Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 75

1.

Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.

Shen XM, Milone M, Wang HL, Banwell B, Selcen D, Sine SM, Engel AG.

Ann Clin Transl Neurol. 2019 Sep 27. doi: 10.1002/acn3.50902. [Epub ahead of print]

2.

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.

Neuromuscul Disord. 2019 Aug;29(8):614-617. doi: 10.1016/j.nmd.2019.07.001. Epub 2019 Jul 5.

PMID:
31378432
3.

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Olivier PA, De Paepe B, Aronica E, Berfelo F, Colman R, Amato A, Dimitri D, Gallardo E, Gherardi R, Goebel HH, Hilton-Jones D, Hofer M, Holton J, Schrøder HD, Selcen D, Stenzel W, de Visser M, De Bleecker JL.

Neurology. 2019 Aug 27;93(9):e889-e894. doi: 10.1212/WNL.0000000000008005. Epub 2019 Jul 29.

PMID:
31358616
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.

Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype.

Conboy E, Selcen D, Brodsky M, Gavrilova R, Ho ML.

Semin Pediatr Neurol. 2018 Jul;26:16-20. doi: 10.1016/j.spen.2018.04.003.

PMID:
29961508
6.

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.

7.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Blackburn PR, Selcen D, Gass JM, Jackson JL, Macklin S, Cousin MA, Boczek NJ, Klee EW, Dimberg EL, Kennelly KD, Atwal PS.

Mol Genet Genomic Med. 2017 Mar 30;5(3):295-302. doi: 10.1002/mgg3.280. eCollection 2017 May. Erratum in: Mol Genet Genomic Med. 2018 May;6(3):469.

8.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN.

Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743.

9.

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

Gass J, Blackburn P, Jackson J, Harris K, Selcen D, Dimberg E, Atwal P.

J Clin Neuromuscul Dis. 2017 Mar;18(3):152-156. doi: 10.1097/CND.0000000000000164.

10.

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.

11.

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.

12.

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Karaoglu P, Quizon N, Pergande M, Wang H, Polat AI, Ersen A, Özer E, Willkomm L, Hiz Kurul S, Heredia R, Yis U, Selcen D, Çirak S.

Brain Dev. 2017 Apr;39(4):361-364. doi: 10.1016/j.braindev.2016.11.002. Epub 2016 Nov 19.

PMID:
27876398
13.

Eosinophilic fasciitis with subjacent myositis.

Whitlock JB, Dimberg EL, Selcen D, Rubin DI.

Muscle Nerve. 2017 Sep;56(3):525-529. doi: 10.1002/mus.25492. Epub 2017 Mar 27.

PMID:
27875630
14.

Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Blackburn PR, Selcen D, Jackson JL, Guthrie KJ, Cousin MA, Boczek NJ, Clift KE, Klee EW, Dimberg EL, Atwal PS.

Muscle Nerve. 2017 May;55(5):E19-E21. doi: 10.1002/mus.25471. Epub 2017 Feb 23. No abstract available.

PMID:
27862037
15.

Poster 465 Bilateral Hand Weakness and Atrophy in a Teenager: A Case Report.

Fredericks WH, Bradenburg J, Litchy WM, Selcen D, Rabatin AE.

PM R. 2016 Sep;8(9S):S312. doi: 10.1016/j.pmrj.2016.07.386. Epub 2016 Sep 24. No abstract available.

PMID:
27673211
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.

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

Brand P, Dyck PJ, Liu J, Berini S, Selcen D, Milone M.

Neuromuscul Disord. 2016 Aug;26(8):511-5. doi: 10.1016/j.nmd.2016.05.012. Epub 2016 May 24.

PMID:
27282841
18.

Pediatric Nerve Biopsy Diagnostic and Treatment Utility in Tertiary Care Referral.

Ida CM, Dyck PJ, Dyck PJ, Engelstad JK, Wang W, Selcen D, Bodensteiner JB, Mauermann ML, Klein CJ.

Pediatr Neurol. 2016 May;58:3-11. doi: 10.1016/j.pediatrneurol.2016.01.021. Epub 2016 Feb 5.

PMID:
27268757
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.

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
22.

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.

23.

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.

Henry JM, Chahin N, Shiloh-Malawsky Y, Fan Z, Selcen D.

J Neurol. 2015 Jun;262(6):1587-9. doi: 10.1007/s00415-015-7775-7. Epub 2015 May 23. No abstract available.

PMID:
26001911
24.

Severe congenital actin related myopathy with myofibrillar myopathy features.

Selcen D.

Neuromuscul Disord. 2015 Jun;25(6):488-92. doi: 10.1016/j.nmd.2015.04.002. Epub 2015 Apr 9.

PMID:
25913210
25.

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
26.

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.

27.

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands.

De Bleecker JL, De Paepe B, Aronica E, de Visser M; ENMC Myositis Muscle Biopsy Study Group, Amato A, Aronica E, Benveniste O, De Bleecker J, de Boer O, De Paepe B, de Visser M, Dimachkie M, Gherardi R, Goebel HH, Hilton-Jones D, Holton J, Lundberg IE, Mammen A, Mastaglia F, Nishino I, Rushing E, Schroder HD, Selcen D, Stenzel W.

Neuromuscul Disord. 2015 Mar;25(3):268-72. doi: 10.1016/j.nmd.2014.12.001. Epub 2014 Dec 10. No abstract available.

PMID:
25572016
28.

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.

29.

Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, Wicklund M, Barohn RJ, Ensrud E, Griggs RC, Gronseth G, Amato AA; Guideline Development Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Neurology. 2014 Oct 14;83(16):1453-63. doi: 10.1212/WNL.0000000000000892.

30.

Safety and yield of muscle biopsy in pediatric patients in the modern era.

Gibreel WO, Selcen D, Zeidan MM, Ishitani MB, Moir CR, Zarroug AE.

J Pediatr Surg. 2014 Sep;49(9):1429-32. doi: 10.1016/j.jpedsurg.2014.02.079. Epub 2014 Feb 26.

PMID:
25148753
31.

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.

32.

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

Ong RW, AlSaman A, Selcen D, Arabshahi A, Yau KS, Ravenscroft G, Duff RM, Atkinson V, Allcock RJ, Laing NG.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1058-60. doi: 10.1136/jnnp-2014-307608. Epub 2014 Mar 7. No abstract available.

PMID:
24610938
33.

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.

34.

Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures.

Segura LG, Lorenz JD, Weingarten TN, Scavonetto F, Bojanić K, Selcen D, Sprung J.

Paediatr Anaesth. 2013 Sep;23(9):855-64. doi: 10.1111/pan.12248. Epub 2013 Aug 6.

PMID:
23919455
35.

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.

36.

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P.

J Med Genet. 2013 Jul;50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18.

PMID:
23687351
37.

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.

38.

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].

39.

BAG3 mutations: another cause of giant axonal neuropathy.

Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x.

PMID:
22734908
40.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Selcen D, Bromberg MB, Chin SS, Engel AG.

Neurology. 2011 Nov 29;77(22):1951-9. doi: 10.1212/WNL.0b013e31823a0ebe. Epub 2011 Nov 16.

41.

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

Liewluck T, Selcen D, Engel AG.

Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176. Epub 2011 Sep 23.

42.

Myofibrillar myopathies.

Selcen D, Engel AG.

Handb Clin Neurol. 2011;101:143-54. doi: 10.1016/B978-0-08-045031-5.00011-6. Review.

PMID:
21496631
43.

A 49-year-old woman with progressive shortness of breath.

Amato AA, Leep Hunderfund AN, Selcen D, Keegan BM.

Neurology. 2011 Mar 1;76(9):830-6. doi: 10.1212/WNL.0b013e31820e7c0d. No abstract available.

PMID:
21357835
44.

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.

Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D.

Ann Neurol. 2011 May;69(5):866-71. doi: 10.1002/ana.22331. Epub 2011 Feb 18.

45.

Myasthenic syndrome caused by plectinopathy.

Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG.

Neurology. 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd.

46.

Myofibrillar myopathies.

Selcen D.

Neuromuscul Disord. 2011 Mar;21(3):161-71. doi: 10.1016/j.nmd.2010.12.007. Epub 2011 Jan 20. Review.

47.

Myofibrillar myopathies.

Selcen D.

Curr Opin Neurol. 2010 Oct;23(5):477-81. doi: 10.1097/WCO.0b013e32833d38b0. Review.

PMID:
20664348
48.

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.

Dunand M, Lobrinus JA, Jeannet PY, Behin A, Claeys KG, Selcen D, Kuntzer T.

Neuromuscul Disord. 2009 Nov;19(11):802. doi: 10.1016/j.nmd.2009.07.013. Epub 2009 Aug 28. No abstract available.

PMID:
19716701
49.

What have we learned from the congenital myasthenic syndromes.

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

J Mol Neurosci. 2010 Jan;40(1-2):143-53. doi: 10.1007/s12031-009-9229-0. Epub 2009 Aug 18. Review.

50.

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.

Neurology. 2009 Jul 21;73(3):228-35. doi: 10.1212/WNL.0b013e3181ae7cbc.

Supplemental Content

Loading ...
Support Center