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Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.
Neurology. 2020 Oct 13;95(15):e2131-e2139. doi: 10.1212/WNL.0000000000010604. Epub 2020 Aug 6.
Neurology. 2020.
PMID: 32764098
Free PMC article.
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.
Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, Campbell KP.
Mathews KD, et al.
Neurology. 2011 Jan 11;76(2):194-5. doi: 10.1212/WNL.0b013e3182061ad4.
Neurology. 2011.
PMID: 21220724
Free PMC article.
No abstract available.
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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: laubenthal ks.
Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.
Hum Mutat. 2009.
PMID: 19937601
Free PMC article.
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LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.
Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project.
Flanigan KM, et al.
Ann Neurol. 2013 Apr;73(4):481-8. doi: 10.1002/ana.23819. Epub 2013 Feb 20.
Ann Neurol. 2013.
PMID: 23440719
Free PMC article.
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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.
Kobayashi DT, et al.
PLoS One. 2013;8(4):e60113. doi: 10.1371/journal.pone.0060113. Epub 2013 Apr 2.
PLoS One. 2013.
PMID: 23565191
Free PMC article.
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Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.
Bushby K, et al.
Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.
Muscle Nerve. 2014.
PMID: 25042182
Free PMC article.
Clinical Trial.
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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.
Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426.
Hum Mutat. 2011.
PMID: 21972111
Free PMC article.
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The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.
Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.
Thangarajh M, et al.
Neurology. 2018 Sep 25;91(13):e1215-e1219. doi: 10.1212/WNL.0000000000006245. Epub 2018 Aug 22.
Neurology. 2018.
PMID: 30135256
Free PMC article.
Clinical Trial.
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