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Items: 1 to 20 of 121

1.

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.

PMID:
23790237
2.

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.

3.

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.

4.

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. Review.

PMID:
26552645
5.

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.

6.

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.

Rodríguez Cruz PM, Palace J, Ramjattan H, Jayawant S, Robb SA, Beeson D.

Neurology. 2015 Sep 22;85(12):1043-7.

7.

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
8.

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.

Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D.

Muscle Nerve. 2013 Feb;47(2):279-82. doi: 10.1002/mus.23534.

PMID:
23281026
9.

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.

PMID:
17439981
10.

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.

11.

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.

Liewluck T, Selcen D, Engel AG.

Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176.

12.

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.

13.

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.

PMID:
22884442
14.

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

Witting N, Vissing J.

JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. Review.

PMID:
24425145
15.

Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations.

Sadeh M, Shen XM, Engel AG.

Muscle Nerve. 2011 Aug;44(2):289-91. doi: 10.1002/mus.22153.

16.

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D; Membres du réseau national Syndromes Myasthéniques Congénitaux..

Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Review. French.

PMID:
23452772
17.

Variable phenotypes associated with mutations in DOK7.

Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, Wollmann RL, Maselli RA.

Muscle Nerve. 2008 Apr;37(4):448-56.

PMID:
18161030
18.

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.

J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z.

PMID:
21975507
19.

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.

PMID:
17452375
20.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.

Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325.

PMID:
18180250
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