Search Results

There are 20727 results for: content related to: Prevalence of mitochondrial DNA disease in adults

  1. mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 416–424, J. Steffann, S. Monnot and J.-P. Bonnefont

    Version of Record online : 3 FEB 2015, DOI: 10.1111/cge.12557

  2. You have free access to this content
    Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics


    Volume 34, Issue 4, April 2016, Pages: 801–808, Hideyuki Hatakeyama and Yu-ichi Goto

    Version of Record online : 13 FEB 2016, DOI: 10.1002/stem.2292

  3. You have full text access to this OnlineOpen article
    Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

    Human Mutation

    Volume 32, Issue 1, January 2011, Pages: 116–125, Sophie Monnot, Nadine Gigarel, David C. Samuels, Philippe Burlet, Laetitia Hesters, Nelly Frydman, René Frydman, Violaine Kerbrat, Benoit Funalot, Jelena Martinovic, Alexandra Benachi, Josué Feingold, Arnold Munnich, Jean-Paul Bonnefont and Julie Steffann

    Version of Record online : 22 DEC 2010, DOI: 10.1002/humu.21417

  4. Mitochondrial tRNA mutations and disease

    Wiley Interdisciplinary Reviews: RNA

    Volume 1, Issue 2, September/October 2010, Pages: 304–324, John W. Yarham, Joanna L. Elson, Emma L. Blakely, Robert McFarland and Robert W. Taylor

    Version of Record online : 21 JUL 2010, DOI: 10.1002/wrna.27

  5. You have free access to this content
    Batteries not included: diagnosis and management of mitochondrial disease

    Journal of Internal Medicine

    Volume 265, Issue 2, February 2009, Pages: 210–228, R. McFarland and D. M. Turnbull

    Version of Record online : 9 JAN 2009, DOI: 10.1111/j.1365-2796.2008.02066.x

  6. You have free access to this content
    Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability

    The EMBO Journal

    Volume 35, Issue 18, 15 September 2016, Pages: 1979–1990, Ester Perales-Clemente, Alexandra N Cook, Jared M Evans, Samantha Roellinger, Frank Secreto, Valentina Emmanuele, Devin Oglesbee, Vamsi K Mootha, Michio Hirano, Eric A Schon, Andre Terzic and Timothy J Nelson

    Version of Record online : 19 JUL 2016, DOI: 10.15252/embj.201694892

  7. You have free access to this content
    Mitochondrial DNA and disease

    The Journal of Pathology

    Volume 226, Issue 2, January 2012, Pages: 274–286, Laura C Greaves, Amy K Reeve, Robert W Taylor and Doug M Turnbull

    Version of Record online : 21 NOV 2011, DOI: 10.1002/path.3028

  8. Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 882–893, Sha Tang, Jing Wang, Victor Wei Zhang, Fang-Yuan Li, Megan Landsverk, Hong Cui, Cavatina K. Truong, Guoli Wang, Li Chieh Chen, Brett Graham, Fernando Scaglia, Eric S. Schmitt, William J. Craigen and Lee-Jun C. Wong

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22307

  9. Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

    Annals of the New York Academy of Sciences

    Volume 1350, Issue 1, September 2015, Pages: 29–36, Hubert J.M. Smeets, Suzanne C.E.H. Sallevelt, Jos C.F.M. Dreesen, Christine E.M. de Die-Smulders and Irenaeus F.M. de Coo

    Version of Record online : 27 AUG 2015, DOI: 10.1111/nyas.12866

  10. You have full text access to this OnlineOpen article
    Mitochondrial disease in adults: what's old and what's new?

    EMBO Molecular Medicine

    Volume 7, Issue 12, December 2015, Pages: 1503–1512, Patrick F Chinnery

    Version of Record online : 26 NOV 2015, DOI: 10.15252/emmm.201505079

  11. You have free access to this content
    Toward a mtDNA locus-specific mutation database using the LOVD platform

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1352–1358, Joanna L. Elson, Mary G. Sweeney, Vincent Procaccio, John W. Yarham, Antonio Salas, Qing-Peng Kong, Francois H. van der Westhuizen, Robert D.S. Pitceathly, David R. Thorburn, Marie T. Lott, Douglas C. Wallace, Robert W. Taylor and Robert McFarland

    Version of Record online : 2 JUL 2012, DOI: 10.1002/humu.22118

  12. Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation


    Volume 35, Issue 2, April 2015, Pages: 130–136, Charlotte Maria Zierz, Pushpa Raj Joshi and Stephan Zierz

    Version of Record online : 6 NOV 2014, DOI: 10.1111/neup.12173

  13. Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes

    Annals of the New York Academy of Sciences

    Volume 1142, Issue 1, October 2008, Pages: 133–158, Douglas M. Sproule and Petra Kaufmann

    Version of Record online : 23 OCT 2008, DOI: 10.1196/annals.1444.011

    Corrected by:

    Corrigendum for Ann. N. Y. Acad. Sci. 1142: 133–158

    Vol. 1161, Issue 1, 601, Version of Record online: 17 APR 2009

  14. You have full text access to this OnlineOpen article
    Impaired respiratory function in MELAS-induced pluripotent stem cells with high heteroplasmy levels

    FEBS Open Bio

    Volume 5, Issue 1, January 01, 2015, Pages: 219–225, Masaki Kodaira, Hideyuki Hatakeyama, Shinsuke Yuasa, Tomohisa Seki, Toru Egashira, Shugo Tohyama, Yusuke Kuroda, Atsushi Tanaka, Shinichiro Okata, Hisayuki Hashimoto, Dai Kusumoto, Akira Kunitomi, Makoto Takei, Shin Kashimura, Tomoyuki Suzuki, Gakuto Yozu, Masaya Shimojima, Chikaaki Motoda, Nozomi Hayashiji, Yuki Saito, Yu-ichi Goto and Keiichi Fukuda

    Version of Record online : 20 MAR 2015, DOI: 10.1016/j.fob.2015.03.008

  15. You have full text access to this OnlineOpen article
    Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

    Annals of Neurology

    Volume 77, Issue 5, May 2015, Pages: 753–759, Gráinne S. Gorman, Andrew M. Schaefer, Yi Ng, Nicholas Gomez, Emma L. Blakely, Charlotte L. Alston, Catherine Feeney, Rita Horvath, Patrick Yu-Wai-Man, Patrick F. Chinnery, Robert W. Taylor, Douglass M. Turnbull and Robert McFarland

    Version of Record online : 28 MAR 2015, DOI: 10.1002/ana.24362

  16. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

    Neuropathology and Applied Neurobiology

    Volume 32, Issue 4, August 2006, Pages: 359–373, J. Betts, E. Jaros, R. H. Perry, A. M. Schaefer, R. W. Taylor, Z. Abdel-All, R. N. Lightowlers and D. M. Turnbull

    Version of Record online : 7 JUL 2006, DOI: 10.1111/j.1365-2990.2006.00731.x

  17. You have full text access to this OnlineOpen article
    Development of pharmacological strategies for mitochondrial disorders

    British Journal of Pharmacology

    Volume 171, Issue 8, April 2014, Pages: 1798–1817, M Kanabus, S J Heales and S Rahman

    Version of Record online : 28 MAR 2014, DOI: 10.1111/bph.12456

  18. You have free access to this content
    Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease

    British Journal of Pharmacology

    Volume 167, Issue 6, November 2012, Pages: 1311–1328, Juan Garrido-Maraver, Mario D Cordero, Irene Domínguez Moñino, Sheila Pereira-Arenas, Ana V Lechuga-Vieco, David Cotán, Mario De la Mata, Manuel Oropesa-Ávila, Manuel De Miguel, Juan Bautista Lorite, Eloy Rivas Infante, Manuel Álvarez-Dolado, Plácido Navas, Sandra Jackson, Silvia Francisci and José A Sánchez-Alcázar

    Version of Record online : 19 OCT 2012, DOI: 10.1111/j.1476-5381.2012.02086.x

  19. The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes

    Pediatric Diabetes

    Volume 16, Issue 1, February 2015, Pages: 1–9, Amel Karaa and Amy Goldstein

    Version of Record online : 20 OCT 2014, DOI: 10.1111/pedi.12223

  20. Molecular genetics of mitochondrial disorders

    Developmental Disabilities Research Reviews

    Volume 16, Issue 2, June 2010, Pages: 154–162, Lee-Jun C. Wong

    Version of Record online : 27 AUG 2010, DOI: 10.1002/ddrr.104