Search in:

The Application of Clinical Genetics Volume 7, 2014 - Issue

Submit an article Journal homepage

Open access

890

Views

CrossRef citations to date

Altmetric

Review

The genetics of Leigh syndrome and its implications for clinical practice and risk management

Ilene S RuhoyDivision of Pediatric Neurology, Seattle Children’s Hospital/University of Washington, Seattle, WA, USA

Russell P SanetoDivision of Pediatric Neurology, Seattle Children’s Hospital/University of Washington, Seattle, WA, USACorrespondence[email protected]

Pages 221-234 | Published online: 13 Nov 2014

Cite this article
CrossMark

Full Article
Figures & data
References
Citations
Metrics
Licensing
Reprints & Permissions
View PDF PDF

Citations (24)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Articles from other publishers (24)

Nastaran Daneshgar, Mariah R. Leidinger, Stephanie Le, Marco Hefti, Alessandro Prigione & Dao-Fu Dai. (2023) Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome. Frontiers in Neuroscience 16.
Crossref

Michelle G Sy & Ma. Antonia Aurora Moral-Valencia. (2022) Leigh Syndrome in a Filipino Child: A Case Report. Journal of Medicine, University of Santo Tomas 6:2, pages 1027-1038.
Crossref

Can Ozlu, Priya Chelliah, Hamza Dahshi, Daniel Horton, Veronica B. Edgar, Souad Messahel & Saima Kayani. (2022) ECHS1 deficiency and its biochemical and clinical phenotype. American Journal of Medical Genetics Part A 188:10, pages 2908-2919.
Crossref

Masaru Tanaka, Ágnes Szabó, Eleonóra Spekker, Helga Polyák, Fanni Tóth & László Vécsei. (2022) Mitochondrial Impairment: A Common Motif in Neuropsychiatric Presentation? The Link to the Tryptophan–Kynurenine Metabolic System. Cells 11:16, pages 2607.
Crossref

Mariana Fuinhas Alves, Ariane Caroline Campos Paschoal, Tabata D’Maiella Freitas Klimeck, Crisciele Kuligovski, Bruna Hilzendeger Marcon, Alessandra Melo de Aguiar & Patrick G. Murray. (2022) Biological Synthesis of Low Cytotoxicity Silver Nanoparticles (AgNPs) by the Fungus Chaetomium thermophilum—Sustainable Nanotechnology. Journal of Fungi 8:6, pages 605.
Crossref

Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Andrea Gropman & Anne Chiaramello. (2021) Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome. Frontiers in Cell and Developmental Biology 9.
Crossref

Arta Katkevica, Madara Kreile, Ieva Grinfelde, Gita Taurina, Ieva Micule, Iveta Dzivite-Krisane, Arta Smite-Laguna & Ieva Malniece. (2021) Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia. Case Reports in Medicine 2021, pages 1-5.
Crossref

Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang & Xue-Mei Wu. (2021) Late-onset Leigh syndrome without delayed development in China: A case report. World Journal of Clinical Cases 9:24, pages 7133-7138.
Crossref

Ajibola B. Bakare, Edward J. Lesnefsky & Shilpa Iyer. (2021) Leigh Syndrome: A Tale of Two Genomes. Frontiers in Physiology 12.
Crossref

Paola Zanfardino, Stefano Doccini, Filippo M. Santorelli & Vittoria Petruzzella. (2021) Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain. International Journal of Molecular Sciences 22:15, pages 8325.
Crossref

Brad Ebanks, Thomas L Ingram & Lisa Chakrabarti. (2020) ATP synthase and Alzheimer’s disease: putting a spin on the mitochondrial hypothesis. Aging 12:16, pages 16647-16662.
Crossref

Rui Fang, Bin Zhang, Xiaoming Lu, Xin Jin & Tao Liu. (2019) FASTKD2 promotes cancer cell progression through upregulating Myc expression in pancreatic ductal adenocarcinoma. Journal of Cellular Biochemistry 121:3, pages 2458-2466.
Crossref

Tao-Ran Li, Qun Wang, Mao-Mao Liu & Rui-Juan Lv. (2019) A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene. Frontiers in Neurology 10.
Crossref

Milton David Herrera, Eugenia Espinosa García, Johana María Guevara Morales & Olga Yaneth Echeverri Peña. (2019) Diagnóstico clínico y bioquímico del síndrome de Leigh en cinco pacientes colombianos. Revista Med 26:1, pages 26-33.
Crossref

Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura, Yibo Wu, Kaoru Mogushi, Yukiko Yatsuka, Hiroko Harashima, Yuichiro Hisatomi, Takuya Fushimi, Keiko Ichimoto, Kei Murayama, Akira Ohtake & Yasushi Okazaki. (2019) Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. neurogenetics 20:1, pages 9-25.
Crossref

César Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Fabricio Guimaraes Goncalves & Giulio Zuccoli. 2019. Diagnosis and Management of Mitochondrial Disorders. Diagnosis and Management of Mitochondrial Disorders 289 316 .

Geurim Son & Jinju Han. (2018) Roles of mitochondria in neuronal development. BMB Reports 51:11, pages 549-556.
Crossref

Yanping Wei, Liying Cui & Bin Peng. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome. Journal of Neurology 265:10, pages 2388-2395.
Crossref

Shiro FUKUDA, Nanae MIYAKE & Hiroaki MATAYOSHI. (2018) Anesthetic Management for Surgical Gastrostomy in a Patient with Leigh Syndrome開腹胃瘻造設術を行ったLeigh脳症患者の全身麻酔の１例. Yamaguchi Medical Journal 67:3, pages 155-159.
Crossref

César Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Dominik Grieb, Leandro Tavares Lucato, Amy C. Goldstein & Giulio Zuccoli. (2018) Neuroimaging of Mitochondrial Cytopathies. Topics in Magnetic Resonance Imaging 27:4, pages 219-240.
Crossref

Gizem Inak, Carmen Lorenz, Pawel Lisowski, Annika Zink, Barbara Mlody & Alessandro Prigione. (2017) Concise Review: Induced Pluripotent Stem Cell-Based Drug Discovery for Mitochondrial Disease. Stem Cells 35:7, pages 1655-1662.
Crossref

William Corrêa Tavares & Héctor N. Seuánez. (2017) Disease-associated mitochondrial mutations and the evolution of primate mitogenomes. PLOS ONE 12:5, pages e0177403.
Crossref

H.K. Aintablian, V. Narayanan, N. Belnap, K. Ramsey & T.A. Grebe. (2017) An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach. Molecular Genetics and Metabolism Reports 10, pages 38-44.
Crossref

Rohit Sharma & Frank Gaillard. 2005. Radiopaedia.org. Radiopaedia.org.

Share icon
Back to Top

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.

People also read
Recommended articles
Cited by

To cite this article:

Reference style: APA Chicago Harvard

Citation copied to clipboard

Reference styles above use APA (6th edition), Chicago (16th edition) & Harvard (10th edition)

Download citation

Download a citation file in RIS format that can be imported by citation management software including EndNote, ProCite, RefWorks and Reference Manager.

Choose format: RIS BibTex RefWorks Direct Export

Choose options: Citation Citation & abstract Citation & references

The genetics of Leigh syndrome and its implications for clinical practice and risk management

Articles from other publishers (24)

Information for

Open access

Opportunities

Help and information

Your download is now in progress and you may close this window

Login or register to access this feature

The genetics of Leigh syndrome and its implications for clinical practice and risk management

Citations (24)

Articles from other publishers (24)

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date