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Items: 1 to 50 of 102

1.

The Utility and Practice of Electrodiagnostic Testing in the Pediatric Population: An AANEM Consensus Statement.

Kang PB, McMillan HJ, Kuntz NL, Lehky TJ, Alter KE, Fitzpatrick KF, El Kosseifi C, Quijano-Roy S; Professional Practice Committee of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Muscle Nerve. 2019 Nov 14. doi: 10.1002/mus.26752. [Epub ahead of print]

PMID:
31724199
2.

The End of the Beginning: The Journey to Molecular Therapies for Spinal Muscular Atrophy.

Pacak CA, Kang PB.

Pediatr Neurol. 2019 Aug 6. pii: S0887-8994(19)30701-5. doi: 10.1016/j.pediatrneurol.2019.07.018. [Epub ahead of print] No abstract available.

PMID:
31481328
3.

Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.

Suzuki-Hatano S, Sriramvenugopal M, Ramanathan M, Soustek M, Byrne BJ, Cade WT, Kang PB, Pacak CA.

Int J Mol Sci. 2019 Jul 11;20(14). pii: E3416. doi: 10.3390/ijms20143416.

4.

Neurodevelopmental outcomes at 9-14 months gestational age after treatment of neonatal seizures due to brain injury.

Ghosh S, Cabassa Miskimen AC, Brady J, Robinson MA, Zou B, Weiss M, Kang PB.

Childs Nerv Syst. 2019 Sep;35(9):1571-1578. doi: 10.1007/s00381-019-04286-x. Epub 2019 Jul 5.

PMID:
31278442
5.

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.

Saha M, Rizzo SA, Ramanathan M, Hightower RM, Santostefano KE, Terada N, Finkel RS, Berg JS, Chahin N, Pacak CA, Wagner RE, Alexander MS, Draper I, Kang PB.

Hum Mol Genet. 2019 Jul 15;28(14):2365-2377. doi: 10.1093/hmg/ddz064.

PMID:
31267131
6.

Intravenous Immunoglobulin as a Therapeutic Option for Mycoplasma pneumoniae Encephalitis.

Daba M, Kang PB, Sladky J, Bidari SS, Lawrence RM, Ghosh S.

J Child Neurol. 2019 Oct;34(11):687-691. doi: 10.1177/0883073819854854. Epub 2019 Jun 11.

PMID:
31185782
7.

The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila.

Draper I, Saha M, Stonebreaker H, Salomon RN, Matin B, Kang PB.

FEBS Lett. 2019 Apr;593(7):680-696. doi: 10.1002/1873-3468.13348. Epub 2019 Mar 12.

PMID:
30802937
8.

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.

Suzuki-Hatano S, Saha M, Soustek MS, Kang PB, Byrne BJ, Cade WT, Pacak CA.

Mol Ther Methods Clin Dev. 2019 Jan 25;13:167-179. doi: 10.1016/j.omtm.2019.01.007. eCollection 2019 Jun 14.

9.

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB.

Mol Genet Genomic Med. 2019 Mar;7(3):e552. doi: 10.1002/mgg3.552. Epub 2019 Jan 28.

10.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB.

Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.

11.

Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II.

Smith G, Bell SK, Sladky JT, Kang PB, Albayram MS.

Clin Imaging. 2019 Jan - Feb;53:134-137. doi: 10.1016/j.clinimag.2018.09.017. Epub 2018 Oct 5.

PMID:
30340076
12.

AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.

Suzuki-Hatano S, Saha M, Rizzo SA, Witko RL, Gosiker BJ, Ramanathan M, Soustek MS, Jones MD, Kang PB, Byrne BJ, Cade WT, Pacak CA.

Hum Gene Ther. 2019 Feb;30(2):139-154. doi: 10.1089/hum.2018.020. Epub 2018 Oct 3.

PMID:
30070157
13.

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

Zingariello CD, Kang PB.

Neurology. 2018 Jun 12;90(24):1091-1092. doi: 10.1212/WNL.0000000000005669. Epub 2018 May 11. No abstract available.

PMID:
29752302
14.

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.

15.

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
16.

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.

17.

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.

18.

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
19.

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
20.

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
21.

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
22.

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.

23.

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
24.

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.

25.

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
26.

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
27.

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.

28.

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.

29.

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
30.

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
31.

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
32.

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
33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

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.

39.

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
40.

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.

41.

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.

42.

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.

43.

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
44.

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
45.

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
46.

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
47.

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
48.

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.

49.

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
50.

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.

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