Stephen J Kolb

Stephen J Kolb

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Stephen J Kolb

Stephen J Kolb

Publications by authors named "Stephen J Kolb"

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Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy.

Muscle Nerve 2019 Nov 14. Epub 2019 Nov 14.

Department of Neurology, Division of, Neuromuscular Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio.

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http://dx.doi.org/10.1002/mus.26756DOI Listing
November 2019

Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.

Amyotroph Lateral Scler Frontotemporal Degener 2019 05 1;20(3-4):216-221. Epub 2019 Apr 1.

a Division of Human Genetics , The Ohio State University Medical Center , Columbus , OH , USA.

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http://dx.doi.org/10.1080/21678421.2019.1582670DOI Listing
May 2019

Current Treatment Options in Neurology-SMA Therapeutics.

Curr Treat Options Neurol 2019 Apr 29;21(6):25. Epub 2019 Apr 29.

Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s11940-019-0568-zDOI Listing
April 2019

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

Muscle Nerve 2019 02 21;59(2):254-262. Epub 2018 Dec 21.

Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

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http://doi.wiley.com/10.1002/mus.26365
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http://dx.doi.org/10.1002/mus.26365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340745PMC
February 2019

Variable reporting of and a high rate of uncertain results in ALS genetic testing.

Neurol Genet 2019 Feb 7;5(1):e301. Epub 2019 Jan 7.

Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.

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http://dx.doi.org/10.1212/NXG.0000000000000301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340336PMC
February 2019

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

Brain Res 2018 08 17;1693(Pt A):92-97. Epub 2018 Feb 17.

Center for RNA Biology, The Ohio State University Wexner Medical Center, Columbus, OH, USA; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2018.02.022DOI Listing
August 2018

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

Neurobiol Aging 2018 07 23;67:128-136. Epub 2018 Mar 23.

Department of Neurology, Ohio State University, Columbus, OH, USA; Department of Physical Medicine and Rehabilitation, Ohio State University, Columbus, OH, USA; Department of Neuroscience, Ohio State University, Columbus, OH, USA; Department of Physiology and Cell Biology, Ohio State University, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.03.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981861PMC
July 2018

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

J Neuromuscul Dis 2017 ;4(1):59-66

Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Oh, USA.

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http://dx.doi.org/10.3233/JND-170209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531281PMC
March 2018

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

Mol Genet Genomic Med 2018 03 20;6(2):224-229. Epub 2017 Dec 20.

Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

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http://dx.doi.org/10.1002/mgg3.360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902388PMC
March 2018

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

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Pregnancy and delivery in women with spinal muscular atrophy.

Int J Neurosci 2017 Nov 5;127(11):953-957. Epub 2017 Feb 5.

d Department of Neurology , The Ohio State University Wexner Medical Center, Columbus , OH , USA.

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http://dx.doi.org/10.1080/00207454.2017.1281273DOI Listing
November 2017

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

Exp Neurol 2017 11 7;297:101-109. Epub 2017 Aug 7.

Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, United States; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2017.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612892PMC
November 2017

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

Muscle Nerve 2017 08 20;56(2):341-345. Epub 2017 Feb 20.

Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.

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http://dx.doi.org/10.1002/mus.25491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440221PMC
August 2017

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

Genet Med 2017 03 18;19(3):267-274. Epub 2016 Aug 18.

The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

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http://www.nature.com/articles/gim2016107
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http://dx.doi.org/10.1038/gim.2016.107DOI Listing
March 2017

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

Neurobiol Dis 2016 Mar 28;87:116-23. Epub 2015 Dec 28.

Department of Neurology, The Ohio State University Wexner Medical Center, 395 W. 12th Ave, Columbus, OH 43210, United States; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, 363 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210, United States.

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http://dx.doi.org/10.1016/j.nbd.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724465PMC
March 2016

Spinal Muscular Atrophy.

Neurol Clin 2015 Nov;33(4):831-46

Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ncl.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628728PMC
November 2015

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

J Vis Exp 2015 Sep 25(103). Epub 2015 Sep 25.

Department of Neurology, The Ohio State University Wexner Medical Center; Department of Neuroscience, The Ohio State University Wexner Medical Center; Department of Biochemistry and Pharmacology, The Ohio State University Wexner Medical Center.

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http://dx.doi.org/10.3791/52899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676269PMC
September 2015

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

Muscle Nerve 2015 Jul 14;52(1):83-7. Epub 2015 May 14.

Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/mus.24639DOI Listing
July 2015

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

Ann Neurol 2015 Mar 9;77(3):399-414. Epub 2015 Feb 9.

Department of Molecular and Cellular Biochemistry, Ohio State University Wexner Medical Center, Columbus, OH.

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http://dx.doi.org/10.1002/ana.24332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453930PMC
March 2015

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

Muscle Nerve 2014 Sep 5;50(3):457-8. Epub 2014 Aug 5.

Department of Neurology, Wexner Medical Center, The Ohio State University, Columbus, Ohio, USA; Department of Physical Medicine and Rehabilitation, Wexner Medical Center, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/mus.24318DOI Listing
September 2014

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

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

Department of Molecular & Cellular Biochemistry, Wexner Medical Center, The Ohio State University, 363 Hamilton Hall, 1645 Neil Ave, Columbus, Ohio 43210 ; Department of Neurology, The Ohio State University Wexner Medical Center, 395 W. 12 Ave, Columbus, Ohio 43210.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914317PMC
http://dx.doi.org/10.1002/acn3.23DOI Listing
January 2014

NeuroNEXT SMA biomarkers study.

Authors:
Stephen J Kolb

Ann Neurol 2013 Aug;74(2):A8

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http://dx.doi.org/10.1002/ana.23984DOI Listing
August 2013

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

Neurobiol Dis 2012 Aug 11;47(2):163-73. Epub 2012 Apr 11.

Center for RNA Biology and Department of Molecular & Cellular Biochemistry, The Ohio State University Medical Center, Columbus, OH 43210-1228, USA.

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http://dx.doi.org/10.1016/j.nbd.2012.03.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3367118PMC
August 2012

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

Brain Res 2012 Jun 28;1462:93-9. Epub 2012 Feb 28.

Department of Molecular and Cellular Biochemistry, Wexner Medical Center at The Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1016/j.brainres.2012.02.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448484PMC
June 2012

Spinal muscular atrophy: a timely review.

Arch Neurol 2011 Aug 11;68(8):979-84. Epub 2011 Apr 11.

Department of Neurology, Ohio State University, Columbus, 43210, USA.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2011.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860273PMC
August 2011

RNA processing defects associated with diseases of the motor neuron.

Muscle Nerve 2010 Jan;41(1):5-17

Department of Neurology, Ohio State University Medical Center, Hamilton Hall, Room 337B, 1645 Neil Avenue, Columbus, Ohio 43210-1228, USA.

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http://dx.doi.org/10.1002/mus.21428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654835PMC
January 2010

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

J Clin Neuromuscul Dis 2008 Sep;10(1):22-3

Department of Neurology, The Ohio State University Medical Center, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1097/CND.0b013e318182105fDOI Listing
September 2008

Molecular functions of the SMN complex.

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

Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/0883073807305666DOI Listing
August 2007

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

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

Center for Neuropathology and Prion Research, Ludwig-Maximilians University, Feodor-Lynen-Str. 23, 81377 Munich, Germany.

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http://dx.doi.org/10.1007/s00401-007-0221-xDOI Listing
May 2007

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

BMC Neurol 2006 Feb 1;6. Epub 2006 Feb 1.

Howard Hughes Medical Institute And Department of Biochemistry & Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6148, USA.

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http://dx.doi.org/10.1186/1471-2377-6-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1413553PMC
February 2006

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

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

Howard Hughes Medical Institute, Department of Biochemistry & Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6148, USA.

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http://dx.doi.org/10.1128/MCB.25.13.5543-5551.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1156985PMC
July 2005

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

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

Department of Neurology, University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1161/01.str.0000048217.44714.02DOI Listing
January 2003