Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 387

1.

Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity.

Espinoza IO, Reynoso C, Chávez G, Engel AG.

Medwave. 2019 Jun 4;19(5):e7645. doi: 10.5867/medwave.2019.05.7645. Spanish, English.

PMID:
31226102
2.

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Thompson R, Abicht A, Beeson D, Engel AG, Eymard B, Maxime E, Lochmüller H.

Orphanet J Rare Dis. 2018 Nov 26;13(1):211. doi: 10.1186/s13023-018-0955-7.

3.

Correction to: The Therapy of Congenital Myasthenic Syndromes.

Engel AG.

Neurotherapeutics. 2019 Jan;16(1):244. doi: 10.1007/s13311-018-00672-6.

4.

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.

Neurology. 2018 Nov 6;91(19):e1770-e1777. doi: 10.1212/WNL.0000000000006478. Epub 2018 Oct 5.

PMID:
30291185
5.

Corrigendum to "Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up" [Neuromuscular Disorders 28/4 (2018) 315-322].

Durmus H, Shen XM, Serdaroglu-Oflazer P, Kara B, Parman-Gulsen Y, Ozdemir C, Brengman J, Deymeer F, Engel AG.

Neuromuscul Disord. 2018 Oct;28(10):896. doi: 10.1016/j.nmd.2018.07.007. No abstract available.

6.

Congenital Myasthenic Syndromes in 2018.

Engel AG.

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

PMID:
29892917
7.

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

Niu Z, Pontifex CS, Berini S, Hamilton LE, Naddaf E, Wieben E, Aleff RA, Martens K, Gruber A, Engel AG, Pfeffer G, Milone M.

Front Neurol. 2018 Mar 19;9:147. doi: 10.3389/fneur.2018.00147. eCollection 2018.

8.

Genetic basis and phenotypic features of congenital myasthenic syndromes.

Engel AG.

Handb Clin Neurol. 2018;148:565-589. doi: 10.1016/B978-0-444-64076-5.00037-5. Review.

PMID:
29478601
9.

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. doi: 10.1016/j.nmd.2017.11.013. Epub 2017 Nov 28. Erratum in: Neuromuscul Disord. 2018 Oct;28(10):896.

10.

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.

Shen XM, Brengman JM, Shen S, Durmus H, Preethish-Kumar V, Yuceyar N, Vengalil S, Nalini A, Deymeer F, Sine SM, Engel AG.

JCI Insight. 2018 Jan 25;3(2). pii: 97826. doi: 10.1172/jci.insight.97826. eCollection 2018 Jan 25.

11.

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. doi: 10.1111/nyas.13539. Epub 2018 Jan 21. Review.

12.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Yiş U, Becker K, Kurul SH, Uyanik G, Bayram E, Haliloğlu G, Polat Aİ, Ayanoğlu M, Okur D, Tosun AF, Serdaroğlu G, Yilmaz S, Topaloğlu H, Anlar B, Cirak S, Engel AG.

J Child Neurol. 2017 Jul;32(8):759-765. doi: 10.1177/0883073817705252. Epub 2017 May 3.

13.

Congenital myopathy associated with the triadin knockout syndrome.

Engel AG, Redhage KR, Tester DJ, Ackerman MJ, Selcen D.

Neurology. 2017 Mar 21;88(12):1153-1156. doi: 10.1212/WNL.0000000000003745. Epub 2017 Feb 15.

14.

Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.

Shen XM, Scola RH, Lorenzoni PJ, Kay CS, Werneck LC, Brengman J, Selcen D, Engel AG.

Ann Clin Transl Neurol. 2017 Jan 16;4(2):130-138. doi: 10.1002/acn3.387. eCollection 2017 Feb. Erratum in: Ann Clin Transl Neurol. 2017 May 08;4(5):356.

15.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T, Mimouni-Bloch A, Halevy A, Cohen R, Sagie L, Argov Z, Rabie M, Spiegel R, Chervinsky I, Orenstein N, Engel AG, Nevo Y.

Neuromuscul Disord. 2017 Feb;27(2):136-140. doi: 10.1016/j.nmd.2016.11.014. Epub 2016 Nov 24.

16.

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.

Engel AG, Selcen D, Shen XM, Milone M, Harper CM.

Neurol Genet. 2016 Sep 8;2(5):e105. doi: 10.1212/NXG.0000000000000105. eCollection 2016 Oct.

17.

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.

Neurology. 2016 Oct 4;87(14):1442-1448. Epub 2016 Sep 2.

18.

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.

Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG.

Hum Mutat. 2016 Oct;37(10):1051-9. doi: 10.1002/humu.23043. Epub 2016 Aug 21.

19.

Microvascular alterations and the role of complement in dermatomyositis.

Lahoria R, Selcen D, Engel AG.

Brain. 2016 Jul;139(Pt 7):1891-903. doi: 10.1093/brain/aww122. Epub 2016 May 16.

PMID:
27190020
20.

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.

Shibata A, Okuno T, Rahman MA, Azuma Y, Takeda J, Masuda A, Selcen D, Engel AG, Ohno K.

J Hum Genet. 2016 Jul;61(7):633-40. doi: 10.1038/jhg.2016.23. Epub 2016 Mar 24.

PMID:
27009626
21.

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.

Muscle Nerve. 2016 Jun;53(6):984-8. doi: 10.1002/mus.25054. Epub 2016 Apr 25.

PMID:
26802438
22.

Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.

Shen XM, Brengman J, Neubauer D, Sine SM, Engel AG.

J Biol Chem. 2016 Feb 12;291(7):3291-301. doi: 10.1074/jbc.M115.683995. Epub 2015 Dec 23.

23.

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM Jr, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM Jr, Hehir MK, Hobson-Webb LD, Howard JF Jr, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI.

Muscle Nerve. 2016 Feb;53(2):165-8. doi: 10.1002/mus.25009. Epub 2015 Dec 21. No abstract available.

PMID:
26662952
24.

Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling.

Otsuka K, Ito M, Ohkawara B, Masuda A, Kawakami Y, Sahashi K, Nishida H, Mabuchi N, Takano A, Engel AG, Ohno K.

Sci Rep. 2015 Sep 10;5:13928. doi: 10.1038/srep13928.

25.

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.

Rahman MA, Azuma Y, Nasrin F, Takeda J, Nazim M, Bin Ahsan K, Masuda A, Engel AG, Ohno K.

Sci Rep. 2015 Aug 18;5:13208. doi: 10.1038/srep13208.

26.

Reply.

Kassardjian CD, Sorenson EJ, Engel AG.

Muscle Nerve. 2015 Dec;52(6):1141-2. doi: 10.1002/mus.24790. Epub 2015 Sep 10. No abstract available.

PMID:
26239747
27.

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. doi: 10.1001/jamaneurol.2015.0853.

28.

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

Engel AG, Shen XM, Selcen D, Sine SM.

Lancet Neurol. 2015 May;14(5):461. doi: 10.1016/S1474-4422(15)00010-1. Epub 2015 Mar 26. No abstract available.

PMID:
25895926
29.

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

Engel AG, Shen XM, Selcen D, Sine SM.

Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. Review. Erratum in: Lancet Neurol. 2015 May;14(5):461.

30.

Electromyographic findings in 37 patients with adult-onset acid maltase deficiency.

Kassardjian CD, Engel AG, Sorenson EJ.

Muscle Nerve. 2015 May;51(5):759-61. doi: 10.1002/mus.24620. Epub 2015 Mar 31.

PMID:
25703805
31.

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.

Shen XM, Selcen D, Brengman J, Engel AG.

Neurology. 2014 Dec 9;83(24):2247-55. doi: 10.1212/WNL.0000000000001079. Epub 2014 Nov 7.

32.

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A.

Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31.

33.

DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.

Selcen D, Shen XM, Brengman J, Li Y, Stans AA, Wieben E, Engel AG.

Neurology. 2014 May 20;82(20):1822-30. doi: 10.1212/WNL.0000000000000435. Epub 2014 Apr 23.

34.

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.

Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.

35.

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K.

Hum Mol Genet. 2014 Apr 1;23(7):1856-68. doi: 10.1093/hmg/ddt578. Epub 2013 Nov 13.

36.

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Maggi L, Brugnoni R, Scaioli V, Winden TL, Morandi L, Engel AG, Mantegazza R, Bernasconi P.

J Neurol. 2013 Oct 12. [Epub ahead of print] No abstract available.

37.

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.

Rahman MA, Masuda A, Ohe K, Ito M, Hutchinson DO, Mayeda A, Engel AG, Ohno K.

Sci Rep. 2013 Oct 14;3:2931. doi: 10.1038/srep02931.

38.

Inclusion-body myositis presenting with facial diplegia.

Ghosh PS, Laughlin RS, Engel AG.

Muscle Nerve. 2014 Feb;49(2):287-9. doi: 10.1002/mus.24060. Epub 2013 Dec 18.

PMID:
24038039
39.

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A.

Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963.

40.

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

Selcen D, Shen XM, Milone M, Brengman J, Ohno K, Deymeer F, Finkel R, Rowin J, Engel AG.

Neurology. 2013 Jul 23;81(4):370-8. doi: 10.1212/WNL.0b013e31829c5e9c. Epub 2013 Jun 21.

41.

Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy.

Ghosh PS, Swift D, Engel AG.

Neurology. 2013 Jun 4;80(23):e248-9. doi: 10.1212/WNL.0b013e318295d6f4. No abstract available.

42.

Why does acetylcholine exacerbate myasthenia caused by anti-MuSK antibodies?

Engel AG.

J Physiol. 2013 May 15;591(10):2377. doi: 10.1113/jphysiol.2013.254599. No abstract available.

43.

New horizons for congenital myasthenic syndromes.

Engel AG, Shen XM, Selcen D, Sine S.

Ann N Y Acad Sci. 2012 Dec;1275:54-62. doi: 10.1111/j.1749-6632.2012.06803.x. Review. Erratum in: Ann N Y Acad Sci. 2013 Apr;1283:103.

44.

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

Liewluck T, Tracy JA, Sorenson EJ, Engel AG.

Neuromuscul Disord. 2013 Feb;23(2):133-8. doi: 10.1016/j.nmd.2012.09.010. Epub 2012 Nov 9. Review.

PMID:
23142638
45.

Myofibrillar Myopathy.

Selcen D, Engel AG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Jan 28 [updated 2012 Oct 29].

46.

Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis.

Ohno K, Ito M, Kawakami Y, Krejci E, Engel AG.

Chem Biol Interact. 2013 Mar 25;203(1):335-40. doi: 10.1016/j.cbi.2012.08.020. Epub 2012 Sep 8.

47.

Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.

Chan SH, Wong VC, Engel AG.

Pediatr Neurol. 2012 Aug;47(2):137-40. doi: 10.1016/j.pediatrneurol.2012.04.022.

48.

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.

Shen XM, Brengman JM, Sine SM, Engel AG.

J Clin Invest. 2012 Jul;122(7):2613-21. doi: 10.1172/JCI63415. Epub 2012 Jun 25.

49.

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.

Shen XM, Brengman JM, Edvardson S, Sine SM, Engel AG.

Neurology. 2012 Jul 31;79(5):449-54. doi: 10.1212/WNL.0b013e31825b5bda. Epub 2012 May 16.

50.

Muscle restricted vasculitis causing dropped head syndrome: a case report and review of the literature.

Nielsen AA, Smith BE, Engel AG, Bosch EP.

J Clin Neuromuscul Dis. 2012 Mar;13(3):117-21. doi: 10.1097/CND.0b013e3182461992. Review.

PMID:
22538306

Supplemental Content

Loading ...
Support Center