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Items: 48

1.

Muscle contractility dysfunction precedes loss of motor unit connectivity in SOD1(G93A) mice.

Wier CG, Crum AE, Reynolds AB, Iyer CC, Chugh D, Palettas MS, Heilman PL, Kline DM, Arnold WD, Kolb SJ.

Muscle Nerve. 2018 Oct 28. doi: 10.1002/mus.26365. [Epub ahead of print]

PMID:
30370671
2.

Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study.

Krosschell KJ, Bosch M, Nelson L, Duong T, Lowes LP, Alfano LN, Benjamin D, Carry TB, Devine G, Kelley C, Gadekan R, Malkus EC, Pasternak A, Provance-Orr S, Roemeiser-Logan L, Nicorici A, Trussell D, Young SD, Fetterman JR, Montes J, Powers PJ, Quinones R, Quigley J, Coffey CS, Yankey JW, Bartlett A, Kissel JT, Kolb SJ; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

J Neuromuscul Dis. 2018;5(4):509-521. doi: 10.3233/JND-180327.

PMID:
30223401
3.

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Bartlett A, Kolb SJ, Kingsley A, 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, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep.

4.

Muscle strength and size are associated with motor unit connectivity in aged mice.

Sheth KA, Iyer CC, Wier CG, Crum AE, Bratasz A, Kolb SJ, Clark BC, Burghes AHM, Arnold WD.

Neurobiol Aging. 2018 Jul;67:128-136. doi: 10.1016/j.neurobiolaging.2018.03.016. Epub 2018 Mar 23.

5.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

PMID:
29566793
6.

Spinal muscular atrophy: Selective motor neuron loss and global defect in the assembly of ribonucleoproteins.

Beattie CE, Kolb SJ.

Brain Res. 2018 Aug 15;1693(Pt A):92-97. doi: 10.1016/j.brainres.2018.02.022. Epub 2018 Feb 17.

PMID:
29462610
7.

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing.

Wagner KN, Nagaraja HN, Allain DC, Quick A, Kolb SJ, Roggenbuck J.

Mol Genet Genomic Med. 2018 Mar;6(2):224-229. doi: 10.1002/mgg3.360. Epub 2017 Dec 20.

8.

Natural history of infantile-onset spinal muscular atrophy.

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, 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, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators.

Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8.

9.

HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.

Heilman PL, Song S, Miranda CJ, Meyer K, Srivastava AK, Knapp A, Wier CG, Kaspar BK, Kolb SJ.

Exp Neurol. 2017 Nov;297:101-109. doi: 10.1016/j.expneurol.2017.08.002. Epub 2017 Aug 7.

10.

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.

11.

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 Nov;127(11):953-957. doi: 10.1080/00207454.2017.1281273. Epub 2017 Feb 5.

PMID:
28102719
12.

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.

13.

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.

14.

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
15.

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.

16.

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.

17.

Spinal Muscular Atrophy.

Kolb SJ, Kissel JT.

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

18.

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.

19.

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.

20.

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
21.

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.

22.

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
23.

NeuroNEXT SMA biomarkers study.

Kolb SJ.

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

PMID:
24902530
24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.

Workman E, Kolb SJ, Battle DJ.

Brain Res. 2012 Jun 26;1462:93-9. doi: 10.1016/j.brainres.2012.02.051. Epub 2012 Feb 28. Review.

30.

Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders.

Bevan AK, Duque S, Foust KD, Morales PR, Braun L, Schmelzer L, Chan CM, McCrate M, Chicoine LG, Coley BD, Porensky PN, Kolb SJ, Mendell JR, Burghes AH, Kaspar BK.

Mol Ther. 2011 Nov;19(11):1971-80. doi: 10.1038/mt.2011.157. Epub 2011 Aug 2.

31.

Spinal muscular atrophy: a timely review.

Kolb SJ, Kissel JT.

Arch Neurol. 2011 Aug;68(8):979-84. doi: 10.1001/archneurol.2011.74. Epub 2011 Apr 11.

32.

Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.

Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW.

Neurology. 2010 Feb 9;74(6):502-6. doi: 10.1212/WNL.0b013e3181cef84a.

PMID:
20142617
33.

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.

Elsheikh B, Prior T, Zhang X, Miller R, Kolb SJ, Moore D, Bradley W, Barohn R, Bryan W, Gelinas D, Iannaccone S, Leshner R, Mendell JR, Mendoza M, Russman B, Smith S, King W, Kissel JT.

Muscle Nerve. 2009 Oct;40(4):652-6. doi: 10.1002/mus.21350.

PMID:
19760790
34.

RNA processing defects associated with diseases of the motor neuron.

Kolb SJ, Sutton S, Schoenberg DR.

Muscle Nerve. 2010 Jan;41(1):5-17. doi: 10.1002/mus.21428. Review.

35.

Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia.

Kolb SJ, Kissel JT.

J Clin Neuromuscul Dis. 2008 Sep;10(1):22-3. doi: 10.1097/CND.0b013e318182105f.

PMID:
18772697
36.

Molecular functions of the SMN complex.

Kolb SJ, Battle DJ, Dreyfuss G.

J Child Neurol. 2007 Aug;22(8):990-4. Review.

PMID:
17761654
37.

Absence of heterogeneous nuclear ribonucleoproteins and survival motor neuron protein in TDP-43 positive inclusions in frontotemporal lobar degeneration.

Neumann M, Igaz LM, Kwong LK, Nakashima-Yasuda H, Kolb SJ, Dreyfuss G, Kretzschmar HA, Trojanowski JQ, Lee VM.

Acta Neuropathol. 2007 May;113(5):543-8. Epub 2007 Apr 6.

PMID:
17415574
38.

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials.

Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, Fischbeck KH.

Neurology. 2006 Apr 11;66(7):1067-73. Epub 2006 Feb 15.

PMID:
16481599
39.

A novel cell immunoassay to measure survival of motor neurons protein in blood cells.

Kolb SJ, Gubitz AK, Olszewski RF Jr, Ottinger E, Sumner CJ, Fischbeck KH, Dreyfuss G.

BMC Neurol. 2006 Feb 1;6:6.

40.

The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy.

Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, Wang J, Dreyfuss G.

Mol Cell Biol. 2005 Jul;25(13):5543-51.

41.

Distinguishing ischemic stroke from the stroke-like lesions of MELAS using apparent diffusion coefficient mapping.

Kolb SJ, Costello F, Lee AG, White M, Wong S, Schwartz ED, Messé SR, Ellenbogen J, Kasner SE, Galetta SL.

J Neurol Sci. 2003 Dec 15;216(1):11-5.

PMID:
14607297
42.

Utility of the NIH Stroke Scale as a predictor of hospital disposition.

Schlegel D, Kolb SJ, Luciano JM, Tovar JM, Cucchiara BL, Liebeskind DS, Kasner SE.

Stroke. 2003 Jan;34(1):134-7.

PMID:
12511764
43.
44.

Psychometric evaluation of an inpatient psychiatric care consumer satisfaction survey.

Kolb SJ, Race KE, Seibert JH.

J Behav Health Serv Res. 2000 Feb;27(1):75-86.

PMID:
10695242
45.

Identification of domains essential for the assembly of calcium/calmodulin-dependent protein kinase II holoenzymes.

Kolb SJ, Hudmon A, Ginsberg TR, Waxham MN.

J Biol Chem. 1998 Nov 20;273(47):31555-64.

46.

Inactivation and self-association of Ca2+/calmodulin-dependent protein kinase II during autophosphorylation.

Hudmon A, Aronowski J, Kolb SJ, Waxham MN.

J Biol Chem. 1996 Apr 12;271(15):8800-8.

47.

Ca2+/calmodulin kinase II translocates in a hippocampal slice model of ischemia.

Kolb SJ, Hudmon A, Waxham MN.

J Neurochem. 1995 May;64(5):2147-56.

PMID:
7722499
48.

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