Similar articles for PMID: 21310273

Year	Number of Results
1999	2
2000	1
2001	2
2002	1
2003	3
2004	4
2005	1
2006	1
2007	2
2008	2
2009	2
2010	1
2011	6
2012	5
2013	7
2014	4
2015	8
2016	5
2017	5
2018	14
2019	7
2020	4
2021	2
2022	4
2024	0

1

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Senderek J, et al. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. Am J Hum Genet. 2011. PMID: 21310273 Free PMC article.

2

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).

Chen Q, Müller JS, Pang PC, Laval SH, Haslam SM, Lochmüller H, Dell A. Chen Q, et al. Biomolecules. 2015 Oct 16;5(4):2758-81. doi: 10.3390/biom5042758. Biomolecules. 2015. PMID: 26501342 Free PMC article.

3

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Zoltowska K, Webster R, Finlayson S, Maxwell S, Cossins J, Müller J, Lochmüller H, Beeson D. Zoltowska K, et al. Hum Mol Genet. 2013 Jul 15;22(14):2905-13. doi: 10.1093/hmg/ddt145. Epub 2013 Apr 8. Hum Mol Genet. 2013. PMID: 23569079

4

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Bauché S, et al. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002

5

Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations.

Huh SY, Kim HS, Jang HJ, Park YE, Kim DS. Huh SY, et al. Muscle Nerve. 2012 Oct;46(4):600-4. doi: 10.1002/mus.23451. Muscle Nerve. 2012. PMID: 22987706 Review.

6

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.

7

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507

8

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.

Maselli RA, Arredondo J, Nguyen J, Lara M, Ng F, Ngo M, Pham JM, Yi Q, Stajich JM, McDonald K, Hauser MA, Wollmann RL. Maselli RA, et al. Clin Genet. 2014 Feb;85(2):166-71. doi: 10.1111/cge.12118. Epub 2013 Mar 11. Clin Genet. 2014. PMID: 23488891

9

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Dusl M, Senderek J, Müller JS, Vogel JG, Pertl A, Stucka R, Lochmüller H, David R, Abicht A. Dusl M, et al. Hum Mol Genet. 2015 Jun 15;24(12):3418-26. doi: 10.1093/hmg/ddv090. Epub 2015 Mar 12. Hum Mol Genet. 2015. PMID: 25765662

10

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H. Müller JS, et al. Hum Mol Genet. 2010 May 1;19(9):1726-40. doi: 10.1093/hmg/ddq049. Epub 2010 Feb 10. Hum Mol Genet. 2010. PMID: 20147321

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