Publications by authors named "Russell Butterfield"

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Heart Transplantation and Ventricular Assist Device in Duchenne Muscular Dystrophy: A New Era.
David N Rosenthal, Antonio Amodeo, Russell J Butterfield, Ryan Butts, Stephen Chrzanowski

Pediatr Transplant· January 2026

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A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy.
Thomas O Crawford, Laurent Servais, Eugenio Mercuri, Heike Kölbel, Nancy Kuntz, Russell J Butterfield

Expert Rev Neurother· November 2025

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RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.
Robert G Lewis, John M O'Shea, Lucilla Pizzo, Ting Wen, Makenzie L Fulmer, Russell J Butterfield

BMC Med Genomics· November 2025

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Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.
Elizabeth G Ames, Nicholas A Borja, Russell J Butterfield, Dustin R Donald, Jeanine R Jarnes

Mol Genet Metab· October 2025

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Russell J Butterfield

Brain· September 2025

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Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial.
Sarah P Sherlock, Daniel I Levy, Avery McIntosh, Perry B Shieh, Edward C Smith, Russell J Butterfield

Mol Ther· September 2025

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Complement activation in a phase Ib study of fordadistrogene movaparvovec for Duchenne muscular dystrophy.
Barry J Byrne, Russell J Butterfield, Perry B Shieh, Edward C Smith, Christoph Licht

Mol Ther· September 2025

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BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Rotem Orbach, Nunziata Maio, Russell J Butterfield, A Reghan Foley, Sarah Silverstein

Ann Clin Transl Neurol· September 2025

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Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial.
Thomas O Crawford, Laurent Servais, Eugenio Mercuri, Heike Kölbel, Nancy Kuntz, Russell J Butterfield

Lancet Neurol· September 2025

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Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy.
Jodi M Wolff, Nora Capocci, Evrim Atas, Diana X Bharucha-Goebel, John F Brandsema, Russell J Butterfield

Neuromuscul Disord· September 2025

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AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial.
Russell J Butterfield, Perry B Shieh, Huihua Li, Michael Binks, Tara G McDonnell

Nat Med· August 2025

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Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee.
Maryam Oskoui, Tracie Anne Caller, Julie Parsons, Laurent Servais, Russell J Butterfield

Neurology· August 2025

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Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee.
Maryam Oskoui, Tracie Anne Caller, Julie A Parsons, Laurent Servais, Russell J Butterfield

Neurology· June 2025

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Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy.
Leo H Wang, Maya N Hatch, Michael P McDermott, William B Martens, Katy Eichinger, Russell J Butterfield

Neuromuscul Disord· March 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, Russell J Butterfield

Neuromuscul Disord· January 2025

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Reductions in functional muscle mass and ability to ambulate in Duchenne muscular dystrophy from ages 4 to 24 years.
William J Evans, Marc Hellerstein, Russell J Butterfield, Edward Smith, Michela Guglieri

J Physiol· October 2024

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Subacute liver injury in two young infants following gene replacement therapy for spinal muscular atrophy.
Cassie Ables, Catalina Jaramillo, E Lynne Wood, Sara Stern, Mouied Alashari, Russell J Butterfield

Mol Ther Methods Clin Dev· September 2024

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A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.
Kristen N Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Russell J Butterfield

Int J Neonatal Screen· July 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

J Neuromuscul Dis· May 2024

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Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni, Russell J Butterfield

Int J Neonatal Screen· April 2024

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Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.
Namita Patel, Kiera N Berggren, Man Hung, Kameron Bates, Melissa M Dixon, Russell J Butterfield

Neurology· March 2024

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The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Russell J Butterfield

medRxiv· March 2024

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Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Richard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, Jan L de Bleecker, Ludo van der Pol

Brain· February 2024

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Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.
Russell J Butterfield, Diane M Dunn, Brett Duval, Sarah Moldt, Robert B Weiss

Genome Res· September 2023

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Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Bertini, Wuh-Liang Hwu, Russell J Butterfield

Muscle Nerve· August 2023

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