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Items: 1 to 20 of 144

1.

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.

2.

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.

3.

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.

Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L.

Eur J Hum Genet. 2013 Jun;21(6):630-6. doi: 10.1038/ejhg.2012.233. Epub 2012 Oct 17.

4.

Responsiveness of the motor function measure in patients with spinal muscular atrophy.

Vuillerot C, Payan C, Iwaz J, Ecochard R, Bérard C; MFM Spinal Muscular Atrophy Study Group.

Arch Phys Med Rehabil. 2013 Aug;94(8):1555-61. doi: 10.1016/j.apmr.2013.01.014. Epub 2013 Feb 1.

PMID:
23380348
5.

Spinal muscular atrophy: survival pattern and functional status.

Chung BH, Wong VC, Ip P.

Pediatrics. 2004 Nov;114(5):e548-53. Epub 2004 Oct 18.

PMID:
15492357
6.

Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III.

Chng SY, Wong YQ, Hui JH, Wong HK, Ong HT, Goh DY.

J Paediatr Child Health. 2003 Dec;39(9):673-6.

PMID:
14629498
7.

The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

Rudnik-Schöneborn S, Hausmanowa-Petrusewicz I, Borkowska J, Zerres K.

Eur Neurol. 2001;45(3):174-81.

PMID:
11306862
8.

Outcome measures for pediatric spinal muscular atrophy.

Iannaccone ST; American Spinal Muscular Atrophy Randomized Trials (AmSMART) Group.

Arch Neurol. 2002 Sep;59(9):1445-50.

PMID:
12223032
9.

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
10.

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.

Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Bromberg MB, Chan GM, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators' Network.

PLoS One. 2011;6(7):e21296. doi: 10.1371/journal.pone.0021296. Epub 2011 Jul 6.

11.

An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

O'Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, Riley S, Sanborn E, Irvine C, Martens WB, Annis C, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC.

Neuromuscul Disord. 2007 Oct;17(9-10):693-7. Epub 2007 Jul 19.

PMID:
17658255
12.

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.

Muscle Nerve. 2014 May;49(5):636-44. doi: 10.1002/mus.23967.

13.

[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].

Barois A, Mayer M, Desguerre I, Chabrol B, Berard C, Cuisset JM, Leclair-Richard D, Visconti-Lougovoy J, Hatton F, Estournet-Mathiaud B.

Bull Acad Natl Med. 2005 Jun;189(6):1181-98; discussion 1198-9. French.

PMID:
16433443
14.

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid.

Darbar IA, Plaggert PG, Resende MB, Zanoteli E, Reed UC.

BMC Neurol. 2011 Mar 24;11:36. doi: 10.1186/1471-2377-11-36.

15.

Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study.

Werlauff U, Vissing J, Steffensen BF.

Neuromuscul Disord. 2012 Dec;22(12):1069-74. doi: 10.1016/j.nmd.2012.06.352. Epub 2012 Nov 3.

PMID:
23127961
16.

Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients.

Fujak A, Raab W, Schuh A, Richter S, Forst R, Forst J.

BMC Musculoskelet Disord. 2013 Oct 4;14:283. doi: 10.1186/1471-2474-14-283.

17.

A natural history study of late onset spinal muscular atrophy types 3b and 4.

Piepers S, van den Berg LH, Brugman F, Scheffer H, Ruiterkamp-Versteeg M, van Engelen BG, Faber CG, de Visser M, van der Pol WL, Wokke JH.

J Neurol. 2008 Sep;255(9):1400-4. doi: 10.1007/s00415-008-0929-0. Epub 2008 Jun 30.

PMID:
18575920
18.

Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group.

Iannaccone ST, Browne RH, Samaha FJ, Buncher CR.

Pediatr Neurol. 1993 May-Jun;9(3):187-93.

PMID:
8352849
19.

Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.

Febrer A, Rodriguez N, Alias L, Tizzano E.

J Rehabil Med. 2010 Mar;42(3):228-31. doi: 10.2340/16501977-0507.

20.

Drug treatment for spinal muscular atrophy types II and III.

Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.

Cochrane Database Syst Rev. 2012 Apr 18;4:CD006282. doi: 10.1002/14651858.CD006282.pub4. Review.

PMID:
22513940
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