Publications by authors named "Stephen J Kolb"

50Publications

Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials.

JAMA Neurol 2020 Jun;77(6):755-763

University of Rochester, Rochester, New York.

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http://dx.doi.org/10.1001/jamaneurol.2020.0367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483960PMC
June 2020

Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort.

Neurol Genet 2020 Feb 13;6(1):e390. Epub 2020 Jan 13.

Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.

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http://dx.doi.org/10.1212/NXG.0000000000000390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984133PMC
February 2020

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

Muscle Nerve 2020 02 11;61(2):187-191. Epub 2019 Dec 11.

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
February 2020

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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085941PMC
May 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

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

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

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

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

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

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

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

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

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

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

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

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