Mitochondrial diseases

ISSN: 1750-1172 (Online)

In this topical collection (45 articles)

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  1. Research

    Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

    Anna Ardissone, Claudio Bruno, Daria Diodato… Article:413
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  2. Review

    Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Cristina Domínguez-González, Marcos Madruga-Garrido… Article:407
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  3. Research

    Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

    Aidan Searle, Georgia Herbert, Lucy Dabner… Article:404
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  4. Letter to the Editor

    Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice

    Cheng Cheng, James Cleak, Lan Weiss, Heather Cater… Article:386
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  5. Research

    Cognitive functioning and mental health in children with a primary mitochondrial disease

    Kim F. E. van de Loo, José A. E. Custers… Article:368
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  6. Research

    Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

    Anastasia Ambrose, Melissa Sheehan, Shalini Bahl… Article:360
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  7. Letter to the Editor

    Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome

    Jesse D. Moreira, Karan K. Smith, Sophia Zilber… Article:355
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  8. Research

    Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome

    Brittany Hornby, William Reid Thompson… Article:336
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  9. Review

    The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence

    Allison Hanaford, Simon C. Johnson Article:335
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  10. Review

    The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data

    Enrico Bertini, Emily Gregg, Chris Bartlett… Article:320
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  11. Research

    Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire survey

    Fumio Takano, Kaori Ueda, Daniel A. Godefrooij… Article:319
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  12. Letter to the Editor

    Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

    M. Pilar Bayona-Bafaluy, Ester López-Gallardo… Article:316
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  13. Research

    Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

    Julia Zibold, Bettina von Livonius, Hana Kolarova… Article:310
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  14. Research

    The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis

    Janet C. Long, Stephanie Best, Sarah Hatem… Article:310
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  15. Research

    Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

    Kristina Grigalionienė, Birutė Burnytė… Article:307
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  16. Research

    Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults

    Chad Gwaltney, Jonathan Stokes, Anthony Aiudi… Article:264
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  17. Research

    A conceptual disease model for quality of life in mitochondrial disease

    Kim F. E. van de Loo, Nander T. van Zeijl… Article:263
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  18. Research

    Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

    Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love… Article:243
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  19. Research

    Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

    Alessia Catania, Arcangela Iuso, Juliette Bouchereau… Article:236
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  20. Research

    Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient

    Giorgia Olivieri, Diego Martinelli, Daniela Longo… Article:229
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