Doctors Analyzing File

papers

Academic papers

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

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

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