Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: MPV17[original query] |
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Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion 2015 Dec 26 81-85. Paramasivam Arumugam, Meena Angamuthu Kannan, Pedaparthi Lalitha, Jyothi Vuskamalla, Uppin Megha S, Jabeen Shaikh Afshan, Sundaram Challa, Thangaraj Kumarasa |
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 |
Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy. Clinical genetics 2018 1 93 (5): 1093-1096. Meldau S, De Lacy R J, Riordan G T M, Goddard E A, Pillay K, Fieggen K J, Marais A D, Van der Watt G |
Esophageal 3D organoids of MPV17 mouse model of mitochondrial DNA depletion show epithelial cell plasticity and telomere attrition. Oncotarget 2019 11 10 (58): 6245-6259. Guha Manti, Srinivasan Satish, Sheehan Maura M, Kijima Takashi, Ruthel Gordon, Whelan Kelly, Tanaka Koji, Klein-Szanto Andres, Chandramouleeswaran Prasanna M, Nakagawa Hiroshi, Avadhani Narayan |
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. Journal of clinical pathology 2020 10 75 (1): 34-38. Meldau Surita, Owen Elizabeth Patricia, Khan Kashief, Riordan Gillian Tra |
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology. The Journal of pediatrics 2021 5 236 124-130. Hegarty Robert, Gibson Philippa, Sambrotta Melissa, Strautnieks Sandra, Foskett Pierre, Ellard Sian, Baptista Julia, Lillis Suzanne, Bansal Sanjay, Vara Roshni, Dhawan Anil, Grammatikopoulos Tassos, Thompson Richard |
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. Mitochondrion 2021 1 57 205-212. Bychkov I O, Itkis Y S, Tsygankova P G, Krylova T D, Mikhaylova S V, Klyushnikov S A, Pechatnikova N L, Degtyareva A V, Nikolaeva E A, Seliverstov Y A, Kurbatov S A, Dadali E L, Rudenskaya G E, Illarioshkin S N, Zakharova E |
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases. Genes 2023 2 14 (2): . Zaman Qaiser, Khan Muhammad Abbas, Sahar Kalsoom, Rehman Gauhar, Khan Hamza, Rehman Mehwish, Najumuddin , Ahmad Ilyas, Tariq Muhmmad, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Naseer Muhammad Imran, Faisal Muhammad Shah, Wasif Naveed, Jelani Musharr |
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders. Italian journal of pediatrics 2023 11 49 (1): 155. Liling Dong, Li Shang, Caiyan Liu, Chenhui Mao, Xinying Huang, Shanshan Chu, Bin Peng, Liying Cui, Jing G |
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- Page last updated:Apr 22, 2024
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