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There are 2095 results for: content related to: Mitochondrial DNA variants in Bulgarian patients affected by multiple sclerosis

  1. Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids

    Journal of Neuroscience Research

    Volume 86, Issue 15, 15 November 2008, Pages: 3331–3337, Gessica Sala, Federica Trombin, Simone Beretta, Lucio Tremolizzo, Paola Presutto, Monica Montopoli, Marianna Fantin, Andrea Martinuzzi, Valerio Carelli and Carlo Ferrarese

    Article first published online : 9 JUL 2008, DOI: 10.1002/jnr.21773

  2. You have free access to this content
    Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

    FEBS Journal

    Volume 272, Issue 5, March 2005, Pages: 1124–1135, Maura Floreani, Eleonora Napoli, Andrea Martinuzzi, Giorgia Pantano, Valentina De Riva, Roberta Trevisan, Elena Bisetto, Lucia Valente, Valerio Carelli and Federica Dabbeni-Sala

    Article first published online : 17 FEB 2005, DOI: 10.1111/j.1742-4658.2004.04542.x

  3. Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 2, 1 June 2003, Pages: 147–151, Neil Howell, Corinna Herrnstadt, Cliff Shults and David A. Mackey

    Article first published online : 26 MAR 2003, DOI: 10.1002/ajmg.a.20135

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    Mitochondrial optic neuropathies: our travels from bench to bedside and back again

    Clinical & Experimental Ophthalmology

    Volume 41, Issue 7, September/October 2013, Pages: 702–712, Alfredo A Sadun, Chiara La Morgia and Valerio Carelli

    Article first published online : 11 APR 2013, DOI: 10.1111/ceo.12086

  5. X-inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 1, 15 May 2003, Pages: 37–40, Elena Pegoraro, Andrea Vettori, Maria L. Valentino, Annamaria Molon, Maria L. Mostacciuolo, Neil Howell and Valerio Carelli

    Article first published online : 16 JAN 2003, DOI: 10.1002/ajmg.a.10211

  6. Leber Hereditary Optic Neuropathy (LHON)

    Standard Article

    eLS

    Liesbeth Spruijt

    Published Online : 16 JUL 2007, DOI: 10.1002/9780470015902.a0005541

  7. The role of the ND5 gene in LHON: Characterization of a new, heteroplasmic LHON mutation

    Annals of Neurology

    Volume 58, Issue 5, November 2005, Pages: 807–811, Vladimir Mayorov, Valerie Biousse, Nancy J. Newman and Michael D. Brown

    Article first published online : 20 OCT 2005, DOI: 10.1002/ana.20669

  8. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

    Annals of Neurology

    Volume 56, Issue 5, November 2004, Pages: 631–641, Maria Lucia Valentino, Piero Barboni, Anna Ghelli, Laura Bucchi, Chiara Rengo, Alessandro Achilli, Antonio Torroni, Alessandra Lugaresi, Raffaele Lodi, Bruno Barbiroli, MariaTeresa Dotti, Antonio Federico, Agostino Baruzzi and Valerio Carelli

    Article first published online : 25 OCT 2004, DOI: 10.1002/ana.20236

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    Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia

    Acta Ophthalmologica

    Volume 91, Issue 7, November 2013, Pages: 630–634, Paula Korkiamäki, Marko Kervinen, Karoliina Karjalainen, Kari Majamaa, Johanna Uusimaa and Anne M. Remes

    Article first published online : 12 SEP 2012, DOI: 10.1111/j.1755-3768.2012.02506.x

  10. New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy

    Clinical & Experimental Ophthalmology

    Volume 42, Issue 9, December 2014, Pages: 856–864, Íñigo Martínez-Romero, M Dolores Herrero-Martín, Laura Llobet, Sonia Emperador, Antonio Martín-Navarro, Bernat Narberhaus, Francisco J Ascaso, Ester López-Gallardo, Julio Montoya and Eduardo Ruiz-Pesini

    Article first published online : 30 MAY 2014, DOI: 10.1111/ceo.12355

  11. Leber's Hereditary Optic Neuropathy: The Spectrum of Mitochondrial DNA Mutations in Iranian Patients

    Annals of the New York Academy of Sciences

    Volume 1011, Issue 1, April 2004, Pages: 345–349, M HOUSHMAND, F SHARIFPANAH, A TABASI, M-H SANATI, M VAKILIAN, SH LAVASANI and S JOUGHEHDOUST

    Article first published online : 12 JAN 2006, DOI: 10.1196/annals.1293.035

  12. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations

    American Journal of Medical Genetics

    Volume 104, Issue 4, 15 December 2001, Pages: 331–338, Michael D. Brown, Jon C. Allen, Gregory P. Van Stavern, Nancy J. Newman and Douglas C. Wallace

    Article first published online : 27 NOV 2001, DOI: 10.1002/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W

  13. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 235–243, Patrick F. Chinnery, Richard M. Andrews, Douglass M. Turnbull and Neil Howell

    Article first published online : 11 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O

  14. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 4, 1 February 2004, Pages: 372–376, Mark A. Tarnopolsky, Steven K. Baker, Tomoko Myint, C.E. Maxner, J. Robitaille and Brian H. Robinson

    Article first published online : 7 AUG 2003, DOI: 10.1002/ajmg.a.20449

  15. Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy

    Acta Neurologica Scandinavica

    Volume 106, Issue 4, October 2002, Pages: 236–239, C. Buhmann, J. Gbadamosi and C. Heesen

    Article first published online : 13 SEP 2002, DOI: 10.1034/j.1600-0404.2002.01323.x

  16. An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy

    European Journal of Neurology

    Volume 12, Issue 5, May 2005, Pages: 388–391, W.L. Chuenkongkaew, P. Lertrit, C. Limwongse, Y. Nilanont, K. Boonyapisit, T. Sangruchi, N. Chirapapaisan and R. Suphavilai

    Article first published online : 24 MAR 2005, DOI: 10.1111/j.1468-1331.2004.01060.x

  17. Hereditary optic neuropathies share a common mitochondrial coupling defect

    Annals of Neurology

    Volume 63, Issue 6, June 2008, Pages: 794–798, Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, Christophe Verny, Marc Ferre, Hélène Dollfus, Sylvie Odent, Dan Milea, Cyril Goizet, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau and Pascal Reynier

    Article first published online : 21 MAY 2008, DOI: 10.1002/ana.21385

  18. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy

    Annals of Neurology

    Volume 52, Issue 5, November 2002, Pages: 534–542, John Guy, Xiaoping Qi, Francesco Pallotti, Eric A. Schon, Giovanni Manfredi, Valerio Carelli, Andrea Martinuzzi, William W. Hauswirth and Alfred S. Lewin

    Article first published online : 11 OCT 2002, DOI: 10.1002/ana.10354

  19. Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990–2001

    Internal Medicine Journal

    Volume 34, Issue 1-2, January 2004, Pages: 10–19, R. Marotta, J. Chin, A. Quigley, S. Katsabanis, R. Kapsa, E. Byrne and S. Collins

    Article first published online : 23 SEP 2008, DOI: 10.1111/j.1444-0903.2004.t01-3-.x

  20. Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy

    Clinical & Experimental Ophthalmology

    Volume 38, Issue 4, May/June 2010, Pages: 363–366, Je Hyun Seo, Jeong-Min Hwang and Sung Sup Park

    Article first published online : 22 FEB 2010, DOI: 10.1111/j.1442-9071.2010.02240.x