Suchergebnisse - "Lawlor, Michael W"

PubPharm (159)

1

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

enthalten in: Acta neuropathologica | 2024

von Karimi, E. | Gohlke, J. | van der Borgh, M. | +7

2

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

enthalten in: Acta neuropathologica | 2024

von Karimi, E. | Gohlke, J. | van der Borgh, M. | +7

3

AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia

enthalten in: Molecular therapy. Methods & clinical development | 2024

von Chang, J. | Ryan, M. | Stark, M. | +16

4

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

5

Characterization ofNEBmutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

enthalten in: bioRxiv.org | 2023

von Karimi, E. | van der Borgh, M. | Lindqvist, J. | +7

6

Characterization of NEB mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

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

von Karimi, E. | van der Borgh, M. | Lindqvist, J. | +7

7

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

8

Human Skeletal Muscle Fiber Heterogeneity Beyond Myosin Heavy Chains

enthalten in: bioRxiv.org | 2023

von Moreno-Justicia, R. | Van der Stede, T. | Stocks, B. | +22

9

Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy

enthalten in: The American journal of pathology | 2023

von Slick, R. | Tinklenberg, J. | Sutton, J. | +14

10

Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology

enthalten in: The American journal of pathology | 2023

von Tinklenberg, J. | Slick, R. | Sutton, J. | +14

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