ArticleNeurology2022
Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.
Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01484678 (Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy), which is not on this map. Cited by 8 papers.
0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.8field-weighted citation impact, top 31% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Functional and structural pathologies in skeletal muscle of a rat model of Duchenne muscular dystrophy.Skeletal muscle · 2026Article
- Statistical Genetics ofGenes · 2025Article
- A model-informed clinical trial simulation tool with a graphical user interface for Duchenne muscular dystrophy.CPT: pharmacometrics & systems pharmacology · 2025Article
- Five multivariate Duchenne muscular dystrophy progression models bridging six-minute walk distance and MRI relaxometry of leg muscles.Journal of pharmacokinetics and pharmacodynamics · 2024Article
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.Journal of neuromuscular diseases · 2024Article
- Multivariate modeling of magnetic resonance biomarkers and clinical outcome measures for Duchenne muscular dystrophy clinical trials.CPT: pharmacometrics & systems pharmacology · 2023Article
- Extracellular Matrix Proteomics: TheBiomolecules · 2023Review
- Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Nature reviews. Neurology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 1 country.
Alison M BarnardFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
David W HammersFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
William T TriplettFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Sarah KimFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Sean C ForbesFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Rebecca J WillcocksFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Michael J DanielsFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Claudia R SenesacFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Donovan J LottFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Ishu ArpanFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
William D RooneyFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Richard T WangFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Stanley F NelsonFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
H Lee SweeneyFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Krista VandenborneFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville.
Glenn A WalterFrom the Department of Physical Therapy (A.M.B., W.T.T., S.C.F., R.J.W., C.R.S., D.J.L., K.V.) Pharmacology and Therapeutics (D.W.H., H.L.S.), University of Florida, Gainesville; Center for Pharmacometrics and Systems Pharmacology (S.K.), Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando; Department of Statistics (M.J.D.), University of Florida, Gainesville; Department of Neurology (I.A.), Oregon Health & Science University, Portland; Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; Department of Human Genetics (R.T.W., S.F.N.), University of California Los Angeles, CA; and Department of Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville. glennw@ufl.edu.
University of Florida · USOregon Health & Science University · USUniversity of California, Los Angeles · USAdvanced Imaging Research (United States) · US
Funding
Training and education CoreU54AR052646 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MCNALLY, ELIZABETH M, SWEENEY, H LEE · 2005 to 2020
$24.1MMagnetic Resonance Imaging and Biomarkers for Muscular DystropyR01AR056973 · NIAMS · UNIVERSITY OF FLORIDA · PI VANDENBORNE, KRISTA H · 2010 to 2024
$20.2MRehabilitation Research Career Development ProgramK12HD055929 · NICHD · UNIVERSITY OF TEXAS MED BR GALVESTON · PI BROWN, DAVID A · 2007 to 2021
$11.7MUnderstanding and Improving Therapies for the Muscular Dystrophies through Noninvasive BiomarkersP50AR052646 · NIAMS · UNIVERSITY OF FLORIDA · PI WALTER, GLENN · 2021 to 2024
$6.2MTraining In Rehabilitation and Neuromuscular PlasticityT32HD043730 · NICHD · UNIVERSITY OF FLORIDA · PI DAVID D FULLER · 2003 to 2026
$5.3MBreathing Research and Therapeutics (BREATHE)T32HL134621 · NHLBI · UNIVERSITY OF FLORIDA · PI Gordon S. Mitchell · 2017 to 2026
$3.4MA Prisma Upgrade for the OHSU Advanced Imaging Research Center 3T MRI InstrumentS10OD021701 · OD · OREGON HEALTH & SCIENCE UNIVERSITY · PI ROONEY, WILLIAM D · 2016 to 2016
$1.6MThe Relationship between Genomic Variants and MRI/MRS Markers in DMDR01AR065943 · NIAMS · UNIVERSITY OF FLORIDA · PI WALTER, GLENN · 2013 to 2015
$998kA High-Performance Computing System for Advanced ImagingS10OD018224 · OD · OREGON HEALTH & SCIENCE UNIVERSITY · PI ROONEY, WILLIAM D · 2014 to 2014
$222kNHLBI NIH HHS T32 HL134621NIAMS NIH HHS P50 AR052646NIAMS NIH HHS R01 AR056973NIAMS NIH HHS R01 AR065943NIAMS NIH HHS U54 AR052646NICHD NIH HHS K12 HD055929NIH HHS S10 OD018224NIH HHS S10 OD021701
Abstract
BACKGROUND AND
objectivesDuchenne muscular dystrophy (DMD) is a progressive muscle degenerative disorder with a well-characterized disease phenotype but considerable interindividual heterogeneity that is not well understood. The aim of this study was to evaluate the effects of dystrophin variations and genetic modifiers of DMD on rate and age of muscle replacement by fat.
methodsOne hundred seventy-five corticosteroid treated participants from the ImagingDMD natural history study underwent repeated magnetic resonance spectroscopy (MRS) of the vastus lateralis (VL) and soleus (SOL) to determine muscle fat fraction (FF). MRS was performed annually in most instances; however, some individuals had additional visits at 3 or 6 monthss intervals. FF changes over time were modeled using nonlinear mixed effects to estimate disease trajectories based on the age that the VL or SOL reached half-maximum change in FF (mu) and the time required for FF change (sigma). Computed mu and sigma values were evaluated for dystrophin variations that have demonstrated the ability to lead to a mild phenotype as well as compared between different genetic polymorphism groups.
resultsParticipants with dystrophin gene deletions amenable to exon 8 skipping (n = 4) had minimal increases in SOL FF and had an increase in VL mu value by 4.4 years compared with a reference cohort ( DISCUSSION: The results of this study link the historically mild phenotypes seen in individuals amenable to exon 8 skipping and with certain nonsense variations with alterations in trajectories of lower extremity muscle replacement by fat.
Indexed as
DystrophinMuscular Dystrophy, DuchenneDisease ProgressionExonsHumansMagnetic Resonance ImagingDystrophin
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
NCT01484678ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.