Publications by authors named "Katherine D Mathews"

82 Publications

The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9.

Muscle Nerve 2021 Jan 27. Epub 2021 Jan 27.

Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

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January 2021

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.

Neurology 2021 02 21;96(7):e1054-e1062. Epub 2020 Dec 21.

From the Departments of Pathology (A.R., A.D.B., S.A.M.) and Pediatrics and Neurology (A.R., K.D.M.), Carver College of Medicine, The University of Iowa, Iowa City.

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February 2021

Combination molecular therapies for spinal muscular atrophy: How much is enough?

Muscle Nerve 2021 Mar 23;63(3):279-281. Epub 2020 Nov 23.

Departments of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, Texas, USA.

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March 2021

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.

Muscle Nerve 2020 11 10;62(5):626-632. Epub 2020 Sep 10.

Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

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November 2020

Motor outcome measures in patients with mutations: A longitudinal follow-up.

Neurology 2020 10 6;95(15):e2131-e2139. Epub 2020 Aug 6.

From the Department of Pediatrics (A.M.G., C.M.S., C.D.C., K.D.M.) and Center for Disabilities and Development (S.R.H.M., K.M.L., K.S.L.), University of Iowa Hospitals and Clinics; and Department of Biostatistics (M.B.Z.), University of Iowa College of Public Health, Iowa City. C.D.C. is now affiliated with Washington University, St. Louis, MO.

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October 2020

Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).

Neuromuscul Disord 2020 03 25;30(3):213-218. Epub 2020 Jan 25.

Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, United States; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, United States.

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March 2020

Psychometric properties of the Friedreich Ataxia Rating Scale.

Neurol Genet 2019 Dec 29;5(6):371. Epub 2019 Oct 29.

Clinical Data Science GmbH (C.R.), Basel, Switzerland; Bruce Lefroy Centre for Genetic Health Research (L.A.C., M.B.D.), Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics (L.A.C., M.B.D.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (S.H.S.), McKnight Brain Institute, Room, Gainesville, FL; University of Minnesota (K.B.); University of Chicago (C.M.G.); Ohio State University (J.C.H.); Divisions of Neurology and Clinical and Metabolic Genetics (G.Y.), Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada Hospital; University of Rochester (B.R.); University of Iowa (K.D.M.); Emory University (G.W.); University of South Florida (T.Z.); Friedreich's Ataxia Research Alliance (S.P.), Downingtown, PA; and Division of Neurology (D.R.L.), Children's Hospital of Philadelphia.

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December 2019

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.

J Neurol Sci 2020 Mar 24;410:116642. Epub 2019 Dec 24.

Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of America. Electronic address:

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March 2020

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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April 2019

Needs management in families affected by childhood-onset dystrophinopathies.

SAGE Open Med 2019 2;7:2050312119834470. Epub 2019 Mar 2.

Department of Neurology, University of Rochester, Rochester, NY, USA.

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March 2019

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

Am J Hum Genet 2019 03 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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March 2019

Use of bone age for evaluating bone density in patients with Duchenne muscular dystrophy: A preliminary report.

Muscle Nerve 2019 04 24;59(4):422-425. Epub 2019 Jan 24.

Department of Medicine, University of Iowa, Iowa City, Iowa, USA.

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April 2019

Descriptive Phenotype of Obsessive Compulsive Symptoms in Males With Duchenne Muscular Dystrophy.

J Child Neurol 2018 08 20;33(9):572-579. Epub 2018 May 20.

3 Departments of Pediatrics and Neurology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.

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August 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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July 2018

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

J Child Neurol 2018 05 2;33(6):397-404. Epub 2018 Apr 2.

1 Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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May 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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January 2018

Illness-associated muscle weakness in dystroglycanopathies.

Neurology 2017 Dec 3;89(23):2374-2380. Epub 2017 Nov 3.

From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City.

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December 2017