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Items: 1 to 20 of 127

1.

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.

Mahjneh I, Lochmüller H, Muntoni F, Abicht A.

Neuromuscul Disord. 2013 Jan;23(1):36-42. doi: 10.1016/j.nmd.2012.06.355. Epub 2012 Aug 9.

PMID:
22884442
2.

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

Burke G, Hiscock A, Klein A, Niks EH, Main M, Manzur AY, Ng J, de Vile C, Muntoni F, Beeson D, Robb S.

Neuromuscul Disord. 2013 Feb;23(2):170-5. doi: 10.1016/j.nmd.2012.11.004. Epub 2012 Dec 5.

3.

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.

Tsao CY.

Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Review.

PMID:
26552645
4.

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC.

J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19.

PMID:
23790237
5.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17.

PMID:
17439981
6.

DOK7 congenital myasthenic syndrome.

Palace J.

Ann N Y Acad Sci. 2012 Dec;1275:49-53. doi: 10.1111/j.1749-6632.2012.06779.x.

PMID:
23278577
7.

Familial Dok7 congenital myasthenic syndrome responsive to salbutamol.

Maramattom BV, Patil R, Thomas J.

Neurol India. 2014 May-Jun;62(3):313. doi: 10.4103/0028-3886.136999. No abstract available.

8.

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

Lashley D, Palace J, Jayawant S, Robb S, Beeson D.

Neurology. 2010 May 11;74(19):1517-23. doi: 10.1212/WNL.0b013e3181dd43bf.

9.

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y, Beeson D.

Brain. 2007 Jun;130(Pt 6):1507-15. Epub 2007 Apr 23.

PMID:
17452375
10.

LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.

Løkken N, Born AP, Duno M, Vissing J.

Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.

PMID:
25663498
11.

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

Montagnese F, Klupp E, Karampinos DC, Biskup S, Gläser D, Kirschke JS, Schoser B.

Muscle Nerve. 2017 Aug;56(2):334-340. doi: 10.1002/mus.25485. Epub 2017 Feb 23.

PMID:
27874200
12.

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H.

Neuromuscul Disord. 2009 Dec;19(12):828-32. doi: 10.1016/j.nmd.2009.09.008. Epub 2009 Oct 17.

PMID:
19837590
13.

Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.

Khadilkar S, Bhutada A, Nallamilli B, Hegde M.

Indian Pediatr. 2015 Mar 8;52(3):243-4.

14.

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B.

Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17.

PMID:
20610155
15.

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

Jephson CG, Mills NA, Pitt MC, Beeson D, Aloysius A, Muntoni F, Robb SA, Bailey CM.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):991-4. doi: 10.1016/j.ijporl.2010.05.022. Epub 2010 Jun 15.

PMID:
20554332
16.

[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

Nishikawa A, Mori-Yoshimura M, Okamoto T, Oya Y, Nakata T, Ohno K, Murata M.

Rinsho Shinkeigaku. 2014;54(7):561-4. Japanese.

PMID:
25087557
17.

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D.

Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1.

PMID:
22661499
18.

Update on the genetics of limb girdle muscular dystrophy.

Mitsuhashi S, Kang PB.

Semin Pediatr Neurol. 2012 Dec;19(4):211-8. doi: 10.1016/j.spen.2012.09.008. Review.

PMID:
23245554
19.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A.

Neuromuscul Disord. 2014 Jan;24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7.

20.

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA.

J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15.

PMID:
18707767

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