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Items: 1 to 20 of 41

1.

SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy.

Iyer CC, Wang X, Renusch SR, Duque SI, Wehr AM, Mo XM, McGovern VL, Arnold WD, Burghes AH, Kolb SJ.

J Neuromuscul Dis. 2017;4(1):59-66. doi: 10.3233/JND-170209.

PMID:
28269795
2.

Pregnancy and delivery in women with spinal muscular atrophy.

Elsheikh BH, Zhang X, Swoboda KJ, Chelnick S, Reyna SP, Kolb SJ, Kissel JT.

Int J Neurosci. 2017 Feb 5:1-5. doi: 10.1080/00207454.2017.1281273. [Epub ahead of print]

PMID:
28102719
3.

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration.

Arnold WD, Duque S, Iyer CC, Zaworski P, McGovern VL, Taylor SJ, von Herrmann KM, Kobayashi DT, Chen KS, Kolb SJ, Paushkin SV, Burghes AH.

PLoS One. 2016 Dec 1;11(12):e0167077. doi: 10.1371/journal.pone.0167077. eCollection 2016.

4.

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Iyadurai S, Arnold WD, Kissel JT, Ruhno C, Mcgovern VL, Snyder PJ, Prior TW, Roggenbuck J, Burghes AH, Kolb SJ.

Muscle Nerve. 2017 Aug;56(2):341-345. doi: 10.1002/mus.25491. Epub 2017 Feb 20.

PMID:
27875632
5.

Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.

Roggenbuck J, Quick A, Kolb SJ.

Genet Med. 2017 Mar;19(3):267-274. doi: 10.1038/gim.2016.107. Epub 2016 Aug 18. Review.

PMID:
27537704
6.

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.

7.

The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy.

Arnold W, McGovern VL, Sanchez B, Li J, Corlett KM, Kolb SJ, Rutkove SB, Burghes AH.

Neurobiol Dis. 2016 Mar;87:116-23. doi: 10.1016/j.nbd.2015.12.014. Epub 2015 Dec 28.

8.

Spinal Muscular Atrophy.

Kolb SJ, Kissel JT.

Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004. Review.

9.

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles.

Arnold WD, Sheth KA, Wier CG, Kissel JT, Burghes AH, Kolb SJ.

J Vis Exp. 2015 Sep 25;(103). doi: 10.3791/52899.

10.

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.

Renusch SR, Harshman S, Pi H, Workman E, Wehr A, Li X, Prior TW, Elsheikh BH, Swoboda KJ, Simard LR, Kissel JT, Battle D, Parthun MR, Freitas MA, Kolb SJ.

J Neuromuscul Dis. 2015 Jun 4;2(2):119-130.

11.

Laboratory evaluation of suspected motor neuron disease: A survey of physicians.

Sanderson AB, Novak JC, Nash SM, Kolb SJ, Kissel JT.

Muscle Nerve. 2015 Jul;52(1):83-7. doi: 10.1002/mus.24639. Epub 2015 May 14.

PMID:
25736958
12.

A large animal model of spinal muscular atrophy and correction of phenotype.

Duque SI, Arnold WD, Odermatt P, Li X, Porensky PN, Schmelzer L, Meyer K, Kolb SJ, Schümperli D, Kaspar BK, Burghes AH.

Ann Neurol. 2015 Mar;77(3):399-414. doi: 10.1002/ana.24332. Epub 2015 Feb 9.

13.

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Arnold WD, Mo X, Kolb SJ, Burghes AH, Kissel JT.

Muscle Nerve. 2014 Sep;50(3):457-8. doi: 10.1002/mus.24318. Epub 2014 Aug 5. No abstract available.

PMID:
24934113
14.

NeuroNEXT SMA biomarkers study.

Kolb SJ.

Ann Neurol. 2013 Aug;74(2):A8. doi: 10.1002/ana.23984. No abstract available.

PMID:
24902530
15.

Safety, pharmacokinetic, and functional effects of the nogo-a monoclonal antibody in amyotrophic lateral sclerosis: a randomized, first-in-human clinical trial.

Meininger V, Pradat PF, Corse A, Al-Sarraj S, Rix Brooks B, Caress JB, Cudkowicz M, Kolb SJ, Lange D, Leigh PN, Meyer T, Milleri S, Morrison KE, Orrell RW, Peters G, Rothstein JD, Shefner J, Lavrov A, Williams N, Overend P, Price J, Bates S, Bullman J, Krull D, Berges A, Abila B, Meno-Tetang G, Wurthner J.

PLoS One. 2014 May 19;9(5):e97803. doi: 10.1371/journal.pone.0097803. eCollection 2014.

16.

Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept.

Arnold WD, Porensky PN, McGovern VL, Iyer CC, Duque S, Li X, Meyer K, Schmelzer L, Kaspar BK, Kolb SJ, Kissel JT, Burghes AH.

Ann Clin Transl Neurol. 2014 Jan 1;1(1):34-44.

17.

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS.

Meyer K, Ferraiuolo L, Miranda CJ, Likhite S, McElroy S, Renusch S, Ditsworth D, Lagier-Tourenne C, Smith RA, Ravits J, Burghes AH, Shaw PJ, Cleveland DW, Kolb SJ, Kaspar BK.

Proc Natl Acad Sci U S A. 2014 Jan 14;111(2):829-32. doi: 10.1073/pnas.1314085111. Epub 2013 Dec 30.

18.

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

Kissel JT, Elsheikh B, King WM, Freimer M, Scott CB, Kolb SJ, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators Network.

Muscle Nerve. 2014 Feb;49(2):187-92.

19.

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.

20.

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.

Srivastava AK, Renusch SR, Naiman NE, Gu S, Sneh A, Arnold WD, Sahenk Z, Kolb SJ.

Neurobiol Dis. 2012 Aug;47(2):163-73. doi: 10.1016/j.nbd.2012.03.035. Epub 2012 Apr 11.

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