Steven A Moore

Steven A Moore

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Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Clin Imaging 2019 Jun 21;58:108-113. Epub 2019 Jun 21.

Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.

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http://dx.doi.org/10.1016/j.clinimag.2019.06.010DOI Listing
June 2019

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.

Neuromuscul Disord 2019 May 2;29(5):388-391. Epub 2019 Mar 2.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183127
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http://dx.doi.org/10.1016/j.nmd.2019.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812538PMC
May 2019

Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G.

Neurol Genet 2019 Apr 1;5(2):e315. Epub 2019 Mar 1.

University of Iowa (A.J.L.), Carver College of Medicine; Department of Pathology (K.A.J., M.O.C., S.A.M.), University of Iowa; Departments of Pediatrics and Neurology (R.J.B.), University of Utah; Department of Neurology (C.G.K.), University of California San Diego; Department of Neurology (C.G.), Gillette Children's Specialty Healthcare; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's; Department of Neurology (B.B.), Integris Southwest Medical Center; Departments of Pediatrics and Neurology (C.W.), Driscoll Children's Hospital; Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, University of Toronto; Departments of Pediatrics and Neurology (M.A.G., J.S.J.), University of Colorado; Department of Physical Medicine and Rehabilitation (A.B.), University of Colorado; Department of Neurosciences (R.T.L.), University of California San Diego; National Institutes of Health (S.D., C.G.B.), Institute of Neurological Disorders and Stroke; Department of Pathology (D.M.M.), University of California San Diego; Department of Human Genetics (R.B.W.), University of Utah; and Departments of Pediatrics and Neurology (K.D.M.), University of Iowa.

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http://dx.doi.org/10.1212/NXG.0000000000000315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454397PMC
April 2019

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Am J Hum Genet 2019 Mar 28;104(3):466-483. Epub 2019 Feb 28.

Division of Neurology, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193001
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http://dx.doi.org/10.1016/j.ajhg.2019.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407525PMC
March 2019

Validation of a Muscle-Specific Tissue Image Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies.

Arch Pathol Lab Med 2019 Feb 31;143(2):197-205. Epub 2018 Aug 31.

From Flagship Biosciences Inc, Westminster, Colorado (Drs Aeffner, Faelan, Black, Wilson, Kanaly, Rudmann, Lange, Young, and Milici and Mr Moody); the Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City (Dr Moore); and Sarepta Therapeutics Inc, Cambridge, Massachusetts (Drs Charleston and Frank and Messrs Dworzak, Piper, and Ranjitkar). Dr Moore is now with Oregon Health and Science University, Portland, and Dr Rudmann is now with Charles River Laboratories, Ashland, Ohio.

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http://www.archivesofpathology.org/doi/10.5858/arpa.2017-053
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http://dx.doi.org/10.5858/arpa.2017-0536-OADOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813837PMC
February 2019

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.

J Clin Neurosci 2018 Jul 21;53:229-231. Epub 2018 Apr 21.

Department of Neurology, Mayo Clinic, Rochester, MN, United States.

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http://dx.doi.org/10.1016/j.jocn.2018.04.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6792001PMC
July 2018

Uniparental disomy unveils a novel recessive mutation in POMT2.

Neuromuscul Disord 2018 07 10;28(7):592-596. Epub 2018 Apr 10.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183005
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http://dx.doi.org/10.1016/j.nmd.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115279PMC
July 2018

Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.

Muscle Nerve 2018 04 30;57(4):679-683. Epub 2017 Sep 30.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.

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http://dx.doi.org/10.1002/mus.25970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915624PMC
April 2018

A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

J Pathol Clin Res 2018 04 1;4(2):135-145. Epub 2018 Mar 1.

Division of Cardiovascular Medicine, Department of Cardiac Surgery, Dorothy M. Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

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http://dx.doi.org/10.1002/cjp2.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903698PMC
April 2018

Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data.

Muscle Nerve 2018 Jan 24. Epub 2018 Jan 24.

Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/mus.26083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057846PMC
January 2018

Child Neurology: muscular dystrophy without contractures.

Neurology 2017 05;88(21):e199-e203

From the Departments of Neurology (M.D., S.R.) and Pathology (W.K.), Wayne State University School of Medicine; Department of Neurology (S.R., H.J.), Children's Hospital of Michigan, Detroit; and Department of Pathology (S.A.M.), University of Iowa Carver College of Medicine, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000003958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440243PMC
May 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

Neurology 2016 11;87(19):e227-e230

From the Department of Neurology (C.Q., T.M.B.), University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA; Department of Pathology (S.A.M.), The University of Iowa, Carver College of Medicine, Iowa City, IA; and Department of Neurology (C.K.), Oregon Health and Science University, Portland, OR.

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http://dx.doi.org/10.1212/WNL.0000000000003320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109952PMC
November 2016

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Hum Mutat 2015 Dec 23;36(12):1159-63. Epub 2015 Sep 23.

Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa.

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http://dx.doi.org/10.1002/humu.22898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843780PMC
December 2015

Differential activation of catalase expression and activity by PPAR agonists: implications for astrocyte protection in anti-glioma therapy.

Redox Biol 2013 26;1:70-9. Epub 2013 Jan 26.

Department of Radiation Oncology, Free Radical and Radiation Biology, Holden Comprehensive Cancer Center, The University of Iowa, Iowa City, IA 52242, USA ; Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1016/j.redox.2012.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757675PMC
May 2015

Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.

PLoS Genet 2015 May 21;11(5):e1005231. Epub 2015 May 21.

Department of Biochemistry, University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440730PMC
May 2015

Inclusion body myositis and sarcoid myopathy: coincidental occurrence or associated diseases.

Neuromuscul Disord 2015 Apr 19;25(4):297-300. Epub 2014 Dec 19.

Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.nmd.2014.12.005DOI Listing
April 2015

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

Neurology 2015 Apr 13;84(14):1495-7. Epub 2015 Mar 13.

From the National Institutes of Health (D.X.B.-G., S.D., E.A.W., C.G.B.), Bethesda, MD; Children's National Medical Center (D.X.B.-G.), Washington, DC; CS Mott Children's Hospital (E.N.), University of Michigan, Ann Arbor; Columbia University Medical Center (J.D.), New York, NY; Prevention Genetics (T.L.W.), Marshfield, WI; University of Iowa (S.A.M.), Iowa City; and University of Texas Southwestern Medical Center Dallas (S.T.I.), Dallas, TX. Dr. Winder is currently with Invitae Corp., San Francisco, CA.

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http://dx.doi.org/10.1212/WNL.0000000000001440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395885PMC
April 2015

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.

Case Rep Genet 2015 23;2015:239167. Epub 2015 Mar 23.

Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1155/2015/239167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386706PMC
April 2015

X-linked myopathy with excessive autophagy: a failure of self-eating.

Acta Neuropathol 2015 Mar 3;129(3):383-90. Epub 2015 Feb 3.

Division of Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada,

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http://dx.doi.org/10.1007/s00401-015-1393-4DOI Listing
March 2015

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

Mol Genet Genomic Med 2015 Mar 8;3(2):92-8. Epub 2015 Jan 8.

Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics and Neurology, The Ohio State University Columbus, Ohio ; Department of Pathology, Ohio State University and Nationwide Children's Hospital Columbus, Ohio.

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http://dx.doi.org/10.1002/mgg3.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367081PMC
March 2015

Urologic and gastrointestinal symptoms in the dystroglycanopathies.

Neurology 2015 Feb 7;84(5):532-9. Epub 2015 Jan 7.

From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000001213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336067PMC
February 2015

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.

J Biol Chem 2014 Oct 19;289(41):28138-48. Epub 2014 Aug 19.

From the Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242-1101,

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http://dx.doi.org/10.1074/jbc.M114.597831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192470PMC
October 2014

Joiner et al. reply.

Nature 2014 Sep;513(7519):E3

1] Department of Internal Medicine and Cardiovascular Center, Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA [2] Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA [3] Department of Molecular Physiology &Biophysics, Carver College of Medicine, University of Iowa, 51 Newton Road, Iowa City, Iowa 52242, USA (M.A.J.); The Dorothy M. Davis Heart and Lung Research Institute, The Ohio State University, Columbus, Ohio 43210, USA (J.L., P.J.M.); Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA (B.J.H.); Johns Hopkins University School of Medicine, 1830 East Monument Street, 9th Floor, Suite 9026, Baltimore, Maryland 21287, USA (E.D.L., M.E.A.).

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http://dx.doi.org/10.1038/nature13627DOI Listing
September 2014

Late adult-onset of X-linked myopathy with excessive autophagy.

Muscle Nerve 2014 Jul 17;50(1):138-44. Epub 2014 May 17.

Department of Pathology, University of Iowa Carver College of Medicine, Room 5239B, RCP, 200 Hawkins Drive, Iowa City, Iowa, 52242, USA.

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http://dx.doi.org/10.1002/mus.24197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589296PMC
July 2014

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Neuromuscul Disord 2014 Apr 11;24(4):312-20. Epub 2014 Jan 11.

Department of Neurology, University of Washington, Seattle, WA, United States; Department of Pediatrics, University of Washington, Seattle, WA, United States; Seattle Children's Hospital, Seattle, WA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959257PMC
April 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.

Nature 2013 Nov 16;503(7474):136-40. Epub 2013 Oct 16.

1] Howard Hughes Medical Institute, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa 52242, USA [2] Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1038/nature12605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891507PMC
November 2013

Astrocytes in the rat nucleus tractus solitarii are critical for cardiovascular reflex control.

J Neurosci 2013 Nov;33(47):18608-17

Laboratory of Neurobiology, Department of Neurology, Carver College of Medicine, The University of Iowa and Iowa City Veterans Affairs Medical Center, Iowa City, Iowa 52242, and Department of Pathology, Caver College of Medicine, The University of Iowa, Iowa City, Iowa 52242.

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http://dx.doi.org/10.1523/JNEUROSCI.3257-13.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834061PMC
November 2013

Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins.

Acta Neuropathol Commun 2013 Sep 6;1:58. Epub 2013 Sep 6.

Department of Pathology, 4270A Carver Biomedical Research Building, The University of Iowa, 285 Newton Road, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1186/2051-5960-1-58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893534PMC
September 2013

CaMKII determines mitochondrial stress responses in heart.

Nature 2012 Nov 10;491(7423):269-73. Epub 2012 Oct 10.

Department of Internal Medicine and Cardiovascular Center, Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1038/nature11444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471377PMC
November 2012

Sudden death and myocardial lesions after damage to catecholamine neurons of the nucleus tractus solitarii in rat.

Cell Mol Neurobiol 2012 Oct 8;32(7):1119-26. Epub 2012 Apr 8.

Department of Neurology, Carver College of Medicine, University of Iowa and Department of Veterans Affairs Medical Center, Iowa, IA 52242, USA.

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http://dx.doi.org/10.1007/s10571-012-9835-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363999PMC
October 2012

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

Hum Mol Genet 2012 Apr 20;21(7):1544-56. Epub 2011 Dec 20.

Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1093/hmg/ddr592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298278PMC
April 2012

Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle.

Neuromuscul Disord 2010 Dec;20(12):820-5

Department of Pathology, University of California San Diego, La Jolla, CA, USA.

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http://dx.doi.org/10.1016/j.nmd.2010.07.278DOI Listing
December 2010

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice.

J Clin Invest 2010 Dec 8;120(12):4366-74. Epub 2010 Nov 8.

Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1172/JCI42390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2993587PMC
December 2010

Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes.

PLoS Genet 2010 Jul 1;6(7):e1001008. Epub 2010 Jul 1.

Department of Molecular Physiology and Biophysics, The University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1001008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895641PMC
July 2010

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.

Muscle Nerve 2009 Nov;40(5):883-9

Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW-514, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1002/mus.21432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862182PMC
November 2009

Visual impairment in the absence of dystroglycan.

J Neurosci 2009 Oct;29(42):13136-46

Department of Molecular Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.0474-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965532PMC
October 2009

Allele-specific RNAi mitigates phenotypic progression in a transgenic model of Alzheimer's disease.

Mol Ther 2009 Sep 16;17(9):1563-73. Epub 2009 Jun 16.

Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/mt.2009.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2835271PMC
September 2009

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Prenat Diagn 2009 Jun;29(6):560-9

Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1002/pd.2238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735827PMC
June 2009

Cardiac damage after lesions of the nucleus tractus solitarii.

Am J Physiol Regul Integr Comp Physiol 2009 Feb 19;296(2):R272-9. Epub 2008 Nov 19.

Department of Neurology, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1152/ajpregu.00080.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643979PMC
February 2009

Sarcolemma-localized nNOS is required to maintain activity after mild exercise.

Nature 2008 Nov 26;456(7221):511-5. Epub 2008 Oct 26.

Howard Hughes Medical Institute, University of Iowa, Roy J. and Lucille A. Carver College of Medicine, 4283 Carver Biomedical Research Building, 285 Newton Road, Iowa City, Iowa 52242-1101, USA.

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http://dx.doi.org/10.1038/nature07414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588643PMC
November 2008

Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast.

J Neurosci 2008 Oct;28(42):10567-75

Howard Hughes Medical Institute and Department of Molecular Physiology, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.2457-08.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714190PMC
October 2008

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.

Hum Mol Genet 2008 May 5;17(9):1201-13. Epub 2008 Feb 5.

Howard Hughes Medical Institute, The University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1093/hmg/ddn009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713597PMC
May 2008

Dysferlin-deficient muscular dystrophy features amyloidosis.

Ann Neurol 2008 Mar;63(3):323-8

Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max-Delbrück Center, Berlin, Germany.

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http://dx.doi.org/10.1002/ana.21309DOI Listing
March 2008

Muscle fatigue increases the probability of developing hyperalgesia in mice.

J Pain 2007 Sep 12;8(9):692-9. Epub 2007 Jul 12.

Physical Therapy and Rehabilitation Science Graduate Program, Department of Pathology, Pain Research Program, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1016/j.jpain.2007.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862310PMC
September 2007

Pharmacological characterization of endocannabinoid transport and fatty acid amide hydrolase inhibitors.

Cell Mol Neurobiol 2006 Jul-Aug;26(4-6):407-23. Epub 2006 May 31.

Eli Lilly & Company, Lilly Research Laboratories, Lilly Corporate Center, Indianapolis, Indiana 46285, USA.

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http://dx.doi.org/10.1007/s10571-006-9072-6DOI Listing
April 2007

20-Hydroxyeicosatetraenoic acid is a potent dilator of mouse basilar artery: role of cyclooxygenase.

Am J Physiol Heart Circ Physiol 2006 Nov 16;291(5):H2301-7. Epub 2006 Jun 16.

Dept. of Medicine, Harbor Hospital Center, 3001 S. Hanover St., Baltimore MD 21225, USA.

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http://dx.doi.org/10.1152/ajpheart.00349.2006DOI Listing
November 2006

Hughlings Jackson and the role of the entorhinal cortex in temporal lobe epilepsy: from patient A to Doctor Z.

Epilepsy Behav 2006 Nov 30;9(3):524-31. Epub 2006 Aug 30.

Department of Neurology, 1216 MERF, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.yebeh.2006.07.017DOI Listing
November 2006

Cannabinoids biology: the search for new therapeutic targets.

Mol Interv 2006 Jun;6(3):149-61

Eli Lilly and Co., Neuroscience Division, Indianapolis, IN 46285, USA.

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http://dx.doi.org/10.1124/mi.6.3.6DOI Listing
June 2006

Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS.

Arch Neurol 2005 Jul;62(7):1154-6

Department of Neurology, University of California, Los Angeles, USA.

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http://dx.doi.org/10.1001/archneur.62.7.1154DOI Listing
July 2005

Induction of cyclooxygenase-2 by anandamide in cerebral microvascular endothelium.

Microvasc Res 2005 Jan;69(1-2):28-35

Department of Biochemistry, 4-403 BSB, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.mvr.2005.02.001DOI Listing
January 2005

Overexpression of GSK3betaS9A resulted in tau hyperphosphorylation and morphology reminiscent of pretangle-like neurons in the brain of PDGSK3beta transgenic mice.

Transgenic Res 2004 Aug;13(4):385-96

Lilly Research Laboratories, Eli Lilly and company, Lilly corporate center, Drop code 0510, Indianapolis, Indiana 46285, USA.

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http://dx.doi.org/10.1023/b:trag.0000040039.44899.6fDOI Listing
August 2004

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

Nat Med 2004 Jul 6;10(7):696-703. Epub 2004 Jun 6.

Howard Hughes Medical Institute, Department of Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA.

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http://www.nature.com/doifinder/10.1038/nm1059
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July 2004

Human angiotensin II type-2 receptor inhibition of insulin-mediated ERK-2 activity via a G-protein coupled signaling pathway.

Brain Res Mol Brain Res 2004 Apr;124(1):62-9

Department of Cell and Structural Biology, University of Illinois, B107 Chemical and Life Science Building, 601 S. Goodwin Ave., Urbana, IL 61801, USA.

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http://dx.doi.org/10.1016/j.molbrainres.2004.02.006DOI Listing
April 2004

Metabolism of anandamide in cerebral microvascular endothelial cells.

Prostaglandins Other Lipid Mediat 2004 Jan;73(1-2):59-72

Department of Biochemistry, University of Iowa College of Medicine, 4-403 BSB, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.prostaglandins.2003.11.005DOI Listing
January 2004

Unilateral carrageenan injection into muscle or joint induces chronic bilateral hyperalgesia in rats.

Pain 2003 Aug;104(3):567-77

Graduate Program in Physical Therapy and Rehabilitation Science, University of Iowa, 100 Medical Education Building #1-252, Iowa, IA 52242-1190, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732018PMC
http://dx.doi.org/10.1016/s0304-3959(03)00114-3DOI Listing
August 2003

Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization.

Neuron 2003 Jun;38(5):747-58

Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/s0896-6273(03)00301-5DOI Listing
June 2003

Cyclooxygenase-2 expression and activity are induced by amyloid-beta 1-42 in brain derived cells.

Adv Exp Med Biol 2002 ;507:93-9

Department of Pathology, University of Iowa, 1046 Medical Laboratories, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1007/978-1-4615-0193-0_15DOI Listing
May 2003

Limb-girdle muscular dystrophy.

Curr Neurol Neurosci Rep 2003 Jan;3(1):78-85

Departments of Pediatrics and Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1007/s11910-003-0042-9DOI Listing
January 2003

Identification of a functional peroxisome proliferator-activated receptor response element in the rat catalase promoter.

Mol Endocrinol 2002 Dec;16(12):2793-801

Free Radical and Radiation Biology Program, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1210/me.2002-0020DOI Listing
December 2002

Effects of mutations in the highly conserved DRY motif on binding affinity, expression, and G-protein recruitment of the human angiotensin II type-2 receptor.

Brain Res Mol Brain Res 2002 Dec;109(1-2):161-7

Department of Cell and Structural Biology, University of Illinois, B107 Chemical and Life Science Building, 601 South Goodwin Avenue, Urbana, IL 61801, USA.

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http://dx.doi.org/10.1016/s0169-328x(02)00552-1DOI Listing
December 2002

The oxygen radical scavenger pyrrolidine dithiocarbamate enhances interleukin-1beta-induced cyclooxygenase-2 expression in cerebral microvascular smooth muscle cells.

Microvasc Res 2002 Nov;64(3):405-13

Department of Biochemistry, University of Iowa College of Medicine, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1006/mvre.2002.2431DOI Listing
November 2002