Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Syndrome and ND5[original query] |
---|
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. Journal of human genetics 2004 49 (2): 92-6. Sudo Akira, Honzawa Shiho, Nonaka Ikuya, Goto Yu-ic |
The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. European journal of human genetics : EJHG 2007 Feb 15 (2): 155-61. Ruiter E Mariken, Siers Marloes H, van den Elzen Christa, van Engelen Baziel G, Smeitink Jan A M, Rodenburg Richard J, Hol Frans |
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. Journal of medical genetics 2007 Apr 44 (4): e74. Blok M J, Spruijt L, de Coo I F M, Schoonderwoerd K, Hendrickx A, Smeets H |
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. Clinical neurology and neurosurgery 2017 12 164 182-189. Bindu Parayil Sankaran, Sonam Kothari, Govindaraj Periyasamy, Govindaraju Chikkanna, Chiplunkar Shwetha, Nagappa Madhu, Kumar Rakesh, Vekhande Chetan Chandrakanth, Arvinda Hanumanthapura R, Gayathri Narayanappa, Srinivas Bharath M M, Ponmalar J N Jessiena, Philip Mariyamma, Vandana V P, Khan Nahid Akhtar, Nunia Vandana, Paramasivam Arumugam, Sinha Sanjib, Thangaraj Kumarasamy, Taly Arun |
A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues. Mitochondrion 2019 10 50 14-18. Panadés-de Oliveira Luísa, Montoya Julio, Emperador Sonia, Ruiz-Pesini Eduardo, Jericó Ivonne, Arenas Joaquín, Hernández-Lain Aurelio, Blázquez Alberto, Martín Miguel Á, Domínguez-González Cristi |
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I. BMC pediatrics 2020 1 20 (1): 41. Danhelovska Tereza, Kolarova Hana, Zeman Jiri, Hansikova Hana, Vaneckova Manuela, Lambert Lukas, Kucerova-Vidrova Vendula, Berankova Kamila, Honzik Tomas, Tesarova Marke |
NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia. Current topics in medicinal chemistry 2021 6 21 (11): 938-948. Ivanova Elena Mihailova, Kandilarova Snezhina Mihailova, Lukanov Tzvetelin Ivanov, Naumova Elissaveta Jordanova, Akabalieva Katerina Valentinova, Milanova Vihra Krumo |
MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies. Frontiers in neurology 2021 5 12 648740. Wei Yanping, Huang Yan, Yang Yingmai, Qian M |
Genetic associations with polycystic ovary syndrome: the role of the mitochondrial genome; a systematic review and meta-analysis. Journal of clinical pathology 2022 9 75 (12): 815-824. Moosa Almira, Ghani Meeladah, O'Neill Helen Clai |
Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome. Pediatric neurology 2022 11 138 27-32. Na Ji-Hoon, Lee Young-Mo |
The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome. Frontiers in endocrinology 2023 9 14 1093353. Shaheen Bibi, Ghulam Abbas, Muhammad Zahoor Khan, Tanzeela Nawaz, Qudrat Ullah, Aziz Uddin, Muhammad Fiaz Khan, Sajid Ul Ghafoor, Muhammad Shahid Nadeem, Sadia Tabassum, Muhammad Zaho |
"Mitochondrial pathogenic mutations and metabolic alterations associated with COVID-19 disease severity". Journal of medical virology 2023 2 95 (2): e28553. Kumari Diksha, Singh Yamini, Singh Sayar, Dogra Vikas, Srivastava Ashish Kumar, Srivastava Swati, Garg Iti, Bargotya Mona, Hussain Javid, Ganju Lilly, Varshney Raje |
Association of Mitochondrial Variants with the Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis. Antioxidants (Basel, Switzerland) 2023 11 12 (11): . Natalia Zeber-Lubecka, Maria Kulecka, Katarzyna Suchta, Michalina D?browska, Micha? Ciebiera, Ewa E Henn |
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia. International journal of molecular sciences 2023 1 24 (2): . Kistol Denis, Tsygankova Polina, Krylova Tatiana, Bychkov Igor, Itkis Yulia, Nikolaeva Ekaterina, Mikhailova Svetlana, Sumina Maria, Pechatnikova Natalia, Kurbatov Sergey, Bostanova Fatima, Migiaev Ochir, Zakharova Ekateri |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: