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Items: 1 to 50 of 70

1.

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH.

Arch Dis Child. 2019 Sep 4. pii: archdischild-2019-317910. doi: 10.1136/archdischild-2019-317910. [Epub ahead of print]

PMID:
31484632
2.

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.

Hoffman EP, Schwartz BD, Mengle-Gaw LJ, Smith EC, Castro D, Mah JK, McDonald CM, Kuntz NL, Finkel RS, Guglieri M, Bushby K, Tulinius M, Nevo Y, Ryan MM, Webster R, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Siener C, Jaros M, Shale P, McCall JM, Nagaraju K, van den Anker J, Conklin LS, Cnaan A, Gordish-Dressman H, Damsker JM, Clemens PR; Cooperative International Neuromuscular Research Group.

Neurology. 2019 Sep 24;93(13):e1312-e1323. doi: 10.1212/WNL.0000000000008168. Epub 2019 Aug 26.

PMID:
31451516
3.

Pediatric cancer patients' treatment journey: Child, adolescent, and young adult cancer narratives.

Kuntz N, Anazodo A, Bowden V, Sender L, Morgan H.

J Pediatr Nurs. 2019 Jun 24;48:42-48. doi: 10.1016/j.pedn.2019.06.003. [Epub ahead of print]

PMID:
31247408
4.

Reply: "The Impact of 68Ga-PSMA PET/CT and PET/MRI on the Management of Prostate Cancer": "68Ga Scatter Correction to Eliminate Halo-Artifacts in PET Imaging".

Hoffmann MA, Wieler HJ, Baues C, Kuntz NJ, Richardsen I, Schreckenberger M.

Urology. 2019 Sep;131:262-263. doi: 10.1016/j.urology.2019.06.001. Epub 2019 Jun 11. No abstract available.

PMID:
31199969
5.

The Impact of 68Ga-PSMA PET/CT and PET/MRI on the Management of Prostate Cancer.

Hoffmann MA, Wieler HJ, Baues C, Kuntz NJ, Richardsen I, Schreckenberger M.

Urology. 2019 Aug;130:1-12. doi: 10.1016/j.urology.2019.04.004. Epub 2019 Apr 12. Review.

PMID:
30986486
6.

Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy.

Zelikovich AS, Quattrocelli M, Salamone IM, Kuntz NL, McNally EM.

Sci Rep. 2019 Apr 8;9(1):5770. doi: 10.1038/s41598-019-42203-z.

7.

The Impact of Harvesting Systems and Donor Characteristics on Viability of Nucleated Cells in Adipose Tissue: A First Step Towards a Manufacturing Process.

Papadopulos NA, Wigand S, Kuntz N, Piringer M, Machens HG, Kl├╝ter H, Bieback K, Karagianni M.

J Craniofac Surg. 2019 May/Jun;30(3):716-720. doi: 10.1097/SCS.0000000000005310.

PMID:
30817533
8.

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.

Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR; MDA DMD Clinical Research Network.

Muscle Nerve. 2019 Jun;59(6):650-657. doi: 10.1002/mus.26441. Epub 2019 Feb 23.

PMID:
30706490
9.

Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis.

Brooks ER, Deng F, Weese-Mayer DE, Kuntz NL, Langman CB.

Kidney Int Rep. 2018 Jul 29;3(6):1489-1496. doi: 10.1016/j.ekir.2018.07.019. eCollection 2018 Nov. No abstract available.

10.

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.

Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward LM, Ahmet A, Cornish MR, Clemens PR.

Pharmacol Res. 2018 Oct;136:140-150. doi: 10.1016/j.phrs.2018.09.007. Epub 2018 Sep 13.

11.

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep.

12.

Novel methods of imaging and analysis for the thermoregulatory sweat test.

Carroll MS, Reed DW, Kuntz NL, Weese-Mayer DE.

J Appl Physiol (1985). 2018 Sep 1;125(3):755-762. doi: 10.1152/japplphysiol.01086.2017. Epub 2018 Jun 7.

13.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.

14.

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J.

J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304.

15.

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.

16.

Natural history of infantile-onset spinal muscular atrophy.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators.

Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8.

17.

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S.

Muscle Nerve. 2018 Apr;57(4):550-560. doi: 10.1002/mus.26018. Epub 2017 Dec 22.

18.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

19.

Left Ventricular Assist Device Malfunctions: It Is More Than Just the Pump.

Kormos RL, McCall M, Althouse A, Lagazzi L, Schaub R, Kormos MA, Zaldonis JA, Sciortino C, Lockard K, Kuntz N, Dunn E, Teuteberg JJ.

Circulation. 2017 Oct 31;136(18):1714-1725. doi: 10.1161/CIRCULATIONAHA.117.027360. Epub 2017 Jul 3.

PMID:
28674109
20.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC.

Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24.

21.

International consensus guidance for management of myasthenia gravis: Executive summary.

Sanders DB, Wolfe GI, Benatar M, Evoli A, Gilhus NE, Illa I, Kuntz N, Massey JM, Melms A, Murai H, Nicolle M, Palace J, Richman DP, Verschuuren J, Narayanaswami P.

Neurology. 2016 Jul 26;87(4):419-25. doi: 10.1212/WNL.0000000000002790. Epub 2016 Jun 29. Review.

22.

Axonal Damage in Pediatric Multiple Sclerosis.

Kuntz NL.

Pediatr Neurol Briefs. 2015 May;29(5):34. doi: 10.15844/pedneurbriefs-29-5-1.

23.

Hereditary Neuropathy with Liability to Pressure Palsies.

Choi HW, Kuntz NL.

Pediatr Neurol Briefs. 2015 Nov;29(11):83. doi: 10.15844/pedneurbriefs-29-11-2.

24.

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.

25.

Evaluation of Novel Ball-Tip Holmium Laser Fiber: Impact on Ureteroscope Performance and Fragmentation Efficiency.

Shin RH, Lautz JM, Cabrera FJ, Shami CJ, Goldsmith ZG, Kuntz NJ, Kaplan AG, Neisius A, Simmons WN, Preminger GM, Lipkin ME.

J Endourol. 2016 Feb;30(2):189-94. doi: 10.1089/end.2015.0300. Epub 2015 Nov 18.

PMID:
26472696
26.

Balloon Dilation of the Ureter: A Contemporary Review of Outcomes and Complications.

Kuntz NJ, Neisius A, Tsivian M, Ghaffar M, Patel N, Ferrandino MN, Sur RL, Preminger GM, Lipkin ME.

J Urol. 2015 Aug;194(2):413-7. doi: 10.1016/j.juro.2015.02.2917. Epub 2015 Feb 26.

PMID:
25728906
27.

Delay in Diagnosis of Duchenne Muscular Dystrophy.

Rao VK, Kuntz NL.

Pediatr Neurol Briefs. 2015 Jan;29(1):5. doi: 10.15844/pedneurbriefs-29-1-4.

28.

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H, Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P.

Acta Neuropathol Commun. 2014 Apr 24;2:47. doi: 10.1186/2051-5960-2-47.

29.

Does body mass index impact the outcomes of tubeless percutaneous nephrolithotomy?

Kuntz NJ, Neisius A, Astroza GM, Tsivian M, Iqbal MW, Youssef R, Ferrandino MN, Preminger GM, Lipkin ME.

BJU Int. 2014 Sep;114(3):404-11. doi: 10.1111/bju.12538. Epub 2014 Feb 20.

30.

Cerebellar mutism in acute disseminating encephalomyelitis.

McAndrew S, Listernick R, Kuntz N.

Pediatr Neurol. 2014 May;50(5):511-4. doi: 10.1016/j.pediatrneurol.2014.01.020. Epub 2014 Jan 11.

PMID:
24656209
31.

Improving the lens design and performance of a contemporary electromagnetic shock wave lithotripter.

Neisius A, Smith NB, Sankin G, Kuntz NJ, Madden JF, Fovargue DE, Mitran S, Lipkin ME, Simmons WN, Preminger GM, Zhong P.

Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):E1167-75. doi: 10.1073/pnas.1319203111. Epub 2014 Mar 17.

32.

Report of a rare fistula between a Studer neobladder and external iliac artery.

Kuntz NJ, Inman BA.

Can Urol Assoc J. 2013 Sep-Oct;7(9-10):E645-7. doi: 10.5489/cuaj.402.

33.

Contemporary Management of Struvite Stones Using Combined Endourologic and Medical Treatment: Predictors of Unfavorable Clinical Outcome.

Iqbal MW, Youssef RF, Neisius A, Kuntz N, Hanna J, Ferrandino MN, Preminger GM, Lipkin ME.

J Endourol. 2016 Jul;30(7):771-7. doi: 10.1089/end.2013.0257. Epub 2013 Nov 19.

PMID:
24251429
34.

Digital tomosynthesis: a new technique for imaging nephrolithiasis. Specific organ doses and effective doses compared with renal stone protocol noncontrast computed tomography.

Neisius A, Astroza GM, Wang C, Nguyen G, Kuntz NJ, Januzis N, Ferrandino MN, Yoshizumi TT, Preminger GM, Lipkin ME.

Urology. 2014 Feb;83(2):282-7. doi: 10.1016/j.urology.2013.10.004. Epub 2013 Nov 16.

PMID:
24246323
35.

Quantitative MRI analysis in children with multiple sclerosis: a multicenter feasibility pilot study.

Chitnis T, Guttmann CR, Zaitsev A, Musallam A, Weinstock-Guttman B, Yeh A, Rodriguez M, Ness J, Gorman MP, Healy BC, Kuntz N, Chabas D, Strober JB, Waubant E, Krupp L, Pelletier D, Erickson B, Bergsland N, Zivadinov R; U.S. Network of Pediatric MS Centers of Excellence.

BMC Neurol. 2013 Nov 13;13:173. doi: 10.1186/1471-2377-13-173.

36.

Muscle specific kinase autoimmune myasthenia gravis in children: a case series.

Skjei KL, Lennon VA, Kuntz NL.

Neuromuscul Disord. 2013 Nov;23(11):874-82. doi: 10.1016/j.nmd.2013.07.010. Epub 2013 Aug 7.

PMID:
24012245
37.

Spasmodic muscle cramps and weakness as presenting symptoms in Wilson disease.

Rosen JM, Kuntz N, Melin-Aldana H, Bass LM.

Pediatrics. 2013 Oct;132(4):e1039-42. doi: 10.1542/peds.2012-2923. Epub 2013 Sep 2.

PMID:
23999958
38.

Radiation exposure in urology: a genitourinary catalogue for diagnostic imaging.

Neisius A, Wang AJ, Wang C, Nguyen G, Tsivian M, Kuntz NJ, Astroza GM, Lowry C, Toncheva G, Yoshizumi TT, Preminger GM, Ferrandino MN, Lipkin ME.

J Urol. 2013 Dec;190(6):2117-23. doi: 10.1016/j.juro.2013.06.013. Epub 2013 Jun 11.

PMID:
23764073
39.

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.

Gogliotti RG, Cardona H, Singh J, Bail S, Emery C, Kuntz N, Jorgensen M, Durens M, Xia B, Barlow C, Heier CR, Plasterer HL, Jacques V, Kiledjian M, Jarecki J, Rusche J, DiDonato CJ.

Hum Mol Genet. 2013 Oct 15;22(20):4084-101. doi: 10.1093/hmg/ddt258. Epub 2013 Jun 4.

40.

Diagnostic criteria for pediatric multiple sclerosis.

Rubin JP, Kuntz NL.

Curr Neurol Neurosci Rep. 2013 Jun;13(6):354. doi: 10.1007/s11910-013-0354-3.

PMID:
23591756
41.

Laboratory evaluation of pediatric autonomic disorders.

Kuntz NL, Patwari PP.

Semin Pediatr Neurol. 2013 Mar;20(1):35-43. doi: 10.1016/j.spen.2013.01.004. Review.

PMID:
23465773
42.

Antibody response to common viruses and human leukocyte antigen-DRB1 in pediatric multiple sclerosis.

Waubant E, Mowry EM, Krupp L, Chitnis T, Yeh EA, Kuntz N, Ness J, Belman A, Milazzo M, Gorman M, Weinstock-Guttman B, Rodriguez M, James JA.

Mult Scler. 2013 Jun;19(7):891-5. doi: 10.1177/1352458512469693. Epub 2012 Dec 11.

43.

Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial.

Escolar DM, Zimmerman A, Bertorini T, Clemens PR, Connolly AM, Mesa L, Gorni K, Kornberg A, Kolski H, Kuntz N, Nevo Y, Tesi-Rocha C, Nagaraju K, Rayavarapu S, Hache LP, Mayhew JE, Florence J, Hu F, Arrieta A, Henricson E, Leshner RT, Mah JK.

Neurology. 2012 Mar 20;78(12):904-13. doi: 10.1212/WNL.0b013e31824c46be. Epub 2012 Mar 7.

44.

Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.

Patwari PP, Stewart TM, Rand CM, Carroll MS, Kuntz NL, Kenny AS, Brogadir CD, Weese-Mayer DE.

Pediatr Res. 2012 Mar;71(3):280-5. doi: 10.1038/pr.2011.38. Epub 2012 Jan 25.

PMID:
22278185
45.

Unusual case of relapsing and remitting rash with progressive motor sensory neuropathy and spinal cord atrophy.

Blackburn JS, Kuntz NL, Grimason M, Wainwright MS.

J Child Neurol. 2012 Feb;27(2):225-8. doi: 10.1177/0883073811417872. Epub 2011 Sep 22.

PMID:
21940692
46.

Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy.

Zimmerman A, Clemens PR, Tesi-Rocha C, Connolly A, Iannaccone ST, Kuntz N, Arrieta A, Hache L, Henricson E, Hu F, Mayhew J, Escolar DM.

Muscle Nerve. 2011 Aug;44(2):170-3. doi: 10.1002/mus.22127. Epub 2011 Jun 14.

47.

Common viruses associated with lower pediatric multiple sclerosis risk.

Waubant E, Mowry EM, Krupp L, Chitnis T, Yeh EA, Kuntz N, Ness J, Chabas D, Strober J, McDonald J, Belman A, Milazzo M, Gorman M, Weinstock-Guttman B, Rodriguez M, Oksenberg JR, James JA; US Pediatric MS Network.

Neurology. 2011 Jun 7;76(23):1989-95. doi: 10.1212/WNL.0b013e31821e552a.

48.

Management of pediatric central nervous system demyelinating disorders: consensus of United States neurologists.

Waldman AT, Gorman MP, Rensel MR, Austin TE, Hertz DP, Kuntz NL; Network of Pediatric Multiple Sclerosis Centers of Excellence of National Multiple Sclerosis Society.

J Child Neurol. 2011 Jun;26(6):675-82. doi: 10.1177/0883073810395141. Epub 2011 Apr 25.

49.

Pediatric multiple sclerosis.

Chitnis T, Krupp L, Yeh A, Rubin J, Kuntz N, Strober JB, Chabas D, Weinstock-Guttmann B, Ness J, Rodriguez M, Waubant E.

Neurol Clin. 2011 May;29(2):481-505. doi: 10.1016/j.ncl.2011.01.004.

PMID:
21439455
50.

Neuronal voltage-gated potassium channel complex autoimmunity in children.

Dhamija R, Renaud DL, Pittock SJ, McKeon A, Lachance DH, Nickels KC, Wirrell EC, Kuntz NL, King MD, Lennon VA.

Pediatr Neurol. 2011 Apr;44(4):275-81. doi: 10.1016/j.pediatrneurol.2010.10.015.

PMID:
21397169

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