Mitochondrial diseases

ISSN: 1750-1172 (Online)

In this topical collection (45 articles)

Page of 3

  1. Review

    AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives

    Allison R. Hanaford, Yoon-Jae Cho, Hiroyuki Nakai Article:217
    Download PDF (1439KB) View Article

  2. Research

    A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015

    Bruce Cohen, Cristy Balcells, Brian Hotchkiss… Article:210
    Download PDF (870KB) View Article

  3. Research

    UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases

    Juan M. Suárez-Rivero, Carmen J. Pastor-Maldonado… Article:204
    Download PDF (6204KB) View Article

  4. Research

    Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

    Alice Brambilla, Iacopo Olivotto, Silvia Favilli… Article:196
    Download PDF (1079KB) View Article

  5. Research

    Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

    Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga… Article:169
    Download PDF (542KB) View Article

  6. Research

    The evolution of the mitochondrial disease diagnostic odyssey

    John L. P. Thompson, Amel Karaa, Hung Pham… Article:157
    Download PDF (956KB) View Article

  7. Research

    Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

    Sonia Emperador, Ester López-Gallardo… Article:150
    Download PDF (778KB) View Article

  8. Research

    A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

    Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant… Article:139
    Download PDF (2397KB) View Article

  9. Research

    Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting

    Sameen Haque, Karen Crawley, Rupendra Shrestha… Article:129
    Download PDF (1443KB) View Article

  10. Research

    Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

    Andrea Rabenstein, Claudia B. Catarino… Article:127
    Download PDF (1207KB) View Article

  11. Research

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston… Article:120
    Download PDF (3359KB) View Article

  12. Research

    Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy

    Saskia Maria Gehrig, Violeta Mihaylova… Article:105
    Download PDF (598KB) View Article

  13. Research

    Late-onset thymidine kinase 2 deficiency: a review of 18 cases

    Cristina Domínguez-González, Aurelio Hernández-Laín… Article:100
    Download PDF (2169KB) View Article

  14. Research

    ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

    Martina Skopkova, Hana Stufkova, Vibhuti Rambani… Article:92
    Download PDF (1716KB) View Article

  15. Research

    Quantification of gait in mitochondrial m.3243A > G patients: a validation study

    Rob Ramakers, Saskia Koene, Jan T Groothuis… Article:91
    Download PDF (577KB) View Article

  16. Research

    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

    Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati… Article:89
    Download PDF (1973KB) View Article

  17. Research

    Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

    Elise Vantroys, Joél Smet, Arnaud V. Vanlander… Article:80
    Download PDF (875KB) View Article

  18. Research

    Psychological functioning in children suspected for mitochondrial disease: the need for care

    Kim F. E. van de Loo, José A. E. Custers, Saskia Koene… Article:76
    Download PDF (556KB) View Article

  19. Research

    Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

    Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi… Article:73
    Download PDF (7755KB) View Article

  20. Research

    KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

    Anna Ardissone, Davide Tonduti, Andrea Legati… Article:45
    Download PDF (1856KB) View Article
Page of 3