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Select item 109357731.

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 101384962.

TOR1AIP1-Associated Nuclear Envelopathies

Laurane Mackels, Xincheng Liu, Gisèle Bonne, Laurent Servais

Int J Mol Sci. 2023 Apr; 24(8): 6911. Published online 2023 Apr 7. doi: 10.3390/ijms24086911

PMCID:: PMC10138496

Abstract Article PDF–1.1M

Select item 99610563.

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 98866274.

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 98085585.

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

Hayley M. Reynolds, Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E. Boyden, Pinar Bayrak-Toydemir, Thomas J. Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua L. Bonkowsky, Brian J. Shayota, Sabrina Malone Jenkins

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006242. doi: 10.1101/mcs.a006242

PMCID:: PMC9808558

Abstract Article PDF–5.4M

Select item 95700386.

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 94680887.

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Arnaud Jacquier, Valérie Risson, Thomas Simonet, Florine Roussange, Nicolas Lacoste, Shams Ribault, Julien Carras, Julian Theuriet, Emmanuelle Girard, Isabelle Grosjean, Laure Le Goff, Stephan Kröger, Julia Meltoranta, Stéphanie Bauché, Damien Sternberg, Emmanuel Fournier, Anna Kostera-Pruszczyk, Emily O’Connor, Bruno Eymard, Hanns Lochmüller, Cécile Martinat, Laurent Schaeffer

Acta Neuropathol. 2022; 144(4): 707–731. Published online 2022 Aug 10. doi: 10.1007/s00401-022-02475-8

PMCID:: PMC9468088

Abstract Article PDF–22M

Select item 92795978.

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 89900139.

The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis

A. V. Kemppainen, M. A. Finnilä, A. Heikkinen, H. Härönen, V. Izzi, S. Kauppinen, S. Saarakkala, T. Pihlajaniemi, J. Koivunen

Sci Rep. 2022; 12: 5866. Published online 2022 Apr 7. doi: 10.1038/s41598-022-09653-4

PMCID:: PMC8990013

Abstract Article PDF–2.4M

Select item 898724410.

Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome

Ping Xia, Fei Xie, Zhi-Jie Zhou, Wen Lv

Intern Med. 2022 Mar 15; 61(6): 887–890. Published online 2021 Aug 24. doi: 10.2169/internalmedicine.7774-21

PMCID:: PMC8987244

Abstract Article PDF–1.1M

Select item 895714411.

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

Mohamed Islam Kediha, Meriem Tazir, Damien Sternberg, Bruno Eymard, Lamia Alipacha

J Med Case Rep. 2022; 16: 134. Published online 2022 Mar 26. doi: 10.1186/s13256-022-03268-z

PMCID:: PMC8957144

Abstract Article PDF–756K

Select item 884275712.

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 827757413.

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 821733114.

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 804590815.

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 795638216.

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 773472517.

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 748381818.

A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating

Xin-Ming Shen, Li Di, Shelley Shen, Yuying Zhao, Ann M Neumeyer, Duygu Selcen, Steven M. Sine, Andrew G. Engel

Exp Neurol. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Exp Neurol. 2020 Sep; 331: 113375. Published online 2020 Jun 3. doi: 10.1016/j.expneurol.2020.113375

PMCID:: PMC7483818

Abstract Article PDF–1.8M

Select item 747748919.

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

Albert Z. Lim, Grace McMacken, Francesca Rastelli, Monika Oláhová, Karen Baty, Sila Hopton, Gavin Falkous, Ana Töpf, Hanns Lochmüller, Chiara Marini-Bettolo, Robert McFarland, Robert W. Taylor

Neuromuscul Disord. 2020 Aug; 30(8): 661–668. doi: 10.1016/j.nmd.2020.06.008

PMCID:: PMC7477489

Abstract Article

Select item 739718720.

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Magdalena Mroczek, Hacer Durmus, Ana Töpf, Yesim Parman, Volker Straub

Genes (Basel) 2020 Jul; 11(7): 716. Published online 2020 Jun 27. doi: 10.3390/genes11070716

PMCID:: PMC7397187

Abstract Article PDF–1.7M

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