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Page 1
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). Kaufmann P, et al. Among authors: yang ml. Neurology. 2012 Oct 30;79(18):1889-97. doi: 10.1212/WNL.0b013e318271f7e4. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077013 Free PMC article.
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.
Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule DM, Foley AR, Yang M, Tawil R, Chung W, Martens B, Montes J, O'Hagen J, Dunaway S, Flickinger JM, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Irvine C, Annis CL, Butler H, Caracciolo J, Montgomery M, Marra J, Koo B, De Vivo DC; Muscle Study Group; Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy. Kaufmann P, et al. Arch Neurol. 2011 Jun;68(6):779-86. doi: 10.1001/archneurol.2010.373. Epub 2011 Feb 14. Arch Neurol. 2011. PMID: 21320981 Free PMC article.
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). Glanzman AM, et al. Pediatr Phys Ther. 2011 Winter;23(4):322-6. doi: 10.1097/PEP.0b013e3182351f04. Pediatr Phys Ther. 2011. PMID: 22090068
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.
The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
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. Kang PB, et al. Among authors: yang ml. Muscle Nerve. 2014 May;49(5):636-44. doi: 10.1002/mus.23967. Muscle Nerve. 2014. PMID: 23893312 Free PMC article.
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. Kang PB, et al. Among authors: yang ml. Muscle Nerve. 2014 Sep;50(3):458-9. doi: 10.1002/mus.24317. Epub 2014 Aug 5. Muscle Nerve. 2014. PMID: 24935909 No abstract available.
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.
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG. Zukosky K, et al. Among authors: yang ml. JAMA Neurol. 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. JAMA Neurol. 2015. PMID: 25938801 Free PMC article.
437 results