Academic papers

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Natural History of SURF1 Deficiency: A Retrospective Chart Review

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

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Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

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

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

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

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

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Recent developments in mitochondrial medicine (Part 2)

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Recent developments in mitochondrial medicine (Part 1)

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Drug Development for the Therapy of Mitochondrial Diseases

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papers about patient perspective

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

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Asset-Based Health Care for Children With Severe Neurologic Impairment

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books

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Mitochondrial Medicine

  Volkmar Weissig, Marvin Edeas

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Volume 1: Targeting Mitochondria

Volume 2: Assessing Mitochondria

Volume 3: Manipulating Mitochondria and Disease- Specific Approaches

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PAPERS ABOUT DATA, DATA STANDARDS, AND BEST PRACTICES

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Measuring the Impact of Data Sharing Platforms

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

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

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

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Data silos are undermining drug development and failing rare disease patients

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