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Items: 1 to 20 of 23

1.

A qualitative study of perceptions of meaningful change in spinal muscular atrophy.

McGraw S, Qian Y, Henne J, Jarecki J, Hobby K, Yeh WS.

BMC Neurol. 2017 Apr 4;17(1):68. doi: 10.1186/s12883-017-0853-y.

2.

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, Salazar R, Fanelli L, Civitello M, de Sanctis R, Antonaci L, Lapenta L, Lucibello S, Pane M, Day J, Darras BT, De Vivo DC, Muntoni F, Finkel R, Mercuri E.

BMC Neurol. 2017 Feb 23;17(1):39. doi: 10.1186/s12883-017-0790-9.

3.

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

Ramsey D, Scoto M, Mayhew A, Main M, Mazzone ES, Montes J, de Sanctis R, Dunaway Young S, Salazar R, Glanzman AM, Pasternak A, Quigley J, Mirek E, Duong T, Gee R, Civitello M, Tennekoon G, Pane M, Pera MC, Bushby K, Day J, Darras BT, De Vivo D, Finkel R, Mercuri E, Muntoni F.

PLoS One. 2017 Feb 21;12(2):e0172346. doi: 10.1371/journal.pone.0172346. eCollection 2017.

4.

Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients.

Chen X, Siebourg-Polster J, Wolf D, Czech C, Bonati U, Fischer D, Khwaja O, Strahm M.

PLoS One. 2017 Jan 25;12(1):e0170472. doi: 10.1371/journal.pone.0170472. eCollection 2017.

5.

Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?

Montes J, Garber CE, Kramer SS, Montgomery MJ, Dunaway S, Kamil-Rosenberg S, Carr B, Cruz R, Strauss NE, Sproule D, De Vivo DC.

J Neuromuscul Dis. 2015 Oct 7;2(4):463-470.

6.

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy.

Hammond SM, Hazell G, Shabanpoor F, Saleh AF, Bowerman M, Sleigh JN, Meijboom KE, Zhou H, Muntoni F, Talbot K, Gait MJ, Wood MJ.

Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):10962-7. doi: 10.1073/pnas.1605731113. Epub 2016 Sep 12.

7.

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.

Chiriboga CA, Swoboda KJ, Darras BT, Iannaccone ST, Montes J, De Vivo DC, Norris DA, Bennett CF, Bishop KM.

Neurology. 2016 Mar 8;86(10):890-7. doi: 10.1212/WNL.0000000000002445. Epub 2016 Feb 10.

8.

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Muntoni F, De Vivo DC.

Neuromuscul Disord. 2016 Feb;26(2):126-31. doi: 10.1016/j.nmd.2015.10.006. Epub 2015 Dec 3.

9.

Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study.

Qian Y, McGraw S, Henne J, Jarecki J, Hobby K, Yeh WS.

BMC Neurol. 2015 Oct 24;15:217. doi: 10.1186/s12883-015-0473-3.

10.

English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.

Vuillerot C, Meilleur KG, Jain M, Waite M, Wu T, Linton M, Datsgir J, Donkervoort S, Leach ME, Rutkowski A, Rippert P, Payan C, Iwaz J, Hamroun D, Bérard C, Poirot I, Bönnemann CG.

Arch Phys Med Rehabil. 2014 Nov;95(11):2064-2070.e1. doi: 10.1016/j.apmr.2014.05.003. Epub 2014 May 24.

11.

Rasch analysis of clinical outcome measures in spinal muscular atrophy.

Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, Steffensen BF, Bérard C, Girardot F, Payan CA, Mercuri E, Mazzone E, Elsheikh B, Florence J, Hynan LS, Iannaccone ST, Nelson LL, Pandya S, Rose M, Scott C, Sadjadi R, Yore MA, Joyce C, Kissel JT; International Coordinating Committee for SMA Clinical Trials Rasch Task Force.

Muscle Nerve. 2014 Mar;49(3):422-30. doi: 10.1002/mus.23937. Epub 2013 Jul 26.

12.

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.

Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BT, Kang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M; MDA DMD Clinical Research Network.

Neuromuscul Disord. 2013 Jul;23(7):529-39. doi: 10.1016/j.nmd.2013.04.005. Epub 2013 May 28.

13.

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.

Liew WK, Kang PB.

Ther Adv Neurol Disord. 2013 May;6(3):147-60. doi: 10.1177/1756285612472386.

14.

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.

15.

Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.

Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, Viazzo-Trussell D, Wood J, Roman CA, Hecker E, Meffert M, Léveillé M, Kienitz K, Swoboda KJ; Project Cure SMA Investigators Network.

Pediatr Phys Ther. 2013 Summer;25(2):140-8; discussion 149. doi: 10.1097/PEP.0b013e31828a205f.

16.

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.

17.

Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy.

Krosschell KJ, Scott CB, Maczulski JA, Lewelt AJ, Reyna SP, Swoboda KJ; Project Cure SMA.

Muscle Nerve. 2011 Aug;44(2):246-51. doi: 10.1002/mus.22040. Epub 2011 Jun 22.

18.

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.

Arch Neurol. 2011 Jun;68(6):779-86. doi: 10.1001/archneurol.2010.373. Epub 2011 Feb 14.

19.

Assessing spinal muscular atrophy with quantitative ultrasound.

Wu JS, Darras BT, Rutkove SB.

Neurology. 2010 Aug 10;75(6):526-31. doi: 10.1212/WNL.0b013e3181eccf8f.

20.

Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy.

Sproule DM, Montes J, Dunaway S, Montgomery M, Battista V, Koenigsberger D, Martens B, Shen W, Punyanitya M, Benton M, Butler H, Caracciolo J, Mercuri E, Finkel R, Darras B, De Vivo DC, Kaufmann P.

Neuromuscul Disord. 2010 Jul;20(7):448-52. doi: 10.1016/j.nmd.2010.05.013. Epub 2010 Jun 17.

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