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K. Mathews · SciRah

Researcher profile · Semantic Scholar

K. Mathews

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K. Mathews — researcher profile on SciRah

h-index: 42
Works: 162
Citations: 7,034

Most-cited papers

Diagnostic approach to the congenital muscular dystrophies
C. Bonnemann, Ching H. Wang, S. Quijano-Roy, N. Deconinck +10 more
2014Neuromuscular Disorders320 citations Open access
Semantic Scholar
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
H. Gonorazky, S. Naumenko, Arun K. Ramani, V. Nelakuditi +14 more
2019American Journal of Human Genetics269 citations Open access
Semantic Scholar
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Akemi J. Tanaka, M. Cho, F. Millan, J. Juusola +19 more
2015American Journal of Human Genetics145 citations Open access
Semantic Scholar
Progression of Friedreich ataxia: quantitative characterization over 5 years
Maya Patel, Charles J. Isaacs, Lauren A. Seyer, K. Brigatti +17 more
2016Annals of Clinical and Translational Neurology139 citations Open access
Semantic Scholar
Genotype-phenotype correlations in recessive RYR1-related myopathies
K. Amburgey, A. Bailey, Jean H. Hwang, M. Tarnopolsky +9 more
2013Orphanet Journal of Rare Diseases114 citations Open access
Semantic Scholar
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
M. Minnerop, D. Kurzwelly, H. Wagner, A. Soehn +52 more
2017Brain : a journal of neurology105 citations Open access
Semantic Scholar
Frataxin levels in peripheral tissue in Friedreich ataxia
Michael P. Lazaropoulos, Yi-Na Dong, Elisia M. Clark, N. Greeley +16 more
2015Annals of Clinical and Translational Neurology79 citations Open access
Semantic Scholar
Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia.
Sean R. Regner, Sarah J. Lagedrost, T. Plappert, E. K. Paulsen +8 more
2012American Journal of Cardiology69 citations
Semantic Scholar
Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000–2015
Shiny Thomas, K. Conway, O. Fapo, N. Street +7 more
2022Muscle and Nerve63 citations Open access
Semantic Scholar
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic
A. Veerapandiyan, K. Wagner, S. Apkon, C. McDonald +11 more
2020Muscle and Nerve60 citations Open access
Semantic Scholar
Brain structure in juvenile-onset Huntington disease
Alexander Tereshchenko, V. Magnotta, E. Epping, K. Mathews +5 more
2019Neurology60 citations Open access
Semantic Scholar
Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy
Katie L. Lutz, L. Holte, S. Kliethermes, C. Stephan +1 more
2013Neurology60 citations Open access
Semantic Scholar
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency
A. Rebelo, D. Saade, C. Pereira, A. Farooq +9 more
2018Brain : a journal of neurology56 citations Open access
Semantic Scholar
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
C. Campbell, R. Barohn, E. Bertini, B. Chabrol +31 more
2020Journal of Comparative Effectiveness Research55 citations Open access
Semantic Scholar
Analysis of the visual system in Friedreich ataxia
Lauren A. Seyer, Kristin M. Galetta, James M. Wilson, Reiko E Sakai +13 more
2013Journal of Neurology54 citations
Semantic Scholar
Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence
Jessica K. Lee, A. Conrad, E. Epping, K. Mathews +3 more
2018EBioMedicine52 citations Open access
Semantic Scholar
Sex-Specific Effects of the Huntington Gene on Normal Neurodevelopment
Jessica K. Lee, Yue Ding, Amy L. Conrad, E. Cattaneo +10 more
2017Journal of Neuroscience Research52 citations Open access
Semantic Scholar
Bone density and alendronate effects in Duchenne Muscular Dystrophy patients
C. Houston, K. Mathews, A. Shibli-Rahhal
2014Muscle and Nerve50 citations
Semantic Scholar
Randomized, double‐blind, placebo‐controlled study of interferon‐γ 1b in Friedreich Ataxia
D. Lynch, Lauren A. Hauser, A. McCormick, McKenzie Wells +13 more
2019Annals of Clinical and Translational Neurology42 citations Open access
Semantic Scholar
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
E. Ciafaloni, Anil Kumar, Ke Liu, S. Pandya +8 more
2016Journal of Pediatric Rehabilitation Medicine38 citations Open access
Semantic Scholar
Neurobehavioral Concerns among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network
Kristin M. Conway, K. Mathews, P. Paramsothy, J. Oleszek +3 more
2015Journal of Developmental and Behavioral Pediatrics38 citations Open access
Semantic Scholar
Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy
M. Waldrop, S. Moore, K. Mathews, B. Darbro +19 more
2022Human Mutation35 citations Open access
Semantic Scholar
Spinal muscular atrophy care in the COVID‐19 pandemic era
A. Veerapandiyan, A. Connolly, R. Finkel, K. Arya +11 more
2020Muscle and Nerve34 citations Open access
Semantic Scholar
Descriptive phenotype of obsessive compulsive symptoms in males with Duchenne Muscular Dystrophy
Angela J. Lee, E. Buckingham, A. Kauer, K. Mathews
2018Journal of Child Neurology32 citations Open access
Semantic Scholar
Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources
N. Frishman, Kristin M. Conway, J. Andrews, J. Oleson +8 more
2017Health and Quality of Life Outcomes32 citations Open access
Semantic Scholar
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
L. Murphy, O. Schreiber-Katz, K. Rafferty, A. Robertson +14 more
2020Annals of Clinical and Translational Neurology31 citations Open access
Semantic Scholar
A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease.
A. Moser, E. Epping, P. Espe-Pfeifer, E. Martin +6 more
2017Neurodegenerative Disease Management31 citations Open access
Semantic Scholar
Natural History of Friedreich Ataxia
C. Rummey, L. Corben, M. Delatycki, G. Wilmot +13 more
2022Neurology29 citations Open access
Semantic Scholar
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial
R. Finkel, C. McDonald, H. L. Sweeney, E. Finanger +22 more
2021Journal of Neuromuscular Diseases26 citations Open access
Semantic Scholar
CLIA Laboratory Testing for Facioscapulohumeral Dystrophy
Autumn Rieken, A. Bossler, K. Mathews, S. Moore
2020Neurology25 citations Open access
Semantic Scholar
Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy
J. Statland, C. Campbell, U. Desai, C. Karam +25 more
2022Muscle and Nerve24 citations Open access
Semantic Scholar
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related
Eric M Libell, J. A. Richardson, Katie L. Lutz, B. Ng +7 more
2020Muscle and Nerve24 citations Open access
Semantic Scholar
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy
M. G. Otero, E. Tiongson, F. Diaz, K. Haude +17 more
2018Annals of Clinical and Translational Neurology23 citations Open access
Semantic Scholar
Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy
K. James, C. Cunniff, S. Apkon, K. Mathews +5 more
2015Journal of pediatric orthopedics23 citations
Semantic Scholar
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
Fatima Abdelfattah, A. Kariminejad, Anne-Karin Kahlert, P. Morrison +25 more
2020Human Mutation21 citations Open access
Semantic Scholar
Implementation of Duchenne Muscular Dystrophy Care Considerations
J. Andrews, Kristin M. Conway, C. Westfield, Christina J. Trout +7 more
2018Pediatrics21 citations
Semantic Scholar
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
C. Bachmann, Faiza Noreen, N. Voermans, Primo Schär +16 more
2019Human Mutation19 citations Open access
Semantic Scholar
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
Angela J. Lee, Karra A. Jones, R. Butterfield, Mary O. Cox +17 more
2019Neurology: Genetics18 citations Open access
Semantic Scholar
Uniparental disomy unveils a novel recessive mutation in POMT2
Brianna N. Brun, T. Willer, B. Darbro, H. Gonorazky +5 more
2018Neuromuscular Disorders18 citations Open access
Semantic Scholar
Longitudinal analysis of contrast acuity in Friedreich ataxia
A. Hamedani, Lauren A. Hauser, S. Perlman, K. Mathews +7 more
2018Neurology: Genetics18 citations Open access
Semantic Scholar
Recognition and management of motor delay and muscle weakness in children.
J. Lurio, H. Peay, K. Mathews
2015American Family Physician17 citations
Semantic Scholar
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia
D. Lynch, K. Mathews, S. Perlman, T. Zesiewicz +9 more
2022Journal of Neurology15 citations
Semantic Scholar
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network
P. Paramsothy, Yin-Ding Wang, Bo Cai, K. Conway +7 more
2022Neuromuscular Disorders14 citations Open access
Semantic Scholar
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study
Maya Patel, A. McCormick, Jaclyn G. Tamaroff, J. Dunn +15 more
2021Neurology: Genetics14 citations Open access
Semantic Scholar
Comparison of brain MRI findings with language and motor function in the dystroglycanopathies
Brianna N. Brun, S. Mockler, K. Laubscher, C. Stephan +5 more
2017Neurology13 citations Open access
Semantic Scholar
Prevalence and bother of patient-reported lower urinary tract symptoms in the muscular dystrophies.
Laura A. Bertrand, Eric J. Askeland, K. Mathews, B. Erickson +1 more
2016Journal of Pediatric Urology13 citations
Semantic Scholar
Urological manifestations of Duchenne muscular dystrophy.
Eric J. Askeland, Angela M. Arlen, B. Erickson, K. Mathews +1 more
2013Journal of Urology13 citations
Semantic Scholar
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)
Himali Jayakody, S. Zarei, Huy Nguyen, J. Dalton +9 more
2020Journal of Neuropathology and Experimental Neurology12 citations Open access
Semantic Scholar
The Outcomes and Experience of Pregnancy in Limb Girdle Muscular Dystrophy Type R9
Eric M Libell, Noelle C. Bowdler, C. Stephan, M. Zimmerman +2 more
2021Muscle and Nerve10 citations Open access
Semantic Scholar
Childhood activity on progression in limb girdle muscular dystrophy 2I
Brianna N. Brun, S. Mockler, K. Laubscher, C. Stephan +3 more
2016Journal of Child Neurology10 citations Open access
Semantic Scholar

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