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Items: 16

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.

Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008.

2.

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

Huh SY, Kim HS, Jang HJ, Park YE, Kim DS.

Muscle Nerve. 2012 Oct;46(4):600-4. doi: 10.1002/mus.23451. Review.

PMID:
22987706
3.

Current status of the congenital myasthenic syndromes.

Engel AG.

Neuromuscul Disord. 2012 Feb;22(2):99-111. doi: 10.1016/j.nmd.2011.10.009. Epub 2011 Nov 21. Review.

4.

Genetic defects in the hexosamine and sialic acid biosynthesis pathway.

Willems AP, van Engelen BG, Lefeber DJ.

Biochim Biophys Acta. 2016 Aug;1860(8):1640-54. doi: 10.1016/j.bbagen.2015.12.017. Epub 2015 Dec 22. Review.

PMID:
26721333
5.

Congenital myasthenic syndromes in 2012.

Engel AG.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. Review.

6.

Congenital myasthenic syndromes and the neuromuscular junction.

Rodríguez Cruz PM, Palace J, Beeson D.

Curr Opin Neurol. 2014 Oct;27(5):566-75. doi: 10.1097/WCO.0000000000000134. Review.

PMID:
25159927
7.

Congenital myasthenic syndromes: recent advances.

Beeson D.

Curr Opin Neurol. 2016 Oct;29(5):565-71. doi: 10.1097/WCO.0000000000000370. Review.

PMID:
27472506
8.

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS, Mihaylova V, Abicht A, Lochmüller H.

Expert Rev Mol Med. 2007 Aug 9;9(22):1-20. Review.

PMID:
17686188
9.

[Molecular mechanisms underlying the formation of neuromuscular junction].

Higuchi O, Yamanashi Y.

Brain Nerve. 2011 Jul;63(7):649-55. Review. Japanese.

PMID:
21747134
10.

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].

Andreux F, Hantaï D, Eymard B.

Rev Neurol (Paris). 2004 Feb;160(2):163-76. Review. French.

PMID:
15034473
11.

Congenital myasthenic syndromes.

Eymard B, Hantaï D, Estournet B.

Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. Review.

PMID:
23622369
12.

[Experimental and pathological changes of the neuromuscular junction].

Koenig J, Bauché S, Ben Ammar A, Nicolle D, Rigoard P, Eymard B, Hantaï D.

Neurochirurgie. 2009 Mar;55 Suppl 1:S104-9. doi: 10.1016/j.neuchi.2008.05.008. Epub 2009 Feb 10. Review. French.

PMID:
19211115
13.

Hexosamines, insulin resistance, and the complications of diabetes: current status.

Buse MG.

Am J Physiol Endocrinol Metab. 2006 Jan;290(1):E1-E8. Review.

14.

Hexosamine pathway and (ER) protein quality control.

Denzel MS, Antebi A.

Curr Opin Cell Biol. 2015 Apr;33:14-8. doi: 10.1016/j.ceb.2014.10.001. Epub 2014 Oct 28. Review.

PMID:
25463841
15.

Sleuthing molecular targets for neurological diseases at the neuromuscular junction.

Engel AG, Ohno K, Sine SM.

Nat Rev Neurosci. 2003 May;4(5):339-52. Review. No abstract available.

PMID:
12728262
16.

Clinical and research strategies for limb-girdle congenital myasthenic syndromes.

O'Connor E, Töpf A, Zahedi RP, Spendiff S, Cox D, Roos A, Lochmüller H.

Ann N Y Acad Sci. 2018 Jan;1412(1):102-112. doi: 10.1111/nyas.13520. Epub 2018 Jan 5. Review.

PMID:
29315608

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