296 related articles for article (PubMed ID: 28712002)
41. Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Belaya K; Finlayson S; Cossins J; Liu WW; Maxwell S; Palace J; Beeson D
Ann N Y Acad Sci; 2012 Dec; 1275():29-35. PubMed ID: 23278575
[TBL] [Abstract][Full Text] [Related]
42. Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Durmus H; Shen XM; Serdaroglu-Oflazer P; Kara B; Parman-Gulsen Y; Ozdemir C; Brengman J; Deymeer F; Engel AG
Neuromuscul Disord; 2018 Apr; 28(4):315-322. PubMed ID: 29395675
[TBL] [Abstract][Full Text] [Related]
43. 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; 21(17):3765-75. PubMed ID: 22661499
[TBL] [Abstract][Full Text] [Related]
44. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.
Munot P; Lashley D; Jungbluth H; Feng L; Pitt M; Robb SA; Palace J; Jayawant S; Kennet R; Beeson D; Cullup T; Abbs S; Laing N; Sewry C; Muntoni F
Neuromuscul Disord; 2010 Dec; 20(12):796-800. PubMed ID: 20951040
[TBL] [Abstract][Full Text] [Related]
45. Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway.
Beeson D; Cossins J; Rodriguez Cruz PM; Maxwell S; Liu WW; Palace J
Ann N Y Acad Sci; 2018 Feb; 1413(1):163-169. PubMed ID: 29363764
[TBL] [Abstract][Full Text] [Related]
46. Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM; Palace J; Beeson D
Curr Opin Neurol; 2014 Oct; 27(5):566-75. PubMed ID: 25159927
[TBL] [Abstract][Full Text] [Related]
47. Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
Selcen D; Ohkawara B; Shen XM; McEvoy K; Ohno K; Engel AG
JAMA Neurol; 2015 Aug; 72(8):889-96. PubMed ID: 26052878
[TBL] [Abstract][Full Text] [Related]
48. [Differential congenital myasthenia syndrome diagnosis].
Spuler S; Lehmann TN; Engel AG
Nervenarzt; 2004 Feb; 75(2):141-4. PubMed ID: 14770284
[TBL] [Abstract][Full Text] [Related]
49. [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;
Rev Neurol (Paris); 2013 Feb; 169 Suppl 1():S45-55. PubMed ID: 23452772
[TBL] [Abstract][Full Text] [Related]
50. Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.
Webster RG; Vanhaesebrouck AE; Maxwell SE; Cossins JA; Liu W; Ueta R; Yamanashi Y; Beeson DMW
Hum Mol Genet; 2020 Aug; 29(14):2325-2336. PubMed ID: 32543656
[TBL] [Abstract][Full Text] [Related]
51. The unfolding landscape of the congenital myasthenic syndromes.
Engel AG; Shen XM; Selcen D
Ann N Y Acad Sci; 2018 Feb; 1413(1):25-34. PubMed ID: 29355968
[TBL] [Abstract][Full Text] [Related]
52. Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö; Cinleti T; Günay Ç; Sarıkaya Uzan G; Giray Bozkaya Ö; Çağlayan AO; Hız Kurul S; Yiş U
Acta Neurol Belg; 2023 Dec; 123(6):2325-2335. PubMed ID: 37656362
[TBL] [Abstract][Full Text] [Related]
53. Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.
An R; Chen H; Lei S; Li Y; Xu Y; He C
Front Neurol; 2022; 13():926786. PubMed ID: 36188410
[TBL] [Abstract][Full Text] [Related]
54. Congenital myasthenic syndromes: an update.
Hantaï D; Nicole S; Eymard B
Curr Opin Neurol; 2013 Oct; 26(5):561-8. PubMed ID: 23995276
[TBL] [Abstract][Full Text] [Related]
55. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J; Belaya K; Hicks D; Salih MA; Finlayson S; Carboni N; Liu WW; Maxwell S; Zoltowska K; Farsani GT; Laval S; Seidhamed MZ; ; Donnelly P; Bentley D; McGowan SJ; Müller J; Palace J; Lochmüller H; Beeson D
Brain; 2013 Mar; 136(Pt 3):944-56. PubMed ID: 23404334
[TBL] [Abstract][Full Text] [Related]
56. Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
Rodríguez Cruz PM; Sewry C; Beeson D; Jayawant S; Squier W; McWilliam R; Palace J
Neuromuscul Disord; 2014 Dec; 24(12):1103-10. PubMed ID: 25127990
[TBL] [Abstract][Full Text] [Related]
57. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
Compton AG; Albrecht DE; Seto JT; Cooper ST; Ilkovski B; Jones KJ; Challis D; Mowat D; Ranscht B; Bahlo M; Froehner SC; North KN
Am J Hum Genet; 2008 Dec; 83(6):714-24. PubMed ID: 19026398
[TBL] [Abstract][Full Text] [Related]
58. Congenital Myasthenic Syndromes.
Iyadurai SJP
Neurol Clin; 2020 Aug; 38(3):541-552. PubMed ID: 32703467
[TBL] [Abstract][Full Text] [Related]
59. Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
McMacken G; Whittaker RG; Wake R; Lochmuller H; Horvath R
J Neurol; 2023 Jun; 270(6):3112-3119. PubMed ID: 36869887
[TBL] [Abstract][Full Text] [Related]
60. Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.
Huang K; Duan HQ; Li QX; Luo YB; Bi FF; Yang H
J Cell Mol Med; 2022 Jul; 26(14):3828-3836. PubMed ID: 35670010
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]