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ArticlesPeer ReviewedFull Text
Hypoxia as a therapy for mitochondrial disease
Author / Creator:Jain, Isha H. ; Zazzeron, Luca ; Goli, Rahul ; Alexa, Kristen ; Schatzman-Bone, Stephanie ; Dhillon, Harveen ; Goldberger, Olga ; Peng, Jun ; Shalem, Ophir ; Sanjana, Neville E. ; Zhang, Feng ; Goessling, Wolfram ; Zapol, Warren M. ; Mootha, Vamsi K.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2016-04, Vol.352 (6281), p.54-61
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ArticlesPeer ReviewedFull Text
Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene
Author / Creator:Yamada, Yuma ; Somiya, Kana ; Miyauchi, Akihiko ; Osaka, Hitoshi ; Harashima, Hideyoshi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-05, Vol.10 (1), p.7511-7511, Article 7511
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ArticlesPeer ReviewedFull Text
AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome
Author / Creator:Di Meo, I ; Marchet, S ; Lamperti, C ; Zeviani, M ; Viscomi, C
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2017-10, Vol.24 (10), p.661-667
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ArticlesPeer ReviewedFull Text
Fatal breathing dysfunction in a mouse model of Leigh syndrome
Author / Creator:Quintana, Albert ; Zanella, Sebastien ; Koch, Henner ; Kruse, Shane E. ; Lee, Donghoon ; Ramirez, Jan M. ; Palmiter, Richard D.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2012-07, Vol.122 (7), p.2359-2368
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ArticlesPeer ReviewedFull Text
Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
Author / Creator:Mustafa, Mohd Fazirul ; Fakurazi, Sharida ; Abdullah, Maizaton Atmadini ; Maniam, Sandra
Publisher:Switzerland: MDPI
Journal title:Genes, 2020-02, Vol.11 (2), p.192
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ArticlesPeer ReviewedFull Text
Thiamine transporter-2 deficiency: outcome and treatment monitoring
Author / Creator:Ortigoza-Escobar, Juan Darío ; Serrano, Mercedes ; Molero, Marta ; Oyarzabal, Alfonso ; Rebollo, Mónica ; Muchart, Jordi ; Artuch, Rafael ; Rodríguez-Pombo, Pilar ; Pérez-Dueñas, Belén
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-06, Vol.9 (1), p.92-92, Article 92
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ArticlesPeer ReviewedFull Text
MITOCHONDRIA. Mitochondrial disease therapy from thin air?
Author / Creator:Shoubridge, Eric A
Publisher:United States
Journal title:Science (American Association for the Advancement of Science), 2016-04, Vol.352 (6281), p.31-32
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ArticlesPeer ReviewedFull Text
A rare mitochondrial disorder: Leigh syndrome - a case report
Author / Creator:Shrikhande, Dhananjay Y ; Kalakoti, Piyush ; Syed, MM Aarif ; Ahya, Kunal ; Singh, Gurmeet
Publisher:England: BioMed Central Ltd
Journal title:Italian journal of pediatrics, 2010-09, Vol.36 (1), p.62-62, Article 62
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Newsletter articlesFull Text
Research from H. Komaki and colleagues has provided new data on leigh disease therapy
Publisher:NewsRX LLC
Journal title:Drug Week, 2010, p.1905
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ArticlesPeer ReviewedFull Text
Concentric thalamic change on MR of acute necrotising encephalopathy of childhood
Author / Creator:Wang, H.-S.
Publisher:Germany: Springer Nature B.V
Journal title:Neuroradiology, 2003-09, Vol.45 (9), p.661-662
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ArticlesPeer ReviewedFull Text
Advanced Practice Nursing Experience of a Female Adolescent With Leigh Syndrome and Her Family: A Family Strengths-Oriented Therapeutic Conversations Approach
Author / Creator:Cheng, Ching-Wen ; Gau, Bih-Shya
Publisher:China (Republic : 1949- ): Taiwan Nurses Association
Journal title:Hu li za zhi, 2023-08, Vol.70 (4), p.103-111
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ReviewsPeer ReviewedFull Text
A guide to diagnosis and treatment of Leigh syndrome
Author / Creator:Baertling, Fabian ; Rodenburg, Richard J ; Schaper, Jörg ; Smeitink, Jan A ; Koopman, Werner J H ; Mayatepek, Ertan ; Morava, Eva ; Distelmaier, Felix
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2014, Vol.85 (3), p.257-265
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Hypoxia as a therapy for mitochondrial disease

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Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene

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AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

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Fatal breathing dysfunction in a mouse model of Leigh syndrome

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Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions

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Thiamine transporter-2 deficiency: outcome and treatment monitoring

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MITOCHONDRIA. Mitochondrial disease therapy from thin air?

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A rare mitochondrial disorder: Leigh syndrome - a case report

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Research from H. Komaki and colleagues has provided new data on leigh disease therapy

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Concentric thalamic change on MR of acute necrotising encephalopathy of childhood

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Advanced Practice Nursing Experience of a Female Adolescent With Leigh Syndrome and Her Family: A Family Strengths-Oriented Therapeutic Conversations Approach

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A guide to diagnosis and treatment of Leigh syndrome

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