations and clinical insights
Uluç Yiş, Kerstin Becker, Semra Hız Kurul, Gökhan Uyanik, Erhan Bayram, Göknur Haliloğlu, Ayşe İpek Polat, Müge Ayanoğlu, Derya Okur, Ayşe Fahriye Tosun, Gül Serdaroğlu, Sanem Yilmaz, Haluk Topaloğlu, Banu Anlar, Sebahattin Cirak, Andrew G. Engel
J Child Neurol. Author manuscript; available in PMC 2018 Jul 1.
Published in final edited form as: J Child Neurol. 2017 Jul; 32(8): 759–765. Published online 2017 May 3. doi: 10.1177/0883073817705252
PMCID:
PMC5655993
AbstractArticlePDF–324K
15.
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao
Orphanet J Rare Dis. 2017; 12: 182. Published online 2017 Dec 19. doi: 10.1186/s13023-017-0732-z
PMCID:
PMC5735900
AbstractArticlePDF–724K
16.
New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report
Huiru Feng, Hongyu Zhou
Medicine (Baltimore) 2017 Dec; 96(51): e8981. Published online 2017 Dec 22. doi: 10.1097/MD.0000000000008981
PMCID:
PMC5758131
AbstractArticlePDF–333K
17.
An allosteric link connecting the lipid-protein interface to the gating of the nicotinic acetylcholine receptor
Jaimee A. Domville, John E. Baenziger
Sci Rep. 2018; 8: 3898. Published online 2018 Mar 1. doi: 10.1038/s41598-018-22150-x
PMCID:
PMC5832824
AbstractArticlePDF–3.2M
18.
The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes
Grace McMacken, Dan Cox, Andreas Roos, Juliane Müller, Roger Whittaker, Hanns Lochmüller
Hum Mol Genet. 2018 May 1; 27(9): 1556–1564. Published online 2018 Feb 16. doi: 10.1093/hmg/ddy062
PMCID:
PMC5905648
AbstractArticlePDF–1.1M
19.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pauline Jaubert, Oriana Tarabay, Frédéric Fer, Antoine Pegat, Françoise Bouhour, Juliette Svahn, Philippe Petiot, Laurentiu Jomir, Guy Chauplannaz, Catherine Cornut-Chauvinc, Véronique Manel, Emmanuelle Salort-Campana, Shahram Attarian, Etienne Fortanier, Annie Verschueren, Ludivine Kouton, Jean-Philippe Camdessanché, Céline Tard, Armelle Magot, Yann Péréon, Jean-Baptiste Noury, Marie-Christine Minot-Myhie, Maud Perie, Frederic Taithe, Yacine Farhat, Anne-Laure Millet, Pascal Cintas, Guilhem Solé, Marco Spinazzi, Florence Esselin, Dimitri Renard, Sabrina Sacconi, Andra Ezaru, Edoardo Malfatti, Martial Mallaret, Laurent Magy, Eva Diab, Philippe Merle, Maud Michaud, Maxime Fournier, Aleksandra Nadaj Pakleza, Jean-Baptiste Chanson, Claire Lefeuvre, Pascal Laforet, Pascale Richard, Damien Sternberg, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Bruno Eymard
Brain. 2024 Nov; 147(11): 3849–3862. Published online 2024 May 2. doi: 10.1093/brain/awae124
PMCID:
PMC11531845
AbstractArticlePDF–734K
20.
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
Ricardo A. Maselli, Juan Arredondo, Órla Cagney, Jarae J. Ng, Jennifer A. Anderson, Colette Williams, Bae J. Gerke, Betty Soliven, Robert L. Wollmann
Hum Mol Genet. 2010 Jun 15; 19(12): 2370–2379. Published online 2010 Apr 6. doi: 10.1093/hmg/ddq110
PMCID:
PMC2876883
AbstractArticlePDF–277K

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