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Select item 33588371.

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

Fuyun Ji, Mark S. Sharpley, Olga Derbeneva, Leonardo Scherer Alves, Pin Qian, Yaoli Wang, Dimitra Chalkia, Maria Lvova, Jiancheng Xu, Wei Yao, Mariella Simon, Julia Platt, Shiqin Xu, Alessia Angelin, Antonio Davila, Taosheng Huang, Ping H. Wang, Lee-Ming Chuang, Lorna G. Moore, Guisheng Qian, Douglas C. Wallace

Proc Natl Acad Sci U S A. 2012 May 8; 109(19): 7391–7396. Published online 2012 Apr 18. doi: 10.1073/pnas.1202484109

PMCID:: PMC3358837

Abstract Article PDF–700K

Select item 31705302.

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

Thomas Klopstock, Patrick Yu-Wai-Man, Konstantinos Dimitriadis, Jacinthe Rouleau, Suzette Heck, Maura Bailie, Alaa Atawan, Sandip Chattopadhyay, Marion Schubert, Aylin Garip, Marcus Kernt, Diana Petraki, Christian Rummey, Mika Leinonen, Günther Metz, Philip G. Griffiths, Thomas Meier, Patrick F. Chinnery

Brain. 2011 Sep; 134(9): 2677–2686. Published online 2011 Jul 23. doi: 10.1093/brain/awr170

PMCID:: PMC3170530

Abstract Article PDF–294K

Select item 31984323.

Is Mitochondrial tRNA^phe Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

A-Mei Zhang, Hans-Jürgen Bandelt, Xiaoyun Jia, Wen Zhang, Shiqiang Li, Dandan Yu, Dong Wang, Xin-Ying Zhuang, Qingjiong Zhang, Yong-Gang Yao

PLoS One. 2011; 6(10): e26511. Published online 2011 Oct 19. doi: 10.1371/journal.pone.0026511

PMCID:: PMC3198432

Abstract Article PDF–547K

Select item 32169874.

Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients

A-Mei Zhang, Xiaoyun Jia, Rui Bi, Antonio Salas, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qing-Peng Kong, Qingjiong Zhang, Yong-Gang Yao

PLoS One. 2011; 6(11): e27750. Published online 2011 Nov 15. doi: 10.1371/journal.pone.0027750

PMCID:: PMC3216987

Abstract Article PDF–244K

Select item 32200555.

Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial Recruitment: Year 1

Byron L. Lam, William J. Feuer, Fawzi Abukhalil, Vittorio Porciatti, William W. Hauswirth, John Guy

Arch Ophthalmol. Author manuscript; available in PMC 2011 Nov 18.

Published in final edited form as: Arch Ophthalmol. 2010 Sep; 128(9): 1129–1135. doi: 10.1001/archophthalmol.2010.201

PMCID:: PMC3220055

Abstract Article PDF–940K

Select item 32444756.

Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy

Marcela Scabello Amaral-Fernandes, Ana Maria Marcondes, Paulo Maurício do Amor Divino Miranda, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato

Mol Vis. 2011; 17: 3175–3179. Published online 2011 Dec 7.

PMCID:: PMC3244475

Abstract Article PDF–259K

Select item 32988627.

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

Erwin van Wijk, Ferry F.J. Kersten, Aileen Kartono, Dorus A. Mans, Kim Brandwijk, Stef J.F. Letteboer, Theo A. Peters, Tina Märker, Xiumin Yan, Cor W.R.J. Cremers, Frans P.M. Cremers, Uwe Wolfrum, Ronald Roepman, Hannie Kremer

Hum Mol Genet. 2009 Jan 1; 18(1): 51–64. Published online 2008 Sep 30. doi: 10.1093/hmg/ddn312

PMCID:: PMC3298862

Abstract Article PDF–942K

Select item 33425028.

Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets

Kamil S. Sitarz, Patrick F. Chinnery, Patrick Yu-Wai-Man

Curr Neurol Neurosci Rep. 2012; 12(3): 308–317. Published online 2012 Mar 4. doi: 10.1007/s11910-012-0260-0

PMCID:: PMC3342502

Abstract Article PDF–259K

Select item 33566439.

Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber’s hereditary optic neuropathy in a mouse model

Hong Yu, Rajeshwari D. Koilkonda, Tsung-Han Chou, Vittorio Porciatti, Sacide S. Ozdemir, Vince Chiodo, Sanford L. Boye, Shannon E. Boye, William W. Hauswirth, Alfred S. Lewin, John Guy

Proc Natl Acad Sci U S A. 2012 May 15; 109(20): E1238–E1247. Published online 2012 Apr 20. doi: 10.1073/pnas.1119577109

PMCID:: PMC3356643

Abstract Article PDF–2.7M

Select item 311502210.

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON

Gavin Hudson, Patrick Yu-Wai-Man, Philip G. Griffiths, Rita Horvath, Valerio Carelli, Massimo Zeviani, Patrick F. Chinnery

Mitochondrion. 2011 Jul; 11(4-4): 620–622. doi: 10.1016/j.mito.2011.03.004

PMCID:: PMC3115022

Abstract Article

Select item 337243611.

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

A-Mei Zhang, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang, Yong-Gang Yao

J Transl Med. 2012; 10: 43. Published online 2012 Mar 9. doi: 10.1186/1479-5876-10-43

PMCID:: PMC3372436

Abstract Article PDF–617K

Select item 339261712.

Mitochondrial Gene Therapy Improves Respiration, Biogenesis, and Transcription in G11778A Leber's Hereditary Optic Neuropathy and T8993G Leigh's Syndrome Cells

Shilpa Iyer, Kristen Bergquist, Kisha Young, Erich Gnaiger, Raj R. Rao, James P. Bennett, Jr.

Hum Gene Ther. 2012 Jun; 23(6): 647–657. Published online 2012 Mar 7. doi: 10.1089/hum.2011.177

PMCID:: PMC3392617

Abstract Article PDF–979K

Select item 339469413.

Leber's Hereditary Optic Neuropathy Is Associated with the T3866C Mutation in Mitochondrial ND1 Gene in Three Han Chinese Families

Xiangtian Zhou, Yaping Qian, Juanjuan Zhang, Yi Tong, Pingping Jiang, Min Liang, Xianning Dai, Huihui Zhou, Fuxin Zhao, Yanchun Ji, Jun Qin Mo, Jia Qu, Min-Xin Guan

Invest Ophthalmol Vis Sci. 2012 Jul; 53(8): 4586–4594. Published online 2012 Jul 9. doi: 10.1167/iovs.11-9109

PMCID:: PMC3394694

Abstract Article PDF–292K

Select item 341174414.

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli

PLoS One. 2012; 7(8): e42242. Published online 2012 Aug 3. doi: 10.1371/journal.pone.0042242

PMCID:: PMC3411744

Abstract Article PDF–1.2M

Select item 345091615.

Neuron-Specific Enolase Is Elevated in Asymptomatic Carriers of Leber's Hereditary Optic Neuropathy

Kenneth M. Yee, Fred N. Ross-Cisneros, Jeong Goo Lee, Arlon Bastos Da Rosa, Solange R. Salomao, Adriana Berezovsky, Rubens Belfort, Jr, Filipe Chicani, Milton Moraes-Filho, Jerry Sebag, Valerio Carelli, Alfredo A. Sadun

Invest Ophthalmol Vis Sci. 2012 Sep; 53(10): 6389–6392. Published online 2012 Sep 21. doi: 10.1167/iovs.12-9677

PMCID:: PMC3450916

Abstract Article PDF–247K

Select item 350127616.

Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy

Manoj Kumar, Punit Kaur, Manoj Kumar, Rohit Saxena, Pradeep Sharma, Rima Dada

Mol Vis. 2012; 18: 2687–2699. Published online 2012 Nov 12.

PMCID:: PMC3501276

Abstract Article PDF–1.4M

Select item 350772717.

Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy

Giovanni Rizzo, Kevin R. Tozer, Caterina Tonon, David Manners, Claudia Testa, Emil Malucelli, Maria Lucia Valentino, Chiara La Morgia, Piero Barboni, Ruvdeep S. Randhawa, Fred N. Ross-Cisneros, Alfredo A. Sadun, Valerio Carelli, Raffaele Lodi

PLoS One. 2012; 7(11): e50230. Published online 2012 Nov 27. doi: 10.1371/journal.pone.0050230

PMCID:: PMC3507727

Abstract Article PDF–3.2M

Select item 352650918.

Dominant optic atrophy

Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea

Orphanet J Rare Dis. 2012; 7: 46. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-46

PMCID:: PMC3526509

Abstract Article PDF–946K

Select item 290716119.

Extremely Low Penetrance of Leber’s Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation

Jia Qu, Xiangtian Zhou, Juanjuan Zhang, Fuxin Zhao, Yan-Hong Sun, Yi Tong, Qi-Ping Wei, Wansi Cai, Li Yang, Constance E. West, Min-Xin Guan

Ophthalmology. Author manuscript; available in PMC 2010 Jul 20.

Published in final edited form as: Ophthalmology. 2009 Mar; 116(3): 558–564.e3. Published online 2009 Jan 22. doi: 10.1016/j.ophtha.2008.10.022

PMCID:: PMC2907161

Abstract Article PDF–452K

Select item 282659520.

Low penetrance of Leber’s hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation

Jia Qu, Xiangtian Zhou, Fuxin Zhao, Xiaoling Liu, Minglian Zhang, Yan-Hong Sun, Min Liang, Meixia Yuan, Qi Liu, Yi Tong, Qi-Ping Wei, Li Yang, Min-Xin Guan

Biochim Biophys Acta. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Biochim Biophys Acta. 2010 Mar; 1800(3): 305–312. Published online 2009 Sep 3. doi: 10.1016/j.bbagen.2009.08.010

PMCID:: PMC2826595

Abstract Article PDF–199K

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