Russell J. Butterfield - Primary Childrens Hosp, Univ Utah

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论文共 118 篇作者统计合作学者相似作者

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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,Rotem Orbach, Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini, Giacomo Comi, Monique Ryan,Denise McDonald, Pinki Munot,Grace Yoon, Edward Leung,Erika Finanger, Meganne E Leach, James Collins,Cuixia Tian,Payam Mohassel, Sarah B Neuhaus,Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak, Sidney M Gospe,Vikram Bhise, Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata, Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa, Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou, Sara Aguti, Yoram Nevo,Ichizo Nishino, Cecilia Jimenez-Mallebrera,Shireen R Lamandé, Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni, Carsten G Bönnemann

Brain a journal of neurology (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 Mathews,Jonathan Suhl,Kristin M. Conway,Amy Moore, Joyce T. Alese,Russell J. Butterfield,Paul A. Romitti

NEUROMUSCULAR DISORDERS (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, Jyoti Bharadwaj, Sean C Rose, Benjamin Tolchin, Katie Puskala Hamel, Heather M Silsbee,James J Dowling

Neurologyno. 11 (2025): e213604-e213604

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The recurrent deep intronic pseudoexon-inducing variant COL6A1 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,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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Dominantly Pathogenic Cis D4Z4 Repeat Duplications in FSHD

Richard Lemmers,Russell Butterfield, Patrick van der Vliet,Jan De Bleecker,W. L. Van der Pol,Corrie Erasmus,Marc D'Hooghe,Kristof Verhoeven,Judit Balog,Baziel van Engelen,Jeffrey Statland,Enrico Bugiardini,Nienke van der Stoep,Evangelista Teresinha,Chiara Marini Bettolo,Peter Van den Bergh,Rabi Tawil,Nicol Voermans,John Vissing, Bob Weiss,Silvere M. van der Maarel

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 602-602

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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, Natalie Katz, Brittany Nave, Lauren Branigan, Stephanie Thera, Kalista L. Vordos, Laura Behar,Marianela Schiava,Meredith K. James,Tyler Field,Hussein Mohammed,Mahalakshmi Shankaran

JOURNAL OF PHYSIOLOGY-LONDONno. 19 (2024): 4929-4939

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O20: Beyond the Genome: RNA Sequencing Resolves Unique Diagnostic Challenges

Robert Lewis,Makenzie Fulmer, Jian Zhao,Lucilla Pizzo,Ting Wen,John O'Shea,Thomas Nicholas,Steven Boyden,David Viskochil,Nicola Longo,Ashley Andrews, Erin Baldwin,Matt Velinder,Russell Butterfield,Karin Dent,Kourtney Santucci,Austin Larson,Rong Mao,Lorenzo Botto,Pinar Bayrak-Toydemir

Genetics in Medicine Open (2024): 101470

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Neurologic and Muscular Disease: Clubfeet and Lack of Facial Expression

Tara Newcomb,Russell J. Butterfield,Lynne M. Kerr

Genomics in the Clinicpp.451-453, (2024)

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ADAR Mediated RNA Editing for Treatment of Collagen VI Related Muscular Dystrophy

Russell J. Butterfield, Manshu Tang

MOLECULAR THERAPYno. 4 (2024): 353-353

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