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Items: 1 to 20 of 154

1.

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
2.

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
3.

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA.

Neuromuscul Disord. 2013 Nov;23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3.

PMID:
23831158
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. Epub 2015 Nov 6. Review.

PMID:
26552645
5.

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
6.

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
7.

Congenital Myasthenic Syndromes.

Abicht A, Müller J S, Lochmüller H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 May 9 [updated 2016 Jul 14].

8.

[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
9.

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. Epub 2008 Jan 7.

PMID:
18180250
10.

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
11.

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.

12.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B.

J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11.

PMID:
20012313
13.

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. Epub 2011 Oct 6.

PMID:
21975507
14.

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A.

Neurology. 2003 Jun 10;60(11):1805-10.

PMID:
12796535
15.

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
16.

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
17.

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.

Dilena R, Abicht A, Sergi P, Comi GP, Di Fonzo A, Chidini G, Natacci F, Barbieri S, Lochmüller H.

J Child Neurol. 2014 Mar;29(3):389-93. doi: 10.1177/0883073812470000. Epub 2013 Jan 4.

PMID:
23292760
18.

[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
19.
20.

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

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