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Items: 1 to 50 of 90

1.

Dollars and antisense for Duchenne muscular dystrophy: Eteplirsen and dystrophin.

Zingariello CD, Kang PB.

Neurology. 2018 May 11. pii: 10.1212/WNL.0000000000005669. doi: 10.1212/WNL.0000000000005669. [Epub ahead of print] No abstract available.

PMID:
29752302
2.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

3.

Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence.

Karakis I, Georghiou S, Jones HR, Darras BT, Kang PB.

Pediatr Neurol. 2018 Apr;81:14-18. doi: 10.1016/j.pediatrneurol.2018.01.003. Epub 2018 Jan 31.

PMID:
29506771
4.

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels CC, Cho KA, Pacak CA, Draper I, Kang PB.

Hum Mol Genet. 2017 Aug 1;26(15):2984-3000. doi: 10.1093/hmg/ddx189.

PMID:
28498977
5.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

6.

The role of thymectomy in the treatment of juvenile myasthenia gravis: a systematic review.

Madenci AL, Li GZ, Weil BR, Zurakowski D, Kang PB, Weldon CB.

Pediatr Surg Int. 2017 Jun;33(6):683-694. doi: 10.1007/s00383-017-4086-3. Epub 2017 Apr 11. Review.

PMID:
28401300
7.

Electrophysiologic features of ulnar neuropathy in childhood and adolescence.

Karakis I, Liew W, Fournier HS, Jones HR Jr, Darras BT, Kang PB.

Clin Neurophysiol. 2017 May;128(5):751-755. doi: 10.1016/j.clinph.2017.01.024. Epub 2017 Feb 20.

PMID:
28319875
8.

Neuropathic and Myopathic Pain.

Rodrigues AC, Kang PB.

Semin Pediatr Neurol. 2016 Aug;23(3):242-247. doi: 10.1016/j.spen.2016.10.008. Epub 2016 Oct 14. Review.

PMID:
27989332
9.

Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 AAP/CNS Workforce Survey.

Gilbert DL, Horn PS, Kang PB, Mintz M, Joshi SM, Ruch-Ross H, Bale JF Jr.

Pediatr Neurol. 2017 Jan;66:89-95. doi: 10.1016/j.pediatrneurol.2016.08.018. Epub 2016 Oct 3.

PMID:
27955837
10.

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.

Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS.

J Clin Invest. 2016 Nov 1;126(11):4219-4236. doi: 10.1172/JCI85647. Epub 2016 Oct 17.

11.

Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents.

Liew WK, Pacak CA, Visyak N, Darras BT, Bousvaros A, Kang PB.

J Pediatr. 2016 Nov;178:227-232. doi: 10.1016/j.jpeds.2016.07.040. Epub 2016 Aug 24.

PMID:
27567409
12.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB.

J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.

13.

Electrophysiologic features of fibular neuropathy in childhood and adolescence.

Karakis I, Khoshnoodi M, Liew W, Nguyen ES, Jones HR, Darras BT, Kang PB.

Muscle Nerve. 2017 May;55(5):693-697. doi: 10.1002/mus.25403. Epub 2017 Jan 24.

PMID:
27615598
14.

Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.

Su X, Kang PB, Russell JA, Simmons Z.

Muscle Nerve. 2016 Dec;54(6):997-1006. doi: 10.1002/mus.25400. Epub 2016 Oct 1. Review.

PMID:
27615030
15.

The child neurology clinical workforce in 2015: Report of the AAP/CNS Joint Taskforce.

Kang PB, Bale JF Jr, Mintz M, Joshi SM, Gilbert DL, Radabaugh C, Ruch-Ross H; Section on Neurology Executive Committee of the American Academy of Pediatrics, and the Board of Directors of the Child Neurology Society.

Neurology. 2016 Sep 27;87(13):1384-92. doi: 10.1212/WNL.0000000000003147. Epub 2016 Aug 26.

16.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB.

Muscle Nerve. 2016 Oct;54(4):690-5. doi: 10.1002/mus.25094. Epub 2016 Aug 24.

17.

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.

Connolly AM, Florence JM, Zaidman CM, Golumbek PT, Mendell JR, Flanigan KM, Karachunski PI, Day JW, McDonald CM, Darras BT, Kang PB, Siener CA, Gadeken RK, Anand P, Schierbecker JR, Malkus EC, Lowes LP, Alfano LN, Johnson L, Nicorici A, Kelecic JM, Quigley J, Pasternak AE, Miller JP; MDA-DMD Clinical Research Network.

Muscle Nerve. 2016 Oct;54(4):681-9. doi: 10.1002/mus.25089. Epub 2016 May 10.

PMID:
26930423
18.

Author response.

Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, Christi C, North K.

Neurology. 2015 Oct 20;85(16):1432-3. No abstract available.

PMID:
26771040
19.

PLIN2 inhibits insulin-induced glucose uptake in myoblasts through the activation of the NLRP3 inflammasome.

Cho KA, Kang PB.

Int J Mol Med. 2015 Sep;36(3):839-44. doi: 10.3892/ijmm.2015.2276. Epub 2015 Jul 8.

PMID:
26166692
20.

Advances in Muscular Dystrophies.

Kang PB, Griggs RC.

JAMA Neurol. 2015 Jul;72(7):741-2. doi: 10.1001/jamaneurol.2014.4621. Review. No abstract available.

PMID:
25985443
21.

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: 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.

Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC; Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Neurology. 2015 Mar 31;84(13):1369-78. doi: 10.1212/WNL.0000000000001416.

22.

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC.

J Clin Endocrinol Metab. 2015 Mar;100(3):E473-7. doi: 10.1210/jc.2014-4107. Epub 2015 Jan 5.

23.

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.

Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD, Jones PL.

Clin Epigenetics. 2014 Oct 29;6(1):23. doi: 10.1186/1868-7083-6-23. eCollection 2014.

24.

Silencing of drpr leads to muscle and brain degeneration in adult Drosophila.

Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Kang PB.

Am J Pathol. 2014 Oct;184(10):2653-61. doi: 10.1016/j.ajpath.2014.06.018. Epub 2014 Aug 8.

25.

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC.

Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.

26.

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM; MDA DMD Clinical Research Network.

Muscle Nerve. 2015 Apr;51(4):522-32. doi: 10.1002/mus.24346. Epub 2015 Feb 11.

27.

Reply: To PMID 23893312.

Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, De Vivo DC; Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.

Muscle Nerve. 2014 Sep;50(3):458-9. doi: 10.1002/mus.24317. Epub 2014 Aug 5. No abstract available.

PMID:
24935909
28.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC.

Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.

29.

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.

Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, Kunkel LM.

J Clin Invest. 2014 Jun;124(6):2651-67. doi: 10.1172/JCI73579. Epub 2014 May 1.

30.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

31.

Comparison of plasmapheresis and intravenous immunoglobulin as maintenance therapies for juvenile myasthenia gravis.

Liew WK, Powell CA, Sloan SR, Shamberger RC, Weldon CB, Darras BT, Kang PB.

JAMA Neurol. 2014 May;71(5):575-80.

PMID:
24590389
32.

Referral and diagnostic trends in pediatric electromyography in the molecular era.

Karakis I, Liew W, Darras BT, Jones HR, Kang PB.

Muscle Nerve. 2014 Aug;50(2):244-9. doi: 10.1002/mus.24152. Epub 2014 May 5.

PMID:
24375325
33.

The new frontier of genetically targeted therapies for muscle disease.

Kang PB.

Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1698-702. doi: 10.1212/01.CON.0000440666.79792.84.

PMID:
24305454
34.

Ethical issues in neurogenetic disorders.

Kang PB.

Handb Clin Neurol. 2013;118:265-76. doi: 10.1016/B978-0-444-53501-6.00022-6. Review.

PMID:
24182384
35.

Update on juvenile myasthenia gravis.

Liew WK, Kang PB.

Curr Opin Pediatr. 2013 Dec;25(6):694-700. doi: 10.1097/MOP.0b013e328365ad16. Review.

PMID:
24141560
36.

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB.

Neuromuscul Disord. 2013 Dec;23(12):975-80. doi: 10.1016/j.nmd.2013.08.009. Epub 2013 Aug 31.

37.

Beyond the gowers sign: measuring outcomes in Duchenne muscular dystrophy.

Kang PB.

Muscle Nerve. 2013 Sep;48(3):315-7. doi: 10.1002/mus.23984. No abstract available.

PMID:
24038058
38.

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Kang PB.

FEBS Lett. 2013 Sep 17;587(18):2952-7. doi: 10.1016/j.febslet.2013.08.002. Epub 2013 Aug 15.

39.

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC; Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.

Muscle Nerve. 2014 May;49(5):636-44. doi: 10.1002/mus.23967.

40.

MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.

Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PB, Kunkel LM.

Cell Death Differ. 2013 Sep;20(9):1194-208. doi: 10.1038/cdd.2013.62. Epub 2013 Jun 14.

41.

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.

Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BT, Kang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M; MDA DMD Clinical Research Network.

Neuromuscul Disord. 2013 Jul;23(7):529-39. doi: 10.1016/j.nmd.2013.04.005. Epub 2013 May 28.

42.

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.

Liew WK, Kang PB.

Ther Adv Neurol Disord. 2013 May;6(3):147-60. doi: 10.1177/1756285612472386.

43.

Congenital Fiber-Type Disproportion.

DeChene ET, Kang PB, Beggs AH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Jan 12 [updated 2013 Apr 11].

44.

Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities.

Karakis I, Gregas M, Darras BT, Kang PB, Jones HR.

Muscle Nerve. 2013 Apr;47(4):488-92. doi: 10.1002/mus.23622. Epub 2013 Mar 5.

PMID:
23460299
45.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.

46.

Update on the genetics of limb girdle muscular dystrophy.

Mitsuhashi S, Kang PB.

Semin Pediatr Neurol. 2012 Dec;19(4):211-8. doi: 10.1016/j.spen.2012.09.008. Review.

PMID:
23245554
47.

Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series.

McMillan HJ, Kang PB, Jones HR, Darras BT.

Neuromuscul Disord. 2013 Feb;23(2):103-11. doi: 10.1016/j.nmd.2012.09.008. Epub 2012 Nov 6. Review.

PMID:
23140945
48.

Prospective cohort study of spinal muscular atrophy types 2 and 3.

Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC; Muscle Study Group (MSG); Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR).

Neurology. 2012 Oct 30;79(18):1889-97. doi: 10.1212/WNL.0b013e318271f7e4. Epub 2012 Oct 17.

49.

The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years.

Shah DU, Darras BT, Markowitz JA, Jones HR Jr, Kang PB.

Pediatr Neurol. 2012 Aug;47(2):97-100. doi: 10.1016/j.pediatrneurol.2012.05.003.

PMID:
22759684
50.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.

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