Katherine D Mathews

Katherine D Mathews

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Katherine D Mathews

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

J Neurol Sci 2019 Dec 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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http://dx.doi.org/10.1016/j.jns.2019.116642DOI Listing
December 2019

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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http://dx.doi.org/10.1212/NXG.0000000000000371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927357PMC
December 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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http://dx.doi.org/10.1002/mus.26413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417931PMC
April 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 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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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

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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http://dx.doi.org/10.1177/2050312119834470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399767PMC
March 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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http://dx.doi.org/10.1177/0883073818774439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027593PMC
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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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

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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http://dx.doi.org/10.1177/0883073818764941DOI Listing
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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http://dx.doi.org/10.1002/mus.26083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057846PMC
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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http://dx.doi.org/10.1212/WNL.0000000000004720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719925PMC
December 2017

Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.

J Child Neurol 2017 02 22;32(2):204-209. Epub 2016 Nov 22.

1 Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1177/0883073816677680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464953PMC
February 2017

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

Neurology 2017 Feb 13;88(7):623-629. Epub 2017 Jan 13.

From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.

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http://dx.doi.org/10.1212/WNL.0000000000003609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317381PMC
February 2017

Prevalence and bother of patient-reported lower urinary tract symptoms in the muscular dystrophies.

J Pediatr Urol 2016 Dec 12;12(6):398.e1-398.e4. Epub 2016 Jul 12.

Department of Urology, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jpurol.2016.04.051DOI Listing
December 2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

J Child Neurol 2016 08 12;31(9):1161-5. Epub 2016 Apr 12.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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http://dx.doi.org/10.1177/0883073816643408DOI Listing
August 2016

Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network.

J Dev Behav Pediatr 2015 Jul-Aug;36(6):455-63

*Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA; †Departments of Pediatrics and Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA; ‡National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA; §Department of Physical Medicine and Rehabilitation, University of Colorado School of Medicine and Children's Hospital Colorado, Denver, CO; ‖Department of Biostatistics, College of Public Health, Fairbanks School of Public Health and School of Medicine, Indiana University, Indianapolis, IN.

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http://dx.doi.org/10.1097/DBP.0000000000000177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497929PMC
April 2016

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Authors:
Ted M Burns Gordon A Smith Jeffrey A Allen Anthony A Amato W David Arnold Richard Barohn Michael Benatar Shawn J Bird Mark Bromberg Nizar Chahin Emma Ciafaloni Jeffrey A Cohen Andrea Corse Brian A Crum William S David Elliot Dimberg Eduardo A De Sousa Peter D Donofrio P James B Dyck Andrew G Engel Erik R Ensrud Mark Ferrante Miriam Freimer Karissa L Gable Summer Gibson James M Gilchrist Jonathan M Goldstein Clifton L Gooch Brent P Goodman Dmitri Gorelov Sidney M Gospe Namita A Goyal Amanda C Guidon Jeffrey T Guptill Laurie Gutmann Ludwig Gutmann Kelly Gwathmey Yadollah Harati C Michel Harper Michael K Hehir Lisa D Hobson-Webb James F Howard Carlayne E Jackson Nicholas Johnson Sarah M Jones Vern C Juel Henry J Kaminski Chafic Karam Kathleen D Kennelly Sami Khella Julie Khoury John C Kincaid John T Kissel Noah Kolb David Lacomis Shafeeq Ladha Daniel Larriviere Richard A Lewis Yuebing Li William J Litchy Eric Logigian Jau-Shin Lou Daniel J L MacGowen Ricardo Maselli Janice M Massey Michelle L Mauermann Katherine D Mathews Matthew N Meriggioli Robert G Miller Joon-Shik Moon Tahseen Mozaffar Sharon P Nations Richard J Nowak Lyle W Ostrow Robert M Pascuzzi Amanda Peltier Katherine Ruzhansky David P Richman Mark A Ross Devon I Rubin James A Russell George M Sachs Mohammad Kian Salajegheh David S Saperstein Stephen Scelsa Duygu Selcen Aziz Shaibani Perry B Shieh Nicholas J Silvestri J Rob Singleton Benn E Smith Yuen T So Guillermo Solorzano Eric J Sorenson Jayashri Srinivasen Jinny Tavee Rabi Tawil Pariwat Thaisetthawatkul Charles Thornton Jaya Trivedi Steven Vernino Annabel K Wang Tyler A Webb Michael D Weiss Anthony J Windebank Gil I Wolfe

Muscle Nerve 2016 Feb 21;53(2):165-8. Epub 2015 Dec 21.

Department of Neurology, University of Buffalo, Buffalo, New York, USA.

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http://dx.doi.org/10.1002/mus.25009DOI Listing
February 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

Frataxin levels in peripheral tissue in Friedreich ataxia.

Ann Clin Transl Neurol 2015 Aug 1;2(8):831-42. Epub 2015 Jul 1.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104.

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http://dx.doi.org/10.1002/acn3.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554444PMC
August 2015

The boy who lost his smile: facioscapulohumeral dystrophy in the head and neck.

Ann Otol Rhinol Laryngol 2015 Feb 24;124(2):148-52. Epub 2014 Jul 24.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Division of Plastic Surgery and Cosmetic Services, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA

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http://dx.doi.org/10.1177/0003489414543071DOI Listing
February 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

Recognition and management of motor delay and muscle weakness in children.

Am Fam Physician 2015 Jan;91(1):38-44

University of Iowa Carver College of Medicine, Iowa City, IA, USA.

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January 2015

A 16-week-old infant with failure to thrive and hypotonia.

Clin Pediatr (Phila) 2013 Nov 10;52(11):1075-8. Epub 2013 Sep 10.

1University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1177/0009922813502125DOI Listing
November 2013

Urological manifestations of Duchenne muscular dystrophy.

J Urol 2013 Oct 25;190(4 Suppl):1523-8. Epub 2013 Jan 25.

Department of Urology, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.juro.2013.01.059DOI Listing
October 2013

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.

Neurology 2013 Oct 16;81(16):1374-7. Epub 2013 Sep 16.

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.

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http://dx.doi.org/10.1212/WNL.0b013e3182a84140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806909PMC
October 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet J Rare Dis 2013 Aug 6;8:117. Epub 2013 Aug 6.

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.

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http://dx.doi.org/10.1186/1750-1172-8-117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751094PMC
August 2013

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Ann Neurol 2013 Apr 20;73(4):481-8. Epub 2013 Feb 20.

Center for Gene Therapy, Nationwide Children' Hospital, Columbus, OH; Department of Pediatrics, Ohio State University, Columbus, OH; Department of Neurology, Ohio State University, Columbus, OH.

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http://dx.doi.org/10.1002/ana.23819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106425PMC
April 2013

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

Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia.

Am J Cardiol 2012 Feb 10;109(3):401-5. Epub 2011 Nov 10.

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

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http://dx.doi.org/10.1016/j.amjcard.2011.09.025DOI Listing
February 2012

Mortality in Friedreich ataxia.

J Neurol Sci 2011 Aug 8;307(1-2):46-9. Epub 2011 Jun 8.

Department of Neurology, University of Pennsylvania Medical School, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X110028
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http://dx.doi.org/10.1016/j.jns.2011.05.023DOI Listing
August 2011

Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy.

J Child Neurol 2010 Nov 5;25(11):1319-24. Epub 2010 Mar 5.

Department of Physical Medicine & Rehabilitation, University of Colorado School of Medicine and The Children's Hospital, Denver, CO 80045, USA.

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http://dx.doi.org/10.1177/0883073810362762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882203PMC
November 2010

Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.

J Am Soc Echocardiogr 2010 Aug 19;23(8):848-53. Epub 2010 Jun 19.

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.

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http://dx.doi.org/10.1016/j.echo.2010.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156088PMC
August 2010

Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity.

J AAPOS 2010 Jun;14(3):240-3

Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1016/j.jaapos.2010.03.006DOI Listing
June 2010

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

J Child Neurol 2009 Apr 12;24(4):425-30. Epub 2008 Dec 12.

Department of Pediatrics, Steele Research Center, University of Arizona College of Medicine, 1501 N. Campbell Avenue, Tucson, Arizona 85724-5073, USA.

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http://dx.doi.org/10.1177/0883073808324770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882193PMC
April 2009

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.

Hum Mutat 2006 Apr;27(4):388

Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37027-0275, USA.

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http://dx.doi.org/10.1002/humu.9418DOI Listing
April 2006

The sarcolemma in the Large(myd) mouse.

Muscle Nerve 2004 Nov;30(5):585-95

Department of Physiology, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, Maryland 21201, USA.

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http://dx.doi.org/10.1002/mus.20146DOI Listing
November 2004

Muscular dystrophy overview: genetics and diagnosis.

Neurol Clin 2003 Nov;21(4):795-816

Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52240, USA.

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http://dx.doi.org/10.1016/s0733-8619(03)00065-3DOI Listing
November 2003

Hereditary causes of chorea in childhood.

Semin Pediatr Neurol 2003 Mar;10(1):20-5

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

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http://dx.doi.org/10.1016/s1071-9091(02)00005-0DOI Listing
March 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

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Nat Genet 2002 Dec 4;32(4):661-5. Epub 2002 Nov 4.

Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.

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http://www.nature.com/articles/ng1040
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http://dx.doi.org/10.1038/ng1040DOI Listing
December 2002

Limb-girdle muscular dystrophies.

Adv Neurol 2002 ;88:273-91

Department of Physiology and Biophysics and Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA.

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September 2002

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

Nature 2002 Jul;418(6896):417-22

Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242-1101, USA.

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http://dx.doi.org/10.1038/nature00837DOI Listing
July 2002