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Myotubular Trust | Researchclopedia

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Myotubular Trust

Londonnonprofit

15

Works

77

Citations

4

h-index

Top Research Topics

Muscle Physiology and Disorders Cellular transport and secretion Genetic Neurodegenerative Diseases

Top Researchers

Zoë A. Hughes Washington University in St. Louis

87 works4,222 citationsh-index: 35

Recent Research

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care

Julie Bohill,Lucy Hickson,et al.

20260 citations

Cardiomyopathy and Myosin Studies

Ubiquitin and proteasome pathways

RNA modifications and cancer

Genetics and Neurodevelopmental Disorders

Glycogen Storage Diseases and Myoclonus

COVID-19 and Mental Health

Respiratory Support and Mechanisms

Mechanical Circulatory Support Devices

Patient-Provider Communication in Healthcare

38 works3,571 citationsh-index: 16

Wendy Hughes Myotubular Trust

9 works315 citationsh-index: 5

28 works229 citationsh-index: 8

Anne Lennox Myotubular Trust

62 works210 citationsh-index: 8

Ashley L. Lennox Geron (United States)

8 works30 citationsh-index: 3

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study

Perry B. Shieh,Wendy Hughes,et al.

20250 citations

PCR257 Real-World Impact of X-Linked Myotubular Myopathy (XLMTM) on Caregivers in the United Kingdom (UK), Germany, and Spain

T. Haselkorn,Wendy Hughes,et al.

20240 citations

Lessons Learned From Clinical Studies in Centronuclear Myopathies: The Patient Perspective—A Qualitative Study

Lizan Stinissen,Johann Böhm,et al.

20244 citations

The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders

Lizan Stinissen,Sietse Bouma,et al.

20234 citations

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

J. Bullivant,Anando Sen,et al.

20231 citations