Engel AG - Search Results

1

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST. O'Grady GL, et al. Among authors: engel ag. Neurology. 2016 Oct 4;87(14):1442-1448. doi: 10.1212/WNL.0000000000003179. Epub 2016 Sep 2. Neurology. 2016. PMID: 27590285 Free PMC article.

2

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X. Guo Y, et al. Neuromuscul Disord. 2015 Mar;25(3):257-61. doi: 10.1016/j.nmd.2014.11.017. Epub 2014 Dec 10. Neuromuscul Disord. 2015. PMID: 25557462 Free PMC article.

3

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine.

Harper CM, Fukodome T, Engel AG. Harper CM, et al. Among authors: engel ag. Neurology. 2003 May 27;60(10):1710-3. doi: 10.1212/01.wnl.0000061483.11417.1b. Neurology. 2003. PMID: 12771277

4

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

Engel AG, Shen XM, Selcen D, Sine SM. Engel AG, et al. Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. Lancet Neurol. 2015. PMID: 25792100 Free PMC article. Review.

5

Novel congenital myasthenic syndromes associated with defects in quantal release.

Milone M, Fukuda T, Shen XM, Tsujino A, Brengman J, Engel AG. Milone M, et al. Among authors: engel ag. Neurology. 2006 Apr 25;66(8):1223-9. doi: 10.1212/01.wnl.0000205596.19540.2c. Epub 2006 Mar 8. Neurology. 2006. PMID: 16525123

6

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Milone M, et al. Among authors: engel ag. Neurology. 2009 Jul 21;73(3):228-35. doi: 10.1212/WNL.0b013e3181ae7cbc. Neurology. 2009. PMID: 19620612 Free PMC article.

7

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG. Régal L, et al. Among authors: engel ag. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7. Neurology. 2014. PMID: 24610330 Free PMC article.

8

Congenital Myasthenic Syndromes in 2018.

Engel AG. Engel AG. Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46. doi: 10.1007/s11910-018-0852-4. Curr Neurol Neurosci Rep. 2018. PMID: 29892917 Review.

9

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. Shen XM, et al. Among authors: engel ag. Neurology. 2002 Dec 24;59(12):1881-8. doi: 10.1212/01.wnl.0000042422.87384.2f. Neurology. 2002. PMID: 12499478

10

Congenital myasthenic syndromes.

Engel AG, Ohno K. Engel AG, et al. Adv Neurol. 2002;88:203-15. Adv Neurol. 2002. PMID: 11908226 Review. No abstract available.

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