Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 95 Records) |
Query Trace: Mitochondrial disease[original query] |
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Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease. PloS one 2020 9 15 (9): e0233666. Toncheva Draga, Serbezov Dimitar, Karachanak-Yankova Sena, Nesheva Desisla |
Lower urinary tract dysfunction in adult patients with mitochondrial disease. Neurourology and urodynamics 2020 9 39 (8): 2253-2263. Feeney Catherine, Gorman Grainne, Stefanetti Renae, McFarland Robert, Turnbull Doug, Harding Christopher, Sachdeva Ashw |
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Human genomics 2020 Sep 14 (1): 28. Tsang Mandy H Y, Kwong Anna K Y, Chan Kate L S, Fung Jasmine L F, Yu Mullin H C, Mak Christopher C Y, Yeung Kit-San, Rodenburg Richard J T, Smeitink Jan A M, Chan Rachel, Tsoi Thomas, Hui Joannie, Wong Shelia S N, Tai Shuk-Mui, Chan Victor C M, Ma Che-Kwan, Fung Sharon T H, Wu Shun-Ping, Chak W K, Chung Brian H Y, Fung Cheuk-Wi |
Protective role of p53 in doxorubicin-induced cardiomyopathy as a mitochondrial disease. Molecular & cellular oncology 2020 5 7 (3): 1724598. Nishi Masahiro, Wang Ping-Yuan, Hwang Paul |
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy. Human mutation 2020 Dec . Campbell Teresa, Lou Xiaoting, Slone Jesse, Brown Jenice, Bromwell Meghan, Liu Jie, Bai Renkui, Haude Katrina, Balog Amanda, Cui Hong, Zou Weiwei, Yang Li, Al-Beshri Ali, Huang Taoshe |
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study. Neurology 2020 10 96 (2): e241-e249. Primiano Guido, Brunetti Valerio, Vollono Catello, Losurdo Anna, Moroni Rossana, Della Marca Giacomo, Servidei Serenel |
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 |
Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease. Mitochondrion 2021 9 61 31-43. Alonso Martina, Zabala Cristina, Mansilla Santiago, De Brun Laureana, Martínez Jennyfer, Garau Mariela, Rivas Gabriela, Acosta Cecilia, Lens Daniela, Cerisola Alfredo, Graña Martín, Naya Hugo, Puentes Rodrigo, Spangenberg Lucía, Raggio Víctor, Lemes Aída, Castro Laura, Quijano Cel |
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. International journal of cardiology 2021 Jul . Imai-Okazaki Atsuko, Matsunaga Ayako, Yatsuka Yukiko, Nitta Kazuhiro R, Kishita Yoshihito, Sugiura Ayumu, Sugiyama Yohei, Fushimi Takuya, Shimura Masaru, Ichimoto Keiko, Tajika Makiko, Ogawa-Tominaga Minako, Ebihara Tomohiro, Matsuhashi Tetsuro, Tsuruoka Tomoko, Kohda Masakazu, Hirata Tomoko, Harashima Hiroko, Nojiri Shuko, Takeda Atsuhito, Nakaya Akihiro, Kogaki Shigetoyo, Sakata Yasushi, Ohtake Akira, Murayama Kei, Okazaki Yasus |
Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study. Neurology. Clinical practice 2021 4 11 (2): 97-104. Braz Luis P, Ng Yi Shiau, Gorman Gráinne S, Schaefer Andrew M, McFarland Robert, Taylor Robert W, Turnbull Doug M, Whittaker Roger |
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome. Frontiers in pharmacology 2021 3 12 605803. Wang Junling, Liu Zhimei, Xu Manting, Han Xiaodi, Ren Changhong, Yang Xinying, Zhang Chunhua, Fang Fa |
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Annals of clinical and translational neurology 2021 10 8 (11): 2155-2165. Hikmat Omar, Isohanni Pirjo, Keshavan Nandaki, Ferla Matteo P, Fassone Elisa, Abbott Mary-Alice, Bellusci Marcello, Darin Niklas, Dimmock David, Ghezzi Daniele, Houlden Henry, Invernizzi Federica, Kamarus Jaman Nazreen B, Kurian Manju A, Morava Eva, Naess Karin, Ortigoza-Escobar Juan Darío, Parikh Sumit, Pennisi Alessandra, Barcia Giulia, Tylleskär Karin B, Brackman Damien, Wortmann Saskia B, Taylor Jenny C, Bindoff Laurence A, Fellman Vineta, Rahman Shami |
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. Human genetics 2021 10 140 (12): 1733-1751. Ullah Farid, Rauf Waqar, Khan Kamal, Khan Sheraz, Bell Katrina M, de Oliveira Vanessa Cristina, Tariq Muhammad, Bakhshalizadeh Shabnam, Touraine Philippe, Katsanis Nicholas, Sinclair Andrew, He Sijie, Tucker Elena J, Baig Shahid M, Davis Erica |
[A non-invasive method for detecting mitochondrial tRNA15927G>A mutation]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2021 1 41 (1): 151-156. Tang Zhining, Tang Xiaowen, Xue Ling, Guan Minx |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype. Pediatric endocrinology, diabetes, and metabolism 2022 5 28 (2): 141-151. Wesó?-Kucharska Dorota, Rokicki Dariusz, Greczan Milena, Kaczor Magdalena, Czeku?-Kry?kiewicz Edyta, Piekutowska-Abramczuk Dorota, Halat-Wolska Paulina, Ciara El?bieta, Jaworski Maciej, Jezela-Stanek Aleksand |
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease. Pediatric neurology 2022 5 132 11-18. Wu Tenghui, He Fang, Xiao Neng, Han Yunli, Yang Liming, Peng Ji |
Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases. Molecular genetics & genomic medicine 2022 4 10 (6): e1943. Sun Chong, Wu Shengyang, Chen Ruiguo, Liu Junwu, Wang Jiasen, Ma Yanyun, Yuan Zhulin, Li Yuezh |
Higher SBP in female patients with mitochondrial disease. Journal of hypertension 2022 Feb . Viering Daan H H M, van Borselen Marjolein D, Deinum Jaap, Bindels Rene J M, de Baaij Jeroen H F, Janssen Mirian C |
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss. Molecular genetics and metabolism 2022 2 135 (4): 333-341. van Kempen Carlijn M A, Beynon Andy J, Smits Jeroen J, Janssen Mirian C |
[Chronic progressive external ophthalmoplegia that could not be diagnosed by biceps muscle biopsy, but was genetically diagnosed by extraocular muscle biopsy]. Rinsho shinkeigaku = Clinical neurology 2022 11 62 (12): 946-951. Shiraishi Wataru, Tateishi Takahisa, Hashimoto Yu, Yamasaki Ryo, Kira Jun-Ichi, Isobe Nori |
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease. Molecular genetics and metabolism 2022 Sep 137 (3): 230-238. Elander Johanna, McCormick Elizabeth M, Värendh Maria, Stenfeldt Karin, Ganetzky Rebecca D, Goldstein Amy, Zolkipli-Cunningham Zarazuela, MacMullen Laura E, Xiao Rui, Falk Marni J, Ehinger Johannes |
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations. Laboratory medicine 2023 7 . Shinya Matsumoto, Takeshi Uchiumi, Nozomi Noda, Yasushi Ueyanagi, Taeko Hotta, Dongchon Ka |
Astrocytic pathology in Alpers' syndrome. Acta neuropathologica communications 2023 5 11 (1): 86. Laura A Smith, Chun Chen, Nichola Z Lax, Robert W Taylor, Daniel Erskine, Robert McFarla |
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis. Scientific reports 2023 3 13 (1): 4193. Wu Teng-Hui, Peng Jing, Yang Li, Chen Yan-Hui, Lu Xiu-Lan, Huang Jiao-Tian, You Jie-Yu, Ou-Yang Wen-Xian, Sun Yue-Yu, Xue Yi-Nan, Mao Xiao, Yan Hui-Ming, Ren Rong-Na, Xie Jing, Chen Zhi-Heng, Zhang Victor-Wei, Lyu Gui-Zhen, He Fa |
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity. Journal of neuromuscular diseases 2023 12 . Charlie Saunders, Cheryl Longman, Grainne Gorman, Kelly James, Agata Oliwa, Richard Petty, Lesley Snadden, Maria Elena Farrug |
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals. Frontiers in neurology 2023 12 14 1292320. Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F Chinnery, Catarina Olimpio, Rita Horva |
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. Human molecular genetics 2023 11 . Stuart J Cannon, Timothy Hall, Gareth Hawkes, Kevin Colclough, Roisin M Boggan, Caroline F Wright, Sarah J Pickett, Andrew T Hattersley, Michael N Weedon, Kashyap A Pat |
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 |
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- Page last updated:May 13, 2024
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