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List of works by Katherine Mathews

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

scientific article published on 10 September 2013

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease

scientific article

A syntrophin gene maps to mouse chromosome 8 and is not the myodystrophy gene

scientific article published on 01 September 1995

Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet

scientific article

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

scientific article

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

scientific article published on 10 November 2011

Analysis of the visual system in Friedreich ataxia

scientific article published on 18 June 2013

Antioxidant use in Friedreich ataxia

scientific article published on 7 November 2007

Attention deficit hyperactivity disorder and neurocognitive correlates after childhood stroke

scientific article published in September 2003

Attention function after childhood stroke

scientific article

Bone density and alendronate effects in Duchenne muscular dystrophy patients

scientific article published on 10 February 2014

Börjeson-Forssman-Lehmann syndrome localization

scientific article published on 01 December 1989

Cerebral infarction complicating Fontan surgery for cyanotic congenital heart disease

scientific article published on 01 January 1986

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

scientific article

Clinical and genetic characterization of manifesting carriers of DMD mutations

scientific article

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

scientific article

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

scientific article

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

article

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

scientific article published on September 2008

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

scientific article published on 12 April 2016

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

scientific article published on 13 January 2017

Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

scientific article

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

scientific article published on 20 May 2018

Diagnostic approach to the congenital muscular dystrophies

scientific article

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

scientific article

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

scientific article

Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence.

scientific article published on 30 March 2018

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

scientific article

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

scientific article published on 01 May 2019

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy

scientific article published on 01 May 2000

Facial Weakness and Ophthalmoplegia in a 4-Day-Old Infant

scientific article published on 02 April 2017

Frataxin levels in peripheral tissue in Friedreich ataxia

scientific article

Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants

scientific article published on 29 June 2012

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

scientific article published on 27 August 2015

Genetic and Physical Mapping of a Voltage-Dependent Chloride Channel Gene to Human 4q32 and to Mouse 8

article

Genetic mapping near the myd locus on mouse chromosome 8

scientific article published on 01 April 1995

Genitourinary health in a population-based cohort of males with Duchenne and Becker Muscular dystrophies

scientific article published on 3 June 2015

Genotype-phenotype correlations in recessive RYR1-related myopathies

scientific article published on 06 August 2013

Health related quality of life measures in Friedreich Ataxia

scientific article published on 20 June 2008

Hereditary causes of chorea in childhood

scientific article

Hypertensive encephalopathy in childhood

scientific article published on 01 May 1996

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

scientific article published on 27 April 2017

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

scientific article

Illness-associated muscle weakness in dystroglycanopathies

scientific article published on 3 November 2017

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

scientific article published on 02 April 2018

Implementation of Duchenne Muscular Dystrophy Care Considerations

scientific article published on 20 June 2018

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.

scientific article published on March 2012

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

scientific article published on 20 December 2011

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy

scientific article

Limb-girdle muscular dystrophy

scientific article (publication date: 2003)

Limb-girdle muscular dystrophy in the United States

scientific article published on 01 October 2006

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

scientific article

Mortality in Friedreich ataxia

scientific article

Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q

scientific article published on 01 January 1995

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

scientific article

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy

scientific article published on September 2010

Muscular dystrophy overview: genetics and diagnosis

scientific article published on November 2003

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

scientific article published on 12 December 2008

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

scientific article

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

scientific article

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

scientific journal article

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

scientific article

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project

scientific article published in January 2018

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

scientific article

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

scientific article

Novel pathogenic variants causing dysarthria, ataxia, and sensory neuropathy

scientific article published on 09 November 2018

Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources

scientific article published on 10 February 2017

Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.

scientific article published in July 1995

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

scientific article

Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

scientific article

Prefrontal and executive attention network lesions and the development of attention-deficit/hyperactivity symptomatology

scientific article published in May 2005

Presentation, management and follow-up of Schilder's disease.

scientific article

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

scientific article

Prevalence of Duchenne and Becker muscular dystrophies in the United States

scientific article published on 16 February 2015

Progression of Friedreich ataxia: quantitative characterization over 5 years

scientific article published on 25 July 2016

Psychiatric disorders after childhood stroke

scientific article published in May 2002

Putamen lesions and the development of attention-deficit/hyperactivity symptomatology

scientific article

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

scientific article published on 29 March 2013

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.

scientific article

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

scientific article published on June 2010

Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy

scientific article published on 6 November 2014

Steroid therapy and cardiac function in Duchenne muscular dystrophy.

scientific article published in November 2005

The Ant1 gene maps near Klk3 on proximal mouse chromosome 8

scientific article published on 01 September 1996

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

scientific article published in May 1994

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

scientific article published on 24 July 2014

The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.

scientific article published in June 1997

The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology

scientific article published on November 2006

The sarcolemma in the Large(myd) mouse

scientific article published on 01 November 2004

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

scientific article published on 01 April 2006

Uniparental disomy unveils a novel recessive mutation in POMT2

scientific article published on 10 April 2018

Urologic and gastrointestinal symptoms in the dystroglycanopathies

scientific article

Urological manifestations of Duchenne muscular dystrophy

scientific article

Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy

scientific article published on 7 December 2011

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

scientific article published on 5 March 2010

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