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Doctors Analyzing File

papers

Academic papers

Natural History of SURF1 Deficiency: A Retrospective Chart Review

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

Scientists Reach New Milestone in Mitochondrial Base Editing: TALEDs Induce A-to-G Substitutions in Mitochondrial DNA

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models

Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome

Recent developments in mitochondrial medicine (Part 2)

Recent developments in mitochondrial medicine (Part 1)

Drug Development for the Therapy of Mitochondrial Diseases

papers about patient perspective

Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty

Asset-Based Health Care for Children With Severe Neurologic Impairment

books

Mitochondrial Medicine

  Volkmar Weissig, Marvin Edeas

Volume 1: Targeting Mitochondria

Volume 2: Assessing Mitochondria

Volume 3: Manipulating Mitochondria and Disease- Specific Approaches

PAPERS ABOUT DATA, DATA STANDARDS, AND BEST PRACTICES

Measuring the Impact of Data Sharing Platforms

Rare Diseases Cures Accelerator Data and Analytics Platform (RDCA-DAP) best practices and recommendations for FAIR data, toward alignment with International Regulatory agencies

Use of Clinical Data Interchange Standards Consortium (CDISC) Standards for Real-world Data: Expert Perspectives From a Qualitative Delphi Survey

Solving medical mysteries in the AWS Cloud: Medical data-sharing innovation through the Undiagnosed Diseases Network

Data silos are undermining drug development and failing rare disease patients

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