Human Genome Epidemiology Literature Finder
|
Records 1 - 9 (of 9 Records) |
| Query Trace: Syndrome and ATP6[original query] |
|---|
| Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. Journal of molecular medicine (Berlin, Germany) 2015 Jul . Errichiello Edoardo, Balsamo Antonella, Cerni Marianna, Venesio Tizia |
| Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. Journal of medical genetics 2017 11 55 (1): 21-27. Sofou Kalliopi, de Coo Irenaeus F M, Ostergaard Elsebet, Isohanni Pirjo, Naess Karin, De Meirleir Linda, Tzoulis Charalampos, Uusimaa Johanna, Lönnqvist Tuula, Bindoff Laurence Albert, Tulinius Már, Darin Nikl |
| Mitochondrial DNA associations with East Asian metabolic syndrome. Biochimica et biophysica acta. Bioenergetics 2018 7 1859 (9): 878-892. Chalkia Dimitra, Chang Yi-Cheng, Derbeneva Olga, Lvova Maria, Wang Ping, Mishmar Dan, Liu Xiaogang, Singh Larry N, Chuang Lee-Ming, Wallace Douglas |
| Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. European journal of medical genetics 2020 4 63 (8): 103898. Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wu Bingbing, Wang |
| Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. Annals of clinical and translational neurology 2021 1 8 (3): 704-710. Licchetta Laura, Ferri Lorenzo, La Morgia Chiara, Zenesini Corrado, Caporali Leonardo, Lucia Valentino Maria, Minardi Raffaella, Fulitano Daniela, Di Vito Lidia, Mostacci Barbara, Alvisi Lara, Avoni Patrizia, Liguori Rocco, Tinuper Paolo, Bisulli Francesca, Carelli Valer |
| Role of Mitochondrial Mutations in Ocular Aggregopathy. Cureus 2022 Jul 14 (7): e27129. Chakraborty Munmun, Rao Aparna, Mohanty Kulde |
| 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 |
| 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
- Content source: