Suchergebnisse - "Butterfield, Russell J"

PubPharm (92)

1

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

enthalten in: bioRxiv.org | 2024

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

2

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

enthalten in: International journal of neonatal screening | 2024

von Lietsch, M. | Chan, K. | Taylor, J. | +11

3

Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy

enthalten in: Journal of neuromuscular diseases | 2024

von Zaidman, C. | Goedeker, N. | Aqul, A. | +11

4

The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

enthalten in: bioRxiv.org | 2024

von Foley, A. | Bolduc, V. | Guirguis, F. | +66

5

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

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Foley, A. | Bolduc, V. | Guirguis, F. | +66

6

Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy

enthalten in: Neurology | 2024

von Patel, N. | Berggren, K. | Hung, M. | +7

7

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

8

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

9

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

10

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

enthalten in: bioRxiv : the preprint server for biology | 2023

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

UpdateIn: Genome Res. 2023 Sep;33(9):1439-1454. - PMID 37798116

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