Suchergebnisse - "Butterfield, Russell J"

PubPharm (20)

1

Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy

enthalten in: Neuromuscular disorders : NMD | 2023

von Wang, L. | Leung, D. | Wagner, K. | +20

2

Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

enthalten in: Genome research | 2023

von Butterfield, R. | Dunn, D. | Duval, B. | +2

UpdateOf: bioRxiv. 2023 Mar 29;:. - PMID 36824722

3

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy : 5-year update of the NURTURE study

enthalten in: Muscle & nerve | 2023

von Crawford, T. | Swoboda, K. | De Vivo, D. | +23

4

Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet

enthalten in: Muscle & nerve | 2022

von Butterfield, R. | Kirkov, S. | Conway, K. | +7

CommentIn: Muscle Nerve. 2022 Jul;66(1):1-2. - PMID 35377952

5

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

enthalten in: Human mutation | 2022

von Waldrop, M. | Moore, S. | Mathews, K. | +20

6

Cardiorespiratory management of Duchenne muscular dystrophy : emerging therapies, neuromuscular genetics, and new clinical challenges

enthalten in: The Lancet. Respiratory medicine | 2022

von Birnkrant, D. | Bello, L. | Butterfield, R. | +6

7

Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

enthalten in: Neuromuscular disorders : NMD | 2021

von Campbell, C. | McColl, E. | McDermott, M. | +45

8

p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models

enthalten in: Nature genetics | 2021

von Grow, E. | Weaver, B. | Smith, C. | +11

9

Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency

enthalten in: Seminars in pediatric neurology | 2021

von Butterfield, R.

10

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

enthalten in: Molecular genetics & genomic medicine | 2021

von Butterfield, R. | Imburgia, C. | Mayne, K. | +6