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Items: 1 to 20 of 30

1.

Survival patterns and cancer determinants in families with myotonic dystrophy type 1.

Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochm├╝ller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM.

Eur J Neurol. 2018 Jul 27. doi: 10.1111/ene.13763. [Epub ahead of print]

PMID:
30051542
2.

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.

3.

Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.

Mul K, Heatwole C, Eichinger K, Dilek N, Martens WB, Van Engelen BGM, Tawil R, Statland JM.

Muscle Nerve. 2018 Aug;58(2):213-218. doi: 10.1002/mus.26127. Epub 2018 Apr 17.

PMID:
29543984
4.

Facioscapulohumeral muscular dystrophy functional composite outcome measure.

Eichinger K, Heatwole C, Iyadurai S, King W, Baker L, Heininger S, Bartlett A, Dilek N, Martens WB, Mcdermott M, Kissel JT, Tawil R, Statland JM.

Muscle Nerve. 2018 Jan 30. doi: 10.1002/mus.26088. [Epub ahead of print]

PMID:
29381807
5.

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

Hilbert JE, Barohn RJ, Clemens PR, Luebbe EA, Martens WB, McDermott MP, Parkhill AL, Tawil R, Thornton CA, Moxley RT 3rd; National Registry Scientific Advisory Committee/Investigators.

Neurology. 2017 Sep 26;89(13):1348-1354. doi: 10.1212/WNL.0000000000004420. Epub 2017 Aug 30.

6.

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.

PMID:
28450193
7.

Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy.

Gadalla SM, Hilbert JE, Martens WB, Givens S, Moxley RT 3rd, Greene MH.

Eur J Neurol. 2017 May;24(5):713-718. doi: 10.1111/ene.13276. Epub 2017 Mar 20.

8.

Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy.

Pasternak A, Sideridis G, Fragala-Pinkham M, Glanzman AM, Montes J, Dunaway S, Salazar R, Quigley J, Pandya S, O'Riley S, Greenwood J, Chiriboga C, Finkel R, Tennekoon G, Martens WB, McDermott MP, Fournier HS, Madabusi L, Harrington T, Cruz RE, LaMarca NM, Videon NM, Vivo DC, Darras BT; Muscle Study Group (MSG) and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCRN).

Muscle Nerve. 2016 Dec;54(6):1097-1107. doi: 10.1002/mus.25164. Epub 2016 Oct 6.

PMID:
27121348
9.

Electrical impedance myography in facioscapulohumeral muscular dystrophy.

Statland JM, Heatwole C, Eichinger K, Dilek N, Martens WB, Tawil R.

Muscle Nerve. 2016 Oct;54(4):696-701. doi: 10.1002/mus.25065. Epub 2016 May 25.

10.

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

Montes J, Glanzman AM, Mazzone ES, Martens WB, Dunaway S, Pasternak A, Riley SO, Quigley J, Pandya S, De Vivo DC, Kaufmann P, Chiriboga CA, Finkel RS, Tennekoon GI, Darras BT, Pane M, Mercuri E, Mcdermott MP; Pediatric Neuromuscular Clinical Research Network, Muscle Study Group, SMA Europe.

Muscle Nerve. 2015 Dec;52(6):942-7. doi: 10.1002/mus.24670. Epub 2015 Oct 10.

PMID:
25846132
11.

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.

12.

Diagnostic odyssey of patients with myotonic dystrophy.

Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd.

J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27.

13.

SMA-MAP: a plasma protein panel for spinal muscular atrophy.

Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C; Biomarkers for Spinal Muscular Atrophy Study Group, Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC; Pediatric Neuromuscular Clinical Research Network, Walker MG, Chen KS.

PLoS One. 2013;8(4):e60113. doi: 10.1371/journal.pone.0060113. Epub 2013 Apr 2.

14.

Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy.

Statland JM, McDermott MP, Heatwole C, Martens WB, Pandya S, van der Kooi EL, Kissel JT, Wagner KR, Tawil R.

Neuromuscul Disord. 2013 Apr;23(4):306-12. doi: 10.1016/j.nmd.2013.01.008. Epub 2013 Feb 11.

15.

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.

16.

A quantitative measure of handgrip myotonia in non-dystrophic myotonia.

Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium.

Muscle Nerve. 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402.

17.

Correlates of tumor development in patients with myotonic dystrophy.

Das M, Moxley RT 3rd, Hilbert JE, Martens WB, Letren L, Greene MH, Gadalla SM.

J Neurol. 2012 Oct;259(10):2161-6. doi: 10.1007/s00415-012-6476-8. Epub 2012 May 23.

18.

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; Registry Scientific Advisory Committee.

Contemp Clin Trials. 2012 Mar;33(2):302-11. doi: 10.1016/j.cct.2011.11.016. Epub 2011 Nov 26.

19.

Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND).

Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger J, Riley S, Quigley J, Dunaway S, O'Hagen J, Deng L, Chung WK, Tawil R, Darras BT, Yang M, Sproule D, De Vivo DC, Kaufmann P, Finkel RS; Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR); Muscle Study Group (MSG).

Pediatr Phys Ther. 2011 Winter;23(4):322-6. doi: 10.1097/PEP.0b013e3182351f04.

PMID:
22090068
20.

Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.

Glanzman AM, O'Hagen JM, McDermott MP, Martens WB, Flickinger J, Riley S, Quigley J, Montes J, Dunaway S, Deng L, Chung WK, Tawil R, Darras BT, De Vivo DC, Kaufmann P, Finkel RS; Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR); Muscle Study Group (MSG).

J Child Neurol. 2011 Dec;26(12):1499-507. doi: 10.1177/0883073811420294. Epub 2011 Sep 21.

PMID:
21940700

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