Russell Butterfield, MD, PhD received his PhD in mammalian genetics, and medical degree from the University of Illinois. He completed his residency training in pediatric neurology at the University of Utah in June 2009. He is currently an Associate Professor in the Departments of Neurology and Pediatrics, after completing a fellowship in neuromuscular disorders sponsored by the Muscular Dystrophy Association. Dr. Butterfield is board certified in Neurology with special qualification in child neurology. Dr. Butterfield’s clinical interests include all types of neurogenetic and neuromuscular disorders with an emphasis on muscular dystrophies of childhood onset. His research interests are in understanding genetic aspects of these disorders. His current efforts are in characterization of genotype/phenotype relationships and molecular pathogenesis in collagen VI myopathies such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

Specialties

Board Certification

American Board of Pediatrics (Pediatrics) American Board of Psychiatry & Neurology (Special Qualification in Child Neurology)

Patient Rating

Rating: 4.8 out of 5

4.8 /5

( out of 11 reviews )

The patient rating score is an average of all responses on our patient experience survey. The rating averages scores for all questions about care from our providers.

The scale on which responses are measured is 1 to 5 with 5 being the best score.

Patient Comments

Patient comments are gathered from our patient experience survey and displayed in their entirety. For the convenience of our visitors, some patient comments have been translated from their original language into English while preserving their original meaning as accurately as possible. Patients are de-identified for confidentiality and patient privacy.

CLINICAL NEUROSCIENCES CENTER

Rating: 5 out of 5

He cares about your child's health and well-being and makes sure your child gets the best care to manage their condition.

CLINICAL NEUROSCIENCES CENTER

Rating: 5 out of 5

Courteous, informative, engaging beyond expectations to all three of us.

CLINICAL NEUROSCIENCES CENTER

Rating: 5 out of 5

Dr. Butterfield is the best. He's kind, patient, and thoughtful. He's also at the top of his field. If you have the opportunity be treated by him there is literally no one better in the world.

CLINICAL NEUROSCIENCES CENTER

Rating: 5 out of 5

love Butterfield. he is very knowledgable and a good doctor.

CLINICAL NEUROSCIENCES CENTER

Rating: 5 out of 5

Nice and caring

CLINICAL NEUROSCIENCES CENTER 1

Rating: 5 out of 5

Doctor Butterfield and Doctor Espinoza have been incredible to work with they are very knowledgeable and took time to help is understand what we are working with.

Board Certification and Academic Information

Academic Departments	Neurology -Professor Physical Therapy & Athletic Training -Adjunct Associate Professor Pediatrics -Professor
Academic Divisions	Neurology
Board Certification	American Board of Pediatrics (Pediatrics) American Board of Psychiatry & Neurology (Special Qualification in Child Neurology)

Education history

Undergraduate	Microbiology - Brigham Young University	B.S.
Doctoral Training	Immunogenetics - University of Illinois at Urbana-Champaign	Ph.D.
Professional Medical	Medicine - University of Illinois	M.D.
Internship	Pediatrics - University of Utah School of Medicine	Intern
Residency	Pediatrics - University of Utah School of Medicine	Resident
Residency	Pediatric Neurology - University of Utah School of Medicine	Resident
Fellowship	Neuromuscular disorders - University of Utah	Fellow

Selected Publications

Journal Article

De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W, NURTURE Study Group (2019). Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscular disorders, 29(11), 842-856. (Read full publication)
Wagner KR, Abdel-Hamid HZ, Mah JK, Campbell C, Guglieri M, Muntoni F, Takeshima Y, McDonald CM, Kostera-Pruszczyk A, Karachunski P, Butterfield RJ, Mercuri E, Fiorillo C, Bertini ES, Tian C, Statland J, Sadosky AB, Purohit VS, Sherlock SP, Palmer JP, Binks M, Charnas L, Marraffino S, Wong B (2020). Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy. Neuromuscular disorders, 30(6), 492-502. (Read full publication)
Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann C (2015). Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Human mutation, 36(1), 48-56. (Read full publication)
Grow EJ, Weaver BD, Smith CM, Guo J, Stein P, Shadle SC, Hendrickson PG, Johnson NE, Butterfield RJ, Menafra R, Kloet SL, van der Maarel SM, Williams CJ, Cairns B (2021). p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models. Nature genetics, 53(8), 1207-1220. (Read full publication)
Jalali A, Rothwell E, Botkin JR, Anderson RA, Butterfield RJ, Nelson R (2020). Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy. The Journal of pediatrics, 227, 274-280.e2. (Read full publication)
Pucillo EM, Mcintyre MM, Pautler M, Hung M, Bounsanga J, Voss MW, Hayes H, Dibella DL, Trujillo C, Dixon M, Butterfield RJ, Johnson N (2018). Modified dynamic gait index and limits of stability in myotonic dystrophy type 1. Muscle & nerve, 58(5), 694-699. (Read full publication)
Veerapandiyan A, Connolly AM, Finkel RS, Arya K, Mathews KD, Smith EC, Castro D, Butterfield RJ, Parsons JA, Servais L, Kuntz N, Rao VK, Brandsema JF, Mercuri E, Ciafaloni (2020). Spinal muscular atrophy care in the COVID-19 pandemic era. Muscle & nerve, 62(1), 46-49. (Read full publication)
Veerapandiyan A, Wagner KR, Apkon S, McDonald CM, Mathews KD, Parsons JA, Wong BL, Eichinger K, Shieh PB, Butterfield RJ, Rao VK, Smith EC, Proud CM, Connolly AM, Ciafaloni (2020). The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic. Muscle & nerve, 62(1), 41-45. (Read full publication)
Haber G, Conway KM, Paramsothy P, Roy A, Rogers H, Ling X, Kozauer N, Street N, Romitti PA, Fox DJ, Phan HC, Matthews D, Ciafaloni E, Oleszek J, James KA, Galindo M, Whitehead N, Johnson N, Butterfield RJ, Pandya S, Venkatesh S, Bhattaram V (2021). Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy. Muscle & nerve, 63(2), 181-191. (Read full publication)
Johnson NE, Butterfield RJ, Mayne K, Newcomb T, Imburgia C, Dunn D, Duval B, Feldkamp ML, Weiss R (2021). Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program. Neurology, 96(7), e1045-e1053. (Read full publication)
Butterfield R (2021). Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency. Seminars in pediatric neurology, 38, 100899. (Read full publication)
LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R, ReSolve Investigators and the FSHD CTRN18 (2019). Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC neurology, 19(1), 224. (Read full publication)
Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, Connolly AM, Mathews K (2020). Medical management of muscle weakness in Duchenne muscular dystrophy. PloS one, 15(10), e0240687. (Read full publication)
Butterfield R (2019). Congenital Muscular Dystrophy and Congenital Myopathy. Continuum (Minneapolis, Minn.), 25(6), 1640-1661. (Read full publication)
Butterfield RJ, Imburgia C, Mayne K, Newcomb T, Dunn DM, Duval B, Feldkamp ML, Johnson NE, Weiss R (2021). High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis. Molecular genetics & genomic medicine, 9(4), e1619. (Read full publication)
Mathews KD, Conway KM, Gedlinske AM, Johnson N, Street N, Butterfield RJ, Hung M, Ciafaloni E, Romitti P (2021). Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Children (Basel, Switzerland), 8(10), (Read full publication)
Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bönnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews K (2019). Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Neurology. Genetics, 5(2), e315. (Read full publication)
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, COL6A1 Intron 11 Study Group., Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann C (2019). A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI insight, 4(6), (Read full publication)
Clark EB, Butterfield RJ, Filloux FM, Bonkowsky J (2019). Development, Implementation, and Use of a Neurology Therapeutics Committee. Child neurology open, 6, 2329048X19830473. (Read full publication)
Butterfield RJ, Krikov S, Conway KM, Johnson N, Matthews D, Phan H, Cai B, Paramsothy P, Thomas S, Feldkamp M (2022). Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne Muscular Dystrophy from MD STARnet. Muscle & nerve, 66, 15-23. (Read full publication)
Conway KM, Gedlinske A, Mathews KD, Perlman S, Johnson N, Butterfield R, Hung M, Bounsanga J, Matthews D, Oleszek J, Romitti P (2022). A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Muscle & nerve, 65(2), 193-202. (Read full publication)
Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan K (2022). Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Human mutation, 43, 511-528. (Read full publication)
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang (2022). Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA, 327(15), 1456-1468. (Read full publication)
Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie K (2022). Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle & nerve, 66, 50-62. (Read full publication)
Sherlock SP, Palmer J, Wagner KR, Abdel-Hamid HZ, Bertini E, Tian C, Mah JK, Kostera-Pruszczyk A, Muntoni F, Guglieri M, Brandsema JF, Mercuri E, Butterfield RJ, McDonald CM, Charnas L, Marraffino (2022). Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. Journal of neurology, 269, 4421-4435. (Read full publication)
Thomas FP, Brannagan TH 3rd, Butterfield RJ, Desai U, Habib AA, Herrmann DN, Eichinger KJ, Johnson-Cl NE, Karam C, Pestronk A, Quinn C, Shy ME, Statland JM, Subramony SH, Walk D, Stevens-Favorite K, Miller B, Leneus A, Fowler M, van de Rijn M, Attie K (2022). Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease. Neurology, 98(23), e2356-e2367. (Read full publication)
McDonald CM, Marbán E, Hendrix S, Hogan N, Ruckdeschel Smith R, Eagle M, Finkel RS, Tian C, Janas J, Harmelink MM, Varadhachary AS, Taylor MD, Hor KN, Mayer OH, Henricson EK, Furlong P, Ascheim DD, Rogy S, Williams P, Marbán L, HOPE-2 Study Group (2022). Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet (London, England), 399(10329), 1049-1058. (Read full publication)
Sherlock SP, Palmer J, Wagner KR, Abdel-Hamid HZ, Tian C, Mah JK, Muntoni F, Guglieri M, Butterfield RJ, Charnas L, Marraffino (2022). Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy. Scientific reports, 12(1), 18762. (Read full publication)
Muntoni F, Guglieri M, Mah JK, Wagner KR, Brandsema JF, Butterfield RJ, McDonald CM, Mayhew AG, Palmer JP, Marraffino S, Charnas L, Mercuri (2022). Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial. PloS one, 17(8), e0272858. (Read full publication)
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H, Genomics England Research Consortiu (2023). Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genetics in medicine, 25(1), 76-89. (Read full publication)
Finkel RS, Darras BT, Mendell JR, Day JW, Kuntz NL, Connolly AM, Zaidman C, Crawford TO, Butterfield RJ, Shieh PB, Tennekoon G, Brandsema JF, Iannaccone ST, Shoffner J, Kavanagh S, Macek TA, Tauscher-Wisniewski (2023). Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). Journal of neuromuscular diseases, 10(3), 389-404. (Read full publication)
Crawford TO, Swoboda KJ, De Vivo DC, Bertini E, Hwu WL, Finkel RS, Kirschner J, Kuntz NL, Nazario AN, Parsons JA, Pechmann A, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Zhu C, Raynaud S, Lago TR, Paradis AD, Foster R, Chin R, Berger Z, NURTURE Study Grou (2023). Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle & nerve, 68(2), 157-170. (Read full publication)
Wang LH, Leung DG, Wagner KR, Lowry SJ, McDermott MP, Eichinger K, Higgs K, Walker M, Lewis L, Martens WB, Mul K, Sansone VA, Shieh P, Elsheikh B, LoRusso S, Butterfield RJ, Johnson N, Preston MR, Messina C, Carraro E, Tawil R, Statland J, ReSolve Investigators of the FSHD CTR (2023). Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy. Neuromuscular disorders, 33(9), 63-68. (Read full publication)
Butterfield RJ, Dunn DM, Duval B, Moldt S, Weiss R (2023). Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. Genome research, 33(9), 1439-1454. (Read full publication)
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel S (2023). Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. Brain, 147(2), 414-426. (Read full publication)
Patel N, Berggren KN, Hung M, Bates K, Dixon MM, Bax K, Adams H, Butterfield RJ, Campbell C, Johnson N (2024). Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology, 102(5), e208115. (Read full publication)
Lietsch M, Chan K, Taylor J, Lee BH, Ciafaloni E, Kwon JM, Waldrop MA, Butterfield RJ, Rathore G, Veerapandiyan A, Kapil A, Parsons JA, Gibbons M, Brower (2024). 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. International journal of neonatal screening, 10(2), 34. (Read full publication)
Zaidman CM, Goedeker NL, Aqul AA, Butterfield RJ, Connolly AM, Crystal RG, Godwin KE, Hor KN, Mathews KD, Proud CM, Smyth EK, Veerapandiyan A, Watkins PB, Mendell J (2024). Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy. Journal of neuromuscular diseases, (Read full publication)
Orbach R, Maio N, Butterfield RJ, Foley AR, Silverstein S, Li Y, Chao K, Lehky TJ, Potticary A, Rouault TA, Donkervoort S, Bönnemann C (2025). BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy. Annals of clinical and translational neurology, (Read full publication)
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Halilo'lu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann C (2025). Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Brain, (Read full publication)
Mathews KD, Suhl J, Conway KM, Moore A, Alese JT, Butterfield RJ, Romitti PA, Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet (2025). Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network. Neuromuscular disorders, 46, 105240. (Read full publication)
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Halilo'lu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann C (2024). 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. (Read full publication)
Byrne BJ, Butterfield RJ, Shieh PB, Smith EC, Licht C, Binks M, Casinghino S, Delnomdedieu M, Ravindra KC, McDonnell T, Ryan K, Schulz M, Shen Q, Shi H, Sirivelu MP, Vaidya VS, Whiteley L, Levy D (2025). Complement Activation in a Phase Ib Study of Fordadistrogene Movaparvovec for Duchenne Muscular Dystrophy. Molecular therapy, (Read full publication)
Wang LH, Hatch MN, McDermott MP, Martens WB, Eichinger K, Lewis L, Walker M, Leung DG, Wagner KR, Sacconi S, Mul K, Shieh PB, Elsheikh B, Butterfield RJ, Johnson NE, Sansone V, Han JJ, Tawil R, Statland JM, ReSolve Investigators of FSHD CTR (2025). Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy. Neuromuscular disorders, 48, 105279. (Read full publication)
Wong KN, McIntyre M, Cook S, Hart K, Wilson A, Moldt S, Rohrwasser A, Butterfield R (2024). A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned. International journal of neonatal screening, 10(3), (Read full publication)
Sherlock SP, Levy DI, McIntosh A, Shieh PB, Smith EC, McDonnell TG, Ryan KA, Delnomdedieu M, Binks M, Lal AK, Butterfield R (2025). Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial. Molecular therapy, (Read full publication)
Oskoui M, Caller TA, Parsons JA, Servais L, Butterfield RJ, Bharadwaj J, Rose SC, Tolchin B, Puskala Hamel K, Silsbee HM, Dowling J (2025). Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee. Neurology, 104(11), e213604. (Read full publication)
Evans WJ, Hellerstein M, Butterfield RJ, Smith E, Guglieri M, Katz N, Nave B, Branigan L, Thera S, Vordos KL, Behar L, Schiava M, James MK, Field T, Mohammed H, Shankaran (2024). Reductions in functional muscle mass and ability to ambulate in Duchenne muscular dystrophy from ages 4 to 24 years. The Journal of physiology, 602(19), 4929-4939. (Read full publication)
Butterfield RJ, Dunn DM, Duval B, Moldt S, Weiss R (2023). Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. bioRxiv, (Read full publication)
Crawford TO, Servais L, Mercuri E, Kölbel H, Kuntz N, Finkel RS, Krueger J, Batley K, Young SD, Marantz JL, Song G, Yao B, Zhao G, Rossello J, Tirucherai GS, Mazzone ES, Butterfield RJ, de la Banda MGG, Seferian AM, Sansone VA, De Waele L, van der Pol WL, Cances C, Pechmann A, Darras BT, SAPPHIRE Study Grou (2025). 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. The Lancet. Neurology, 24(9), 727-739. (Read full publication)
Ables C, Jaramillo C, Wood EL, Stern S, Alashari M, Book L, Butterfield R (2024). Subacute liver injury in two young infants following gene replacement therapy for spinal muscular atrophy. Molecular therapy. Methods & clinical development, 32(3), 101296. (Read full publication)
Butterfield RJ, Shieh PB, Li H, Binks M, McDonnell TG, Ryan KA, Delnomdedieu M, Belluscio BA, Neelakantan S, Levy DI, Schwartz PF, Smith E (2025). AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial. Nature medicine, 31(8), 2712-2721. (Read full publication)
Lewis RG, O'Shea JM, Pizzo L, Wen T, Fulmer ML, Zhao J, Verheijen J, Zhang C, Velinder M, Nicholas TJ, Boyden SE, Ward A, Baldwin EE, Andrews A, Ruiz JH, Marchetti M, Viskochil D, Carey JC, Bleyl SB, Butterfield RJ, Taliercio V, Botto LD, Mao R, Bayrak-Toydemir P, Undiagnosed Diseases Networ (2025). RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases. BMC medical genomics, 18(1), 182. (Read full publication)
Crawford TO, Servais L, Mercuri E, Kölbel H, Kuntz N, Finkel RS, Krueger J, Batley K, Dunaway Young S, Marantz JL, Song G, Yao B, Zhao G, Rossello J, Tirucherai GS, Mazzone ES, Butterfield RJ, Gomez Garcia de la Banda M, Seferian AM, Sansone VA, De Waele L, van der Pol WL, Cances C, Pechmann A, Darras BT, SAPPHIRE Study Grou (2026). A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy. Expert review of neurotherapeutics, 26(1), 101-120. (Read full publication)
Neyaz T, Conway KM, Yang Y, Butterfield RJ, Venkatesh S, Romitti PA, Mathews KD, Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet (2026). Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort. Neuromuscular disorders, 60, 106334. (Read full publication)

Review

Birnkrant DJ, Bello L, Butterfield RJ, Carter JC, Cripe LH, Cripe TP, McKim DA, Nandi D, Pegoraro (2022). Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges. The Lancet. Respiratory medicine, 10(4), 403-420. (Read full publication)
Wolff JM, Capocci N, Atas E, Bharucha-Goebel DX, Brandsema JF, Butterfield RJ, Chadwick CB, Corti M, Crawford TO, Cripe L, Day JW, Duong T, ElMallah MK, Flanigan KM, George LA, Goedeker NL, Goude E, Hesterlee S, Lin B, Katz NK, Matesanz SE, McDonald C, McNally EM, Mercado-Rodriguez C, Nandi D, Parsons JA, Proud C, Ramos-Platt L, Lek A, Salabarria SM, Camino E, Schrader R, Shea E, Shell R, Shieh PB, Soslow JH, Taylor JB, Veerapandiyan A, Villa C, Yang ML, Zaidman CM, Leon-Astudillo C, Byrne B (2025). Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy. Neuromuscular disorders, 54, 106208. (Read full publication)
Ames EG, Borja NA, Butterfield RJ, Donald DR, Jarnes JR, Porter JM, Sapp KL, Ueng CS, Wang T, Cohen J (2025). Institutional readiness for novel therapeutics: A framework for multidisciplinary integration. Molecular genetics and metabolism, 146(1-2), 109214. (Read full publication)

Editorial

Johnson NE, Butterfield (2019). Muscle at the junction: Where next generation sequencing is sending us. Neurology, 92(13), 591-592. (Read full publication)