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314 results

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Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: pestronk a. Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426. Hum Mutat. 2011. PMID: 21972111 Free PMC article.
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.
Escolar DM, Buyse G, Henricson E, Leshner R, Florence J, Mayhew J, Tesi-Rocha C, Gorni K, Pasquali L, Patel KM, McCarter R, Huang J, Mayhew T, Bertorini T, Carlo J, Connolly AM, Clemens PR, Goemans N, Iannaccone ST, Igarashi M, Nevo Y, Pestronk A, Subramony SH, Vedanarayanan VV, Wessel H; CINRG Group. Escolar DM, et al. Among authors: pestronk a. Ann Neurol. 2005 Jul;58(1):151-5. doi: 10.1002/ana.20523. Ann Neurol. 2005. PMID: 15984021 Clinical Trial.
An unusual pathologic feature associated with dermatomyositis.
Sampson JB, Chin SS, Clayton FC, Pestronk A, Swoboda KJ, Flanigan KM. Sampson JB, et al. Among authors: pestronk a. Neuromuscul Disord. 2006 Jun;16(6):391-3. doi: 10.1016/j.nmd.2006.03.013. Epub 2006 May 11. Neuromuscul Disord. 2006. PMID: 16697198
Limb-girdle muscular dystrophy in the United States.
Moore SA, Shilling CJ, Westra S, Wall C, Wicklund MP, Stolle C, Brown CA, Michele DE, Piccolo F, Winder TL, Stence A, Barresi R, King N, King W, Florence J, Campbell KP, Fenichel GM, Stedman HH, Kissel JT, Griggs RC, Pandya S, Mathews KD, Pestronk A, Serrano C, Darvish D, Mendell JR. Moore SA, et al. Among authors: pestronk a. J Neuropathol Exp Neurol. 2006 Oct;65(10):995-1003. doi: 10.1097/01.jnen.0000235854.77716.6c. J Neuropathol Exp Neurol. 2006. PMID: 17021404
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy.
Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR. Wagner KR, et al. Among authors: pestronk a. Ann Neurol. 2008 May;63(5):561-71. doi: 10.1002/ana.21338. Ann Neurol. 2008. PMID: 18335515 Clinical Trial.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: pestronk a. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
314 results