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Select item 109639301.

Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2

Bisei Ohkawara, Hiroyuki Tomita, Taro Inoue, Shaochuan Zhang, Shunsuke Kanbara, Hiroyuki Koshimizu, Yuki Miyasaka, Jun-ichi Takeda, Hiroshi Nishiwaki, Hiroaki Nakashima, Mikako Ito, Akio Masuda, Naoki Ishiguro, Tomoo Ogi, Tamio Ohno, Shiro Imagama, Kinji Ohno

Neurotherapeutics. 2024 Mar; 21(2): e00318. Published online 2024 Jan 16. doi: 10.1016/j.neurot.2024.e00318

PMCID:: PMC10963930

Abstract Article PDF–1.5M

Select item 109357732.

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi

Orphanet J Rare Dis. 2024; 19: 113. Published online 2024 Mar 12. doi: 10.1186/s13023-024-03116-x

PMCID:: PMC10935773

Abstract Article PDF–1.9M

Select item 106713213.

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

Susie Barbeau, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg, Emmanuel Fournier, Hanice Karasoy, Cécile Martinat, Claire Legay

Int J Mol Sci. 2023 Nov; 24(22): 16217. Published online 2023 Nov 11. doi: 10.3390/ijms242216217

PMCID:: PMC10671321

Abstract Article PDF–3.1M

Select item 104626814.

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, Morgane Euchparmakian, Myriam Boex, Anthony Behin, Kamel Mamchaouhi, Thierry Maisonobe, Marie-Christine Nougues, Arnaud Isapof, Bertrand Fontaine, Julien Messéant, Bruno Eymard, Laure Strochlic, Stéphanie Bauché

Sci Rep. 2023; 13: 14054. Published online 2023 Aug 28. doi: 10.1038/s41598-023-41008-5

PMCID:: PMC10462681

Abstract Article PDF–2.0M

Select item 101173785.

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells

Shaochuan Zhang, Bisei Ohkawara, Mikako Ito, Zhizhou Huang, Fei Zhao, Tomohiko Nakata, Tomoya Takeuchi, Hidetoshi Sakurai, Hirofumi Komaki, Masayoshi Kamon, Toshiyuki Araki, Kinji Ohno

Hum Mol Genet. 2023 May 1; 32(9): 1511–1523. Published online 2022 Dec 29. doi: 10.1093/hmg/ddac306

PMCID:: PMC10117378

Abstract Article PDF–2.2M

Select item 99610566.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

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

Int J Mol Sci. 2023 Feb; 24(4): 3730. Published online 2023 Feb 13. doi: 10.3390/ijms24043730

PMCID:: PMC9961056

Abstract Article PDF–3.3M

Select item 98866277.

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

Martin Krenn, Merve Sener, Jakob Rath, Gudrun Zulehner, Omar Keritam, Matias Wagner, Franco Laccone, Stephan Iglseder, Sonja Marte, Manuela Baumgartner, Astrid Eisenkölbl, Christian Liechtenstein, Sabine Rudnik, Stefan Quasthoff, Susanne Grinzinger, Johannes Spenger, Saskia B. Wortmann, Wolfgang N. Löscher, Fritz Zimprich, Anna Kellersmann, Mika Rappold, Günther Bernert, Michael Freilinger, Hakan Cetin

J Neurol. 2023; 270(2): 909–916. Published online 2022 Oct 29. doi: 10.1007/s00415-022-11440-0

PMCID:: PMC9886627

Abstract Article PDF–443K

Select item 95700388.

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice

Lillian F. Hyde, Yang Kong, Lihong Zhao, Sriganesh Ramachandra Rao, Jieping Wang, Lisa Stone, Andrew Njaa, Gayle B. Collin, Mark P. Krebs, Bo Chang, Steven J. Fliesler, Patsy M. Nishina, Jürgen K. Naggert

Int J Mol Sci. 2022 Oct; 23(19): 12005. Published online 2022 Oct 9. doi: 10.3390/ijms231912005

PMCID:: PMC9570038

Abstract Article PDF–2.5M

Select item 92795979.

Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre

Kun Huang, Hui‐Qian Duan, Qiu‐Xiang Li, Yue‐Bei Luo, Fang‐Fang Bi, Huan Yang

J Cell Mol Med. 2022 Jul; 26(14): 3828–3836. Published online 2022 Jun 6. doi: 10.1111/jcmm.17417

PMCID:: PMC9279597

Abstract Article PDF–1.1M

Select item 884275710.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 837207511.

LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay

Xiaoyuan Wang, Huijie Xiao, Baige Su, Yali Ren, Jie Ding, Fang Wang

Mol Genet Genomic Med. 2021 Jul; 9(7): e1704. Published online 2021 May 13. doi: 10.1002/mgg3.1704

PMCID:: PMC8372075

Abstract Article PDF–1.0M

Select item 827757412.

Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia

Julien Oury, Wei Zhang, Nadia Leloup, Akiko Koide, Alexis D. Corrado, Gayatri Ketavarapu, Takamitsu Hattori, Shohei Koide, Steven J. Burden

Nature. 2021; 595(7867): 404–408. Published online 2021 Jun 23. doi: 10.1038/s41586-021-03672-3

PMCID:: PMC8277574

Abstract Article PDF–6.6M

Select item 821733113.

Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation

Guanglin Xing, Hongyang Jing, Zheng Yu, Peng Chen, Hongsheng Wang, Wen-Cheng Xiong, Lin Mei

Neuron. Author manuscript; available in PMC 2022 Jun 16.

Published in final edited form as: Neuron. 2021 Jun 16; 109(12): 1963–1978.e5. Published online 2021 May 24. doi: 10.1016/j.neuron.2021.04.021

Correction in:: Neuron. 2022 Jan 19; 110(2): 350.

PMCID:: PMC8217331

Abstract Article PDF–3.6M

Select item 804590814.

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Yawen Zhao, Ying Li, Yang Bian, Sheng Yao, Penju Liu, Meng Yu, Wei Zhang, Zhaoxia Wang, Yun Yuan

Ann Clin Transl Neurol. 2021 Apr; 8(4): 898–907. Published online 2021 Mar 23. doi: 10.1002/acn3.51346

PMCID:: PMC8045908

Abstract Article PDF–1.0M

Select item 773472515.

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 720526016.

Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner

Bisei Ohkawara, XinMing Shen, Duygu Selcen, Mohammad Nazim, Vera Bril, Mark A. Tarnopolsky, Lauren Brady, Sae Fukami, Anthony A. Amato, Uluc Yis, Kinji Ohno, Andrew G. Engel

JCI Insight. 2020 Apr 9; 5(7): e132023. Published online 2020 Apr 9. doi: 10.1172/jci.insight.132023

PMCID:: PMC7205260

Abstract Article PDF–6.3M

Select item 702809417.

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

Pedro M. Rodríguez Cruz, Judith Cossins, Jonathan Cheung, Susan Maxwell, Sandeep Jayawant, Ruth Herbst, Dominic Waithe, Alexandr P. Kornev, Jacqueline Palace, David Beeson

Hum Mutat. 2020 Mar; 41(3): 619–631. Published online 2019 Nov 25. doi: 10.1002/humu.23949

PMCID:: PMC7028094

Abstract Article PDF–5.9M

Select item 693863818.

Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape

Reham M. Milhem, Bassam R. Ali

Mol Med. 2020; 26: 4. Published online 2019 Dec 31. doi: 10.1186/s10020-019-0129-7

PMCID:: PMC6938638

Abstract Article PDF–2.2M

Select item 692456619.

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

Chaya Murali, Dong Li, Katheryn Grand, Hakon Hakonarson, Elizabeth Bhoj

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 20.

Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 655–658. Published online 2019 Feb 4. doi: 10.1002/ajmg.a.61060

PMCID:: PMC6924566

Abstract Article PDF–49K

Select item 680116720.

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

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