Suchergebnisse - "muscular dystrophy"

PubPharm (13.178)

91

The R436Q missense mutation in WWP1 disrupts autoinhibition of its E3 ubiquitin ligase activity, leading to self-degradation and loss of function

enthalten in: In vitro cellular & developmental biology. Animal | 2024

von Imamura, M. | Matsumoto, H. | Mannen, H. | +2

92

Facioscapulohumeral muscular dystrophy Health Index : Japanese translation and validation study

enthalten in: Disability and rehabilitation | 2024

von Fujino, H. | Takahashi, M. | Nakamura, H. | +8

93

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy : A case report

enthalten in: Heliyon | 2024

von Liu, C. | Lu, Y. | Yu, H. | +10

94

Genetic and Physical Study of Childhood Nerve and Muscle Disorders : Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood

enthalten in: ClinicalTrials.gov | 2024

95

Study of Inherited Neurological Disorders : Clinical and Molecular Manifestations of Inherited Neurological Disorders

enthalten in: ClinicalTrials.gov | 2024

96

A Study Of PGN-EDO51 In Participants With Duchenne Muscular Dystrophy Amenable To Exon 51-Skipping Treatment : A Phase 2, Open-Label, Multiple Ascending Dose Study of PGN-EDO51 With a Long-Term Extension in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment (CONNECT1-EDO51)

enthalten in: ClinicalTrials.gov | 2024

97

Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy : Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy

enthalten in: ClinicalTrials.gov | 2024

98

A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE) : A Phase 1/2, Multicenter, Open-Label Study to Investigate the Safety, Tolerability, and Efficacy of a Single Intravenous Dose of SGT-003 in Ambulant Males With Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)

enthalten in: ClinicalTrials.gov | 2024

99

Characterization of DupEx2 Duchenne Muscular Dystrophy : Characterization of the Phenotypic Diversity in DupEx2 Duchenne Muscular Dystrophy and Identification of Predictive/Prognostic Markers

enthalten in: ClinicalTrials.gov | 2024

100

NS-089/NCNP-02-201 in Boys With Duchenne Muscular Dystrophy (DMD) : A Phase 2 Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of NS-089/NCNP-02 in Boys With Duchenne Muscular Dystrophy (DMD)

enthalten in: ClinicalTrials.gov | 2024