Publications by authors named "Katherine D Mathews"

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Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
David R Lynch, Melanie P Chin, Martin B Delatycki, S H Subramony, Manuela Corti, J Chad Hoyle, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Katherine D Mathews

Ann Neurol· February 2021

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Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy.
Shannon N Kilburn, Shiny Thomas, Anne L Havlik, Katherine D Mathews, Natalie Street

Muscle Nerve· November 2025

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Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.
Matthew P Wicklund, Lindsay N Alfano, Nicholas E Johnson, Peter B Kang, Peter Marks, Katherine D Mathews

Neurol Clin Pract· October 2025

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279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024.
Jildou N Dijkstra, Bettina C Henzi, Katherine D Mathews, Corrie E Erasmus, Renatta Knox

Neuromuscul Disord· October 2025

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Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Jonathan Suhl, Kristin M Conway, Shiny Thomas, Sonja A Rasmussen, James F Howard, Katherine D Mathews

Muscle Nerve· September 2025

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Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Stephanie M Hunn, Lindsay N Alfano, Aileen Jones, Amanda Butler, Linda P Lowes, Katherine D Mathews

Ann Clin Transl Neurol· June 2025

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UDP-glucose dehydrogenase variants cause dystroglycanopathy.
Anna M Reelfs, Carrie M Stephan, Theresa M Czech, Mary O Cox, Soumya Joseph, Katherine D Mathews

Ann Clin Transl Neurol· June 2025

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Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy.
Kristin M Conway, Shiny Thomas, Tahereh Neyaz, Emma Ciafaloni, Joshua R Mann, Katherine D Mathews

Muscle Nerve· April 2025

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The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Zhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, Martin Paucar, Jasmaine Lee, Katherine D Mathews

Mov Disord· February 2025

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Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.
Lindsay N Alfano, Meredith K James, Kristine Grosfjeld Petersen, Karen Rudolf, John Vissing, Katherine D Mathews

Ann Clin Transl Neurol· February 2025

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Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network.
Katherine D Mathews, Jonathan Suhl, Kristin M Conway, Amy Moore, Joyce T Alese

Neuromuscul Disord· January 2025

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Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.
Stephen M Brown, Aparna S Ajjarapu, Divya Ramachandra, Laura Blasco-Pérez, Mar Costa-Roger, Katherine D Mathews

Ann Clin Transl Neurol· November 2024

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Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy.
Craig M Zaidman, Natalie L Goedeker, Amal A Aqul, Russell J Butterfield, Anne M Connolly, Katherine D Mathews

J Neuromuscul Dis· May 2024

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Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Eugenio Mercuri, Juan J Vilchez, Odile Boespflug-Tanguy, Craig M Zaidman, Jean K Mah, Katherine D Mathews

Lancet Neurol· April 2024

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The Influence of a Genetic Variant in on -Associated Skeletal Muscle Disease.
Nathaniel P Mohar, Efrem M Cox, Emily Adelizzi, Steven A Moore, Katherine D Mathews

Int J Mol Sci· April 2024

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Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact.
Michael R Cole, Christopher S Cooper, Eyad M Hanna, M Bridget Zimmerman, June Kinoshita, Katherine D Mathews

Muscle Nerve· March 2024

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Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Katherine D Mathews

Mov Disord· March 2024

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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D Mathews

BMC Neurol· March 2024

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Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
David R Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Katherine D Mathews

Ann Clin Transl Neurol· January 2024

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Prophylactic use of cardiac medications for delay of left ventricular dysfunction in Duchenne muscular dystrophy.
Kristin M Conway, Shiny Thomas, Emma Ciafaloni, Rabia S Khan, Joshua R Mann, Katherine D Mathews

Birth Defects Res· January 2024

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DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.
Jennifer G Andrews, Maureen Kelly Galindo, Shiny Thomas, Katherine D Mathews, Nedra Whitehead

J Clin Neuromuscul Dis· June 2023

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Pain interference and fatigue in limb-girdle muscular dystrophy R9.
Anna M Reelfs, Carrie M Stephan, Shelley R H Mockler, Katie M Laubscher, M Bridget Zimmerman, Katherine D Mathews

Neuromuscul Disord· June 2023

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Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.
Aparna Ajjarapu, Shawna M E Feely, Michael E Shy, Christina Trout, Stephan Zuchner, Katherine D Mathews

Case Rep Neurol· June 2023

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Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
David R Lynch, Katherine D Mathews, Susan Perlman, Theresa Zesiewicz, Sub Subramony

J Neurol· March 2023

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A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy.
Agathe Marcelot, Felipe Rodriguez-Tirado, Philippe Cuniasse, Mei-Ling Joiner, Simona Miron, Katherine D Mathews

Cells· March 2023

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Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
David R Lynch, Melanie P Chin, Sylvia Boesch, Martin B Delatycki, Paola Giunti, Katherine D Mathews

Mov Disord· February 2023

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