Suchergebnisse - "Dowling, James J"

PubPharm (254)

1

Characterization of a novel zebrafish model ofMTMR5-associated CMT4B3

enthalten in: bioRxiv.org | 2024

von Lindzon, J. | List, M. | Geissah, S. | +2

2

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

enthalten in: HGG advances | 2024

von Oh, R. | Almail, A. | Cheerie, D. | +13

3

Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy

enthalten in: Human molecular genetics | 2024

von Fabian, L. | Karimi, E. | Farman, G. | +4

4

The myotubular and centronuclear myopathy patient registry : a multifunctional tool for translational research

enthalten in: Neuromuscular disorders : NMD | 2024

von Bullivant, J. | Sen, A. | Page, J. | +13

5

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system : A prospective cohort study

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Hartley, T. | Marshall, D. | Acker, M. | +81

6

Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy

enthalten in: Human molecular genetics | 2024

von Endo, Y. | Groom, L. | Wang, S. | +7

7

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy : results from a substudy of the ASPIRO open-label clinical trial

enthalten in: EBioMedicine | 2024

von Lawlor, M. | Schoser, B. | Margeta, M. | +36

8

Standardization of zebrafish drug testing parameters for muscle diseases

enthalten in: Disease models & mechanisms | 2024

von Karuppasamy, M. | English, K. | Henry, C. | +9

9

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO) : a multinational, open-label, dose-escalation trial

enthalten in: The Lancet. Neurology | 2023

von Shieh, P. | Kuntz, N. | Dowling, J. | +30

CommentIn: Lancet Neurol. 2023 Dec;22(12):1089-1091. - PMID 37977700

10

Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy

enthalten in: Sleep medicine | 2023

von Chiang, J. | Xiao, L. | Nigro, E. | +15

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