Engel AG - Search Results

1

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.

Liewluck T, Milone M, Tian X, Engel AG, Staff NP, Wong LJ. Liewluck T, et al. Among authors: engel ag. Muscle Nerve. 2016 Jun;53(6):984-8. doi: 10.1002/mus.25054. Epub 2016 Apr 25. Muscle Nerve. 2016. PMID: 26802438

2

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

Liewluck T, Lovell TL, Bite AV, Engel AG. Liewluck T, et al. Among authors: engel ag. Neuromuscul Disord. 2010 Dec;20(12):801-4. doi: 10.1016/j.nmd.2010.07.273. Neuromuscul Disord. 2010. PMID: 20817456 Free PMC article.

3

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.

Liewluck T, Shen XM, Milone M, Engel AG. Liewluck T, et al. Among authors: engel ag. Neuromuscul Disord. 2011 Jun;21(6):387-95. doi: 10.1016/j.nmd.2011.03.002. Epub 2011 Apr 8. Neuromuscul Disord. 2011. PMID: 21482111 Free PMC article.

4

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

Liewluck T, Selcen D, Engel AG. Liewluck T, et al. Among authors: engel ag. Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176. Epub 2011 Sep 23. Muscle Nerve. 2011. PMID: 21952943 Free PMC article.

5

A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.

Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M. Nicolau S, et al. Among authors: engel ag. Neuromuscul Disord. 2019 Aug;29(8):614-617. doi: 10.1016/j.nmd.2019.07.001. Epub 2019 Jul 5. Neuromuscul Disord. 2019. PMID: 31378432 Free PMC article.

6

A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy.

Nicolau S, Liewluck T, Elliott JL, Engel AG, Milone M. Nicolau S, et al. Among authors: engel ag. Neuromuscul Disord. 2020 Mar;30(3):236-240. doi: 10.1016/j.nmd.2020.02.005. Epub 2020 Feb 12. Neuromuscul Disord. 2020. PMID: 32165108

7

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate.

Milone M, Hutchinson DO, Engel AG. Milone M, et al. Among authors: engel ag. Muscle Nerve. 1994 Dec;17(12):1364-9. doi: 10.1002/mus.880171204. Muscle Nerve. 1994. PMID: 7526207

8

Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.

Liewluck T, Tracy JA, Sorenson EJ, Engel AG. Liewluck T, et al. Among authors: engel ag. Neuromuscul Disord. 2013 Feb;23(2):133-8. doi: 10.1016/j.nmd.2012.09.010. Epub 2012 Nov 9. Neuromuscul Disord. 2013. PMID: 23142638 Review.

9

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.

Kao JC, Milone M, Selcen D, Shen XM, Engel AG, Liewluck T. Kao JC, et al. Among authors: engel ag. Neurology. 2018 Nov 6;91(19):e1770-e1777. doi: 10.1212/WNL.0000000000006478. Epub 2018 Oct 5. Neurology. 2018. PMID: 30291185 Free PMC article.

10

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.

Ohno K, Milone M, Shen XM, Engel AG. Ohno K, et al. Among authors: engel ag. Hum Mol Genet. 2003 Dec 1;12(23):3055-66. doi: 10.1093/hmg/ddg334. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532324

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