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Items: 1 to 20 of 41

1.
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
Grace McMacken, Roger G. Whittaker, Ruth Wake, Hanns Lochmuller, Rita Horvath
J Neurol. 2023; 270(6): 3112–3119. Published online 2023 Mar 4. doi: 10.1007/s00415-023-11643-z
PMCID:
PMC10188419
AbstractArticlePDF–717K
2.
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
AbstractArticlePDF–3.3M
3.
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
AbstractArticlePDF–1.1M
4.
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
AbstractArticlePDF–756K
5.
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
AbstractArticlePDF–779K
6.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik-Jan Kamsteeg, Reza Maroofian, Katherine R. Chao, Corien C. Verschuuren-Bemelmans, Veronka Horber, Annemarie JM. Fock, Riley M. McCarty, Minal S. Jain, Victoria Biancavilla, Grace McMacken, Matthew Nalls, Nicol C. Voermans, Hasnaa M Elbendary, Molly Snyder, Chunyu Cai, Tanya Lehky, Valentina Stanley, Susan T. Iannaccone, A. Reghan Foley, Hanns Lochmüller, Joseph Gleeson, Henry Houlden, Tobias B. Haack, Rita Horvath, Carsten G. Bönnemann
Am J Med Genet A. Author manuscript; available in PMC 2021 Mar 15.
Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2272–2283. Published online 2020 Aug 10. doi: 10.1002/ajmg.a.61765
PMCID:
PMC7959540
AbstractArticlePDF–778K
7.
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
AbstractArticlePDF–5.0M
8.
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
AbstractArticlePDF–1.8M
9.
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
AbstractArticle
10.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller
Eur J Hum Genet. 2020 Mar; 28(3): 373–377. Published online 2019 Sep 16. doi: 10.1038/s41431-019-0506-2
PMCID:
PMC7029005
AbstractArticlePDF–487K
11.
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
AbstractArticlePDF–2.2M
12.
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
AbstractArticlePDF–2.1M
13.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, Stephanie Robb, Pinki Munot, Wei Wei Liu, Siddharth Banka, Harry Fraser, Christian De Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, Margarida Gratacos, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hans Lochmüller, Jacqueline Palace, David Beeson
Brain. 2019 Jun; 142(6): 1547–1560. Published online 2019 May 13. doi: 10.1093/brain/awz107
PMCID:
PMC6752227
AbstractArticlePDF–1.2M
14.
Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4
John B Rudell, Ricardo A Maselli, Vladimir Yarov-Yarovoy, Michael J Ferns
Hum Mol Genet. 2019 Aug 15; 28(16): 2648–2658. Published online 2019 Apr 17. doi: 10.1093/hmg/ddz081
PMCID:
PMC6687949
AbstractArticlePDF–20M
15.
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4
Nathaniel Elia, Johanna Palmio, Marisol Sampedro Castañeda, Perry B. Shieh, Marbella Quinonez, Tiina Suominen, Michael G. Hanna, Roope Männikkö, Bjarne Udd, Stephen C. Cannon
Neurology. 2019 Mar 26; 92(13): e1405–e1415. doi: 10.1212/WNL.0000000000007185
PMCID:
PMC6453767
AbstractArticlePDF–806K
16.
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis, Sally Spendiff, Clarke R Slater, Andreas Roos, Hanns Lochmüller
Hum Mol Genet. 2018 Sep 15; 27(18): 3218–3232. Published online 2018 Jun 14. doi: 10.1093/hmg/ddy225
PMCID:
PMC6121184
AbstractArticlePDF–2.0M
17.
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4
Sushan Luo, Marisol Sampedro Castañeda, Emma Matthews, Richa Sud, Michael G. Hanna, Jian Sun, Jie Song, Jiahong Lu, Kai Qiao, Chongbo Zhao, Roope Männikkö
Sci Rep. 2018; 8: 9714. Published online 2018 Jun 26. doi: 10.1038/s41598-018-27822-2
PMCID:
PMC6018793
AbstractArticlePDF–1.8M
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.
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
Lancet. 2018 Apr 14; 391(10129): 1483–1492. doi: 10.1016/S0140-6736(18)30021-7
PMCID:
PMC5899997
AbstractArticlePDF–1.7M
20.
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

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