Search Results - "mitochondrial disorders"

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  1. 41
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    Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model by Mateusz M. Wydro, Janneke Balk

    Published 2013
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  2. 42
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    History of international connections of myology in Europe by Corrado Angelini

    Published 2023
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  3. 43
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    Neutrophil-specific knockout demonstrates a role for mitochondria in regulating neutrophil motility in zebrafish by Wenqing Zhou, Lingyan Cao, Jacob Jeffries, Xiaoguang Zhu, Christopher J. Staiger, Qing Deng

    Published 2018
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  4. 44
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    Proteomic analysis of magnesium-dependent proteins and children's health by O. A. Gromova, I. Yu. Torshin, N. I. Tapilskaya

    Published 2017
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  5. 45
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    Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases by Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-, Konstantina Fragaki, Véronique Paquis-Flucklinger, Sylvie Bannwarth

    Published 2018
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  6. 46
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    Growth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report by Ting Li, Zhihong Lu, Jingjing Wang, Junyi Chen, Haidong Fu, Jianhua Mao

    Published 2021
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  7. 47
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    Protective effect of natural products in the metabolic-associated kidney diseases via regulating mitochondrial dysfunction by Peng Liu, Yao Chen, Jing Xiao, Wenhui Zhu, Xiaoming Yan, Ming Chen

    Published 2023
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  8. 48
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    A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation by Ami Shah, Shilpa Kulkarni, Snehal Mallakmir, Rashid Merchant

    Published 2023
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  9. 49
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    The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study by Elham Mojodi, Alimohammad Mosadegh Mehrjardi, Yasaman Naeimzadeh, Nasrin Ghasemi, Ali Falahati, Seyed Mohammad Moshtaghioun

    Published 2023
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  10. 50
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    Shortage of Cellular ATP as a Cause of Diseases and Strategies to Enhance ATP by Todd A. Johnson, H. A. Jinnah, Naoyuki Kamatani

    Published 2019
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  11. 51
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    Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review by Ilya I. Amergoolov, Yulia I. Khruleva, Maria G. Pavlova, Natalia V. Likhodey, Abu M. Sulaev, Elena V. Surkova, Yulia P. Sych, Marina F. Kalashnikova, Anna S. Arustamyan, Gratsinna A. Martirosyan, Simione T. Lew-Gor

    Published 2024
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  12. 52
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    Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay-A Three-Year Pilot Study in Sweden by Rolf H. Zetterström, Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström

    Published 2017
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  13. 53
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    Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction by Naomi Chadderton, Arpad Palfi, Daniel M. Maloney, Matthew Carrigan, Laura K. Finnegan, Killian S. Hanlon, Ciara Shortall, Mary O'Reilly, Peter Humphries, Lorraine Cassidy, Paul F. Kenna, Sophia Millington-Ward, G. Jane Farrar

    Published 2023
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  14. 54
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    miR-125b Disrupts Mitochondrial Dynamics via Targeting Mitofusin 1 in Cisplatin-Induced Acute Kidney Injury by Yue Zhao, Yue Lang, Mingchao Zhang, Shaoshan Liang, Xiaodong Zhu, Zhihong Liu

    Published 2021
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  15. 55
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    Replacement of the C6ORF66 Assembly Factor (NDUFAF4) Restores Complex I Activity in Patient Cells by Dana Marcus, Michal Lichtenstein, Ann Saada, Haya Lorberboum-Galski

    Published 2013
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  16. 56
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    Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of <i>POLG</i> c.3286C>T Variant by Kanokwan Sriwattanapong, Kitiwan Rojnueangnit, Thanakorn Theerapanon, Chalurmpon Srichomthong, Thantrira Porntaveetus, Vorasuk Shotelersuk

    Published 2021
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  17. 57
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    Once we were bacteria... mitochondria to infinity and beyond by Flaminia Bardanzellu, Maria Cristina Pintus, Vassilios Fanos, Maria Antonietta Marcialis

    Published 2018
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  18. 58
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    Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review by Uday Praful Kundap, Yam Nath Paudel, Mohd. Farooq Shaikh

    Published 2020
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  19. 59
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    New variant in the FBXL4 gene - leading to mitochondrial DNA depletion syndrome by Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar

    Published 2024
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  20. 60
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    IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report by Yan Gong, Xiao Ping Lan, Sheng Guo

    Published 2023
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