Katherine D Mathews

Summary

Affiliation: University of Iowa
Country: USA

Publications

  1. ncbi request reprint Limb-girdle muscular dystrophy
    Katherine D Mathews
    Departments of Pediatrics and Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Curr Neurol Neurosci Rep 3:78-85. 2003
  2. ncbi request reprint Muscular dystrophy overview: genetics and diagnosis
    Katherine D Mathews
    Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52240, USA
    Neurol Clin 21:795-816. 2003
  3. pmc Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy
    Katherine D Mathews
    Department of Pediatrics, Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA
    J Child Neurol 25:1098-102. 2010
  4. doi request reprint Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy
    Christopher Cunniff
    Department of Pediatrics, Steele Research Center, University of Arizona College of Medicine, 1501 N Campbell Avenue, Tucson, Arizona 85724 5073, USA
    J Child Neurol 24:425-30. 2009
  5. doi request reprint Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy
    Sarah K Nabukera
    Department of Epidemiology, The University of Iowa, Iowa City, IA, USA
    Am J Med Genet A 161:70-5. 2013
  6. doi request reprint Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity
    Susannah Q Longmuir
    Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    J AAPOS 14:240-3. 2010
  7. doi request reprint Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy
    Sarah K Nabukera
    Department of Epidemiology, The University of Iowa, Iowa City, IA 52242 5000, USA
    J Child Neurol 27:734-40. 2012
  8. pmc Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy
    Robert M Weiss
    University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317 1 GH, Iowa City, IA 52242, USA
    J Am Soc Echocardiogr 23:848-53. 2010
  9. ncbi request reprint Limb-girdle muscular dystrophies
    Federica Piccolo
    Department of Physiology and Biophysics and Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
    Adv Neurol 88:273-91. 2002
  10. ncbi request reprint Limb-girdle muscular dystrophy in the United States
    Steven A Moore
    University of Iowa, Iowa City, 52242, USA
    J Neuropathol Exp Neurol 65:995-1003. 2006

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Limb-girdle muscular dystrophy
    Katherine D Mathews
    Departments of Pediatrics and Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Curr Neurol Neurosci Rep 3:78-85. 2003
    ..For example, LGMD 2H appears to be due to mutations affecting the ubiquitin-proteasome pathway. A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing...
  2. ncbi request reprint Muscular dystrophy overview: genetics and diagnosis
    Katherine D Mathews
    Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52240, USA
    Neurol Clin 21:795-816. 2003
    ..These diagnostic advances accompany improved understanding of pathophysiology and pave the way for specific and curative treatments...
  3. pmc Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy
    Katherine D Mathews
    Department of Pediatrics, Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA
    J Child Neurol 25:1098-102. 2010
    ..These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009...
  4. doi request reprint Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy
    Christopher Cunniff
    Department of Pediatrics, Steele Research Center, University of Arizona College of Medicine, 1501 N Campbell Avenue, Tucson, Arizona 85724 5073, USA
    J Child Neurol 24:425-30. 2009
    ..7% of all patients and 10.4% with a DMD mutation). Point mutation analysis was performed in only 37 of 130 (28.5%) individuals with negative deletion and/or duplication testing...
  5. doi request reprint Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy
    Sarah K Nabukera
    Department of Epidemiology, The University of Iowa, Iowa City, IA, USA
    Am J Med Genet A 161:70-5. 2013
    ..These results suggest that about one in five mothers deliver a live birth subsequent to DBMD diagnosis in a male child. Maternal age and race/ethnicity were associated with this reproductive choice...
  6. doi request reprint Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity
    Susannah Q Longmuir
    Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    J AAPOS 14:240-3. 2010
    ..Exudative retinal detachment, retinal vessel irregularities on fluorescein angiography, and retinal vessel tortuosity have been found in association with FSHD...
  7. doi request reprint Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy
    Sarah K Nabukera
    Department of Epidemiology, The University of Iowa, Iowa City, IA 52242 5000, USA
    J Child Neurol 27:734-40. 2012
    ..These findings have implications for developing clinical care protocols and monitoring possible interactions between complementary and alternative medicine and conventional medical therapies...
  8. pmc Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy
    Robert M Weiss
    University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317 1 GH, Iowa City, IA 52242, USA
    J Am Soc Echocardiogr 23:848-53. 2010
    ..Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers...
  9. ncbi request reprint Limb-girdle muscular dystrophies
    Federica Piccolo
    Department of Physiology and Biophysics and Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
    Adv Neurol 88:273-91. 2002
  10. ncbi request reprint Limb-girdle muscular dystrophy in the United States
    Steven A Moore
    University of Iowa, Iowa City, 52242, USA
    J Neuropathol Exp Neurol 65:995-1003. 2006
    ..The most common LGMDs in the United States are calpainopathies, dysferlinopathies, sarcoglycanopathies, and dystroglycanopathies...
  11. pmc Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy
    Katie L Lutz
    From the University of Iowa Carver College of Medicine K L L, Department of Pediatrics L H, C S, K D M, Department of Communication Sciences and Disorders L H, College of Public Health S A K, and Department of Neurology K D M, University of Iowa, Iowa City
    Neurology 81:1374-7. 2013
    ..To describe the hearing loss in facioscapulohumeral muscular dystrophy (FSHD) and examine the relationship to genotype...
  12. doi request reprint Urological manifestations of Duchenne muscular dystrophy
    Eric J Askeland
    Department of Urology, University of Iowa, Iowa City, Iowa
    J Urol 190:1523-8. 2013
    ..To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date...
  13. pmc LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle
    George Dialynas
    Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 21:1544-56. 2012
    ....
  14. pmc Genotype-phenotype correlations in recessive RYR1-related myopathies
    Kimberly Amburgey
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    Orphanet J Rare Dis 8:117. 2013
    ..To date, no clear patterns have been identified in these recessive mutations, though no systematic examination has yet been performed...
  15. pmc Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
    Jamie M Eskuri
    The University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA
    J Peripher Nerv Syst 17:132-4. 2012
    ....
  16. ncbi request reprint Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
    Daniel E Michele
    Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242 1101, USA
    Nature 418:417-22. 2002
    ....
  17. pmc Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity
    Rishika A Pace
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria, Australia
    Ann Neurol 64:294-303. 2008
    ..Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes...
  18. ncbi request reprint The sarcolemma in the Large(myd) mouse
    Patrick W Reed
    Department of Physiology, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, Maryland 21201, USA
    Muscle Nerve 30:585-95. 2004
    ..Thus, the positioning of sarcolemmal proteins may have a profound effect on the health of skeletal muscle...
  19. ncbi request reprint Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome
    Leomar Y Ballester
    Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37027 0275, USA
    Hum Mutat 27:388. 2006
    ..C101R) exhibited impaired trafficking. Our results demonstrate functional consequences of two novel trafficking-competent KCNJ2 mutations associated with Andersen syndrome and expand our knowledge of allelic diversity in this disease...
  20. pmc Antioxidant use in Friedreich ataxia
    Lauren Myers
    Department of Neurology, University of Pennsylvania School of Medicine, USA
    J Neurol Sci 267:174-6. 2008
    ..This confirms that non-prescription antioxidant use represents a major confounder to formal trials of existing and novel agents for Friedreich ataxia...