Russell J Butterfield
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Explore the profile of Russell J Butterfield including associated specialties, affiliations and a list of published articles.
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58
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1020
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Recent Articles
1.
Ables C, Jaramillo C, Wood E, Stern S, Alashari M, Book L, et al.
Mol Ther Methods Clin Dev
. 2025 Feb;
32(3):101296.
PMID: 40017665
Spinal muscular atrophy is a neurodegenerative disorder resulting from the irreversible loss of anterior horn cells secondary to homozygous mutations in the survival motor neuron gene . Gene replacement therapy...
2.
Wang L, Hatch M, McDermott M, Martens W, Eichinger K, Lewis L, et al.
Neuromuscul Disord
. 2025 Feb;
48:105279.
PMID: 39978161
Patients with FSHD can develop scapular winging and loss of ability to raise arm. Reachable workspace (RWS) is able to describe upper extremity (UE) reaching ability. We analyzed data from...
3.
Mathews K, Suhl J, Conway K, Moore A, Alese J, Butterfield R, et al.
Neuromuscul Disord
. 2024 Nov;
46:105240.
PMID: 39579597
Using data from the US population-based, multisite Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), we describe respiratory testing and insufficiency among people with facioscapulohumeral muscular dystrophy (FSHD) diagnosed...
4.
Evans W, Hellerstein M, Butterfield R, Smith E, Guglieri M, Katz N, et al.
J Physiol
. 2024 Aug;
602(19):4929-4939.
PMID: 39216089
Duchenne muscular dystrophy (DMD) results in a progressive loss of functional skeletal muscle mass (MM) and replacement with fibrofatty tissue. Accurate evaluation of MM in DMD patients has not previously...
5.
Wong K, McIntyre M, Cook S, Hart K, Wilson A, Moldt S, et al.
Int J Neonatal Screen
. 2024 Jul;
10(3).
PMID: 39051410
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months...
6.
Lietsch M, Chan K, Taylor J, Lee B, Ciafaloni E, Kwon J, et al.
Int J Neonatal Screen
. 2024 Apr;
10(2).
PMID: 38651399
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to...
7.
Zaidman C, Goedeker N, Aqul A, Butterfield R, Connolly A, Crystal R, et al.
J Neuromuscul Dis
. 2024 Apr;
11(3):687-699.
PMID: 38607761
Background: Duchenne muscular dystrophy (DMD) is a rare, degenerative, recessive X-linked neuromuscular disease. Mutations in the gene encoding dystrophin lead to the absence of functional dystrophin protein. Individuals living with...
8.
Foley A, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, et al.
medRxiv
. 2024 Apr;
PMID: 38585825
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint...
9.
Patel N, Berggren K, Hung M, Bates K, Dixon M, Bax K, et al.
Neurology
. 2024 Feb;
102(5):e208115.
PMID: 38359368
Background And Objectives: To describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at birth...
10.
Butterfield R, Dunn D, Duval B, Moldt S, Weiss R
Genome Res
. 2023 Oct;
33(9):1439-1454.
PMID: 37798116
Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array on the Chromosome 4q telomere allowing ectopic expression...