Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Cited by (248)

Items 101–200 of 248

1. Historical perspective on mitochondrial medicine
   Salvatore DiMauro, Caterina Garone · 2010 · Developmental Disabilities Research Reviews
2. Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems
   Adam J. Kuszak, Michael Graham Espey, Marni J. Falk, Marissa A. Holmbeck, Giovanni Manfredi, Gerald S. Shadel, Hilary J. Vernon, Zarazuela Zolkipli‐Cunningham · 2017 · Annual Review of Pathology Mechanisms of Disease
3. A Brief History of Mitochondrial Pathologies
   Salvatore DiMauro · 2019 · International Journal of Molecular Sciences
4. <i>POLG2</i>disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity
   Young, Matthew J., Humble, Margaret M., DeBalsi, Karen L., Sun, Kathie Y., Copeland, William C. · 2015 · Human Molecular Genetics
5. Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms
   Maiko Kato, Masayuki Nakamura, Mio Ichiba, Akiyuki Tomiyasu, Hirochika Shimo, Itsuro Higuchi, Shuichi Ueno, Akira Sano · 2010 · Neuroscience Research
6. Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
   Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad, Sarah Mackenzie, Christopher Mark Watson, Sebastian Valenzuela, Xie Xie, Katja E. Menger, Kate Sergeant, Kate Craig et al. · 2023 · EMBO Molecular Medicine
7. Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes
   Antonella Spinazzola, Massimo Zeviani · 2009 · Advances in experimental medicine and biology
8. Inherited mitochondrial genomic instability and chemical exposures
   Sherine S.L. Chan · 2017 · Toxicology
9. Human mitochondrial DNA diseases and Drosophila models
   Zhe Chen, Fan Zhang, Hong Xu · 2019 · Journal of genetics and genomics/Journal of Genetics and Genomics
10. Genomics and Genetics in the Biology of Adaptation to Exercise
    Claude Bouchard, Tuomo Rankinen, James A. Timmons · 2011 · Comprehensive physiology
11. Mitochondria as the target for mildronate's protective effects in azidothymidine (AZT)‐induced toxicity of isolated rat liver mitochondria
    Jolanta Pupure, Maria A.S. Fernandes, Maria S. Santos, António J. Moreno, Ivars Kalvinsh, Vija Z. Klusa, Catarina Resende Oliveira · 2008 · Cell Biochemistry and Function
12. A mechanistic view of human mitochondrial DNA polymerase γ: Providing insight into drug toxicity and mitochondrial disease
    Christopher M. Bailey, Karen S. Anderson · 2010 · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
13. Heterozygous Polg mutation causes motor dysfunction due to mt DNA deletions
    Satoshi Fuke, Mizue Kametani, Kazuyuki Yamada, Takaoki Kasahara, Mie Kubota‐Sakashita, Gregory C. Kujoth, Tomas A. Prolla, Seiji Hitoshi, Tadafumi Kato · 2014 · Annals of Clinical and Translational Neurology
14. Adult-onset Mendelian PEO Associated with Mitochondrial Disease
    Ewen W. Sommerville, Patrick Francis Chinnery, Gráinne S. Gorman, Robert William Taylor · 2014 · Journal of Neuromuscular Diseases
15. Therapy Prospects for Mitochondrial DNA Maintenance Disorders
    Javier Ramón, Ferran Vila‐Julià, David Molina-Granada, Miguel Molina‐Berenguer, M Melia, Elena García‐Arumí, Javier Torres‐Torronteras, Yolanda Cámara, Ramón Martí · 2021 · International Journal of Molecular Sciences
16. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
    Hemant Varma, Phyllis L. Faust, Alejandro D. Iglesias, Stephen M. Lagana, Karen Wou, Michio Hirano, Salvatore DiMauro, Mahesh M. Mansukani, Kirsten E. Hoff, Péter L. Nagy et al. · 2016 · European Journal of Medical Genetics
17. Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability
    Naghia Ahmed, Dario Ronchi, Giacomo P. Comi · 2015 · International Journal of Molecular Sciences
18. Phenotypic rescue of aDrosophilamodel of mitochondrial ANT1 disease
    Suvi Vartiainen, Shanjun Chen, Jack Morikka, Tea Tuomela, Kaisa R. Luoto, Kevin M.C. O’Dell, Howard Trevor Jacobs · 2014 · Disease Models & Mechanisms
19. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
    Wenyi Wang, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin, Curtis J. Palm, Rita Horváth, Thomas Klopstock, David J. Cutler, Lynn M. Pique, Iris Schrijver et al. · 2010 · Nucleic Acids Research
20. Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function
    Luisa Iommarini, Susana Peralta, Alessandra Torraco, Francisca Díaz · 2015 · Mitochondrion
21. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits
    Craig, Kate, Young, Matthew J., Blakely, Emma L., Longley, Matthew J., Turnbull, Douglass M., Copeland, William C., Taylor, Robert W. · 2012 · Mitochondrion
22. Biochemical analysis of the G517V POLG variant reveals wild-type like activity
    Rajesh Kasiviswanathan, William C. Copeland · 2011 · Mitochondrion
23. Dysfunctional mitochondrial maintenance: what breaks the circle of life?
    Patrick Yu‐Wai‐Man, Patrick Francis Chinnery · 2012 · Brain
24. Mitochondrial Dysfunction and Oxidative Stress
    Tadafumi Kato, Flávio Pereira Kapczinski, Michael Berk · 2010 · Wiley eBooks
25. MMS Exposure Promotes Increased MtDNA Mutagenesis in the Presence of Replication-Defective Disease-Associated DNA Polymerase γ Variants
    Jeffrey D. Stumpf, William C. Copeland · 2014 · PLoS Genetics
26. Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations
    Karen L. DeBalsi, Matthew J. Longley, Kirsten E. Hoff, William C. Copeland · 2017 · Journal of Biological Chemistry
27. Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment
    Liam G. Fearnley, Mark F. Bennett, Melanie Bahlo · 2022 · Scientific Reports
28. Defective interaction between Pol2p and Dpb2p, subunits of DNA polymerase epsilon, contributes to a mutator phenotype in Saccharomyces cerevisiae
    Malgorzata M. Jaszczur, Justyna Rudzka, Joanna Kraszewska, Krzysztof Flis, Piotr Polaczek, Judith L. Campbell, Iwona J. Fijałkowska, Piotr Jonczyk · 2009 · Mutation research. Fundamental and molecular mechanisms of mutagenesis
29. Polymerase subunit gamma 2 affects porcine oocyte maturation and subsequent embryonic development
    Lee, Seul-Ki, Zhao, Ming-Hui, Zheng, Zhong, Kwon, Jung-Woo, Liang, Shuang, Kim, Seon-Hyang, Kim, Nam-Hyung, Cui, Xiang-Shun · 2015 · Theriogenology
30. Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction
    Dusanka Milenkovic, Adrián Sanz‐Moreno, Julia Calzada‐Wack, Birgit Rathkolb, Oana Veronica Amarie, Raffaele Gerlini, Juan Antonio Aguilar‐Pimentel, Jelena Misic, Marie‐Lune Simard, Eckhard Wolf et al. · 2022 · PLoS Genetics
31. Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations
    Rajesh Kasiviswanathan, Matthew J. Longley, Matthew J. Young, William C. Copeland · 2010 · Methods
32. Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase
    Bradley Peter, Géraldine Farge, Carlos Pardo-Hernández, Stefan Tångefjord, Maria Falkenberg · 2018 · Human Molecular Genetics
33. Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation
    Tiago M. Bernardino Gomes, Amy E. Vincent, Katja E. Menger, James Bruce Stewart, Thomas J. J. Nicholls · 2024 · Biochemical Journal
34. POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
    Lionel Van Maldergem, Arnaud Besse, Boél De Paepe, Emma L. Blakely, Vivek Appadurai, Margaret M. Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella et al. · 2016 · Annals of Clinical and Translational Neurology
35. Defects of the Respiratory Chain
    Arnold Münnich, Agnès Rötig, Marlène Rio · 2011 · Springer eBooks
36. Structure-specific roles for PolG2–DNA complexes in maintenance and replication of mitochondrial DNA
    Jessica L. Wojtaszek, Kirsten E. Hoff, Matthew J. Longley, Parminder Kaur, Sara N. Andres, Hong Wang, R. Scott Williams, William C. Copeland · 2023 · Nucleic Acids Research
37. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
    Kirsten E. Hoff, Karen L. DeBalsi, Maria J. Sanchez‐Quintero, Matthew J. Longley, Michio Hirano, Ali Naini, William C. Copeland · 2018 · PLoS ONE
38. Hypothesis driven single nucleotide polymorphism search (HyDn-SNP-S)
    Rebecca Swett, Angela Elias, Jeffrey Miller, Gregory E. Dyson, Gerardo Andrés Cisneros · 2013 · DNA repair
39. SLC25A4andC10ORF2Mutations in Autosomal Dominant Progressive External Ophthalmoplegia
    Kyung‐Pil Park, Hyang-Sook Kim, Eun‐Sook Kim, Young-Eun Park, Chang‐Hoon Lee, Dae‐Seong Kim · 2011 · Journal of Clinical Neurology
40. Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging
    Paramasivam Arumugam, Angamuthu Kanikannan Meena, Lalitha Pedaparthi, Vuskamalla Jyothi, Megha S. Uppin, Shaikh Afshan Jabeen, Sundaram Challa, Kumarasamy Thangaraj K · 2015 · Mitochondrion
41. Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study
    Josef Müller‐Höcker, Rita Horváth, S. Schäfer, H. Hessel, Wolfgang Müller‐Felber, J. Kühr, William C. Copeland, Peter Seibel · 2009 · Journal of Cellular and Molecular Medicine
42. Mutations in human DNA polymerase confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients
    Christal Dyane Sohl, Rajesh Kasiviswanathan, William C. Copeland, Karen S. Anderson · 2012 · Human Molecular Genetics
43. Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
    Rahul Gupta, Masahiro Kanai, Timothy Durham, Kristin Tsuo, Jason G. McCoy, Patrick Francis Chinnery, Konrad J. Karczewski, Sarah E. Calvo, Benjamin M. Neale, Vamsi Krishna Mootha · 2023 · medRxiv
44. Phenotypic Variations in 3 Children With POLG1 Mutations
    Prinyarat Burusnukul, Emily de los Reyes · 2009 · Journal of Child Neurology
45. A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms
    Kei Kasamo, Masayuki Nakamura, Yoko Daimou, Akira Sano · 2019 · Neuroscience Research
46. Mouse models of mtDNA replication diseases
    Henna Tyynismaa, Anu Suomalainen · 2010 · Methods
47. Mitochondrial DNA abnormalities in ophthalmological disease
    Gráinne S. Gorman, Robert William Taylor · 2011 · Saudi Journal of Ophthalmology
48. Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA
    Yolanda Cámara, Emiliano González‐Vioque, Mauro Scarpelli, Javier Torres‐Torronteras, Ramón Martí · 2013 · Drug Discovery Today
49. 163rd ENMC International Workshop: Nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12–14 December 2008, Naarden, The Netherlands
    Joanna Poulton, Ian James Holt · 2009 · Neuromuscular Disorders
50. Mitochondrial Disorders of DNA Polymerase γ Dysfunction: From Anatomic to Molecular Pathology Diagnosis
    Linsheng Zhang, Sherine S.L. Chan, Daynna J. Wolff · 2011 · Archives of Pathology & Laboratory Medicine
51. A novel mutation in the mitochondrial tRNAAla gene (m.5636T>C) in a patient with progressive external ophthalmoplegia
    Tomàs Pinós, Mario Marotta, Eduard Gallardo, Isabel Illa, Jordi Díaz‐Manera, Emiliano González‐Vioque, Elena García‐Arumí, Antoni L. Andreu, Ramón Martí · 2010 · Mitochondrion
52. Genetics of mitochondrial respiratory chain deficiencies
    Agnès Rötig · 2014 · Revue Neurologique
53. Mutations in SUCLA2: a tandem ride back to the Krebs cycle
    Patrick Francis Chinnery · 2007 · Brain
54. Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene
    Daojun Hong, Hongyan Bi, Sheng Yao, Zhaoxia Wang, Yun Yuan · 2009 · Muscle & Nerve
55. Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes
    Paramasivam Arumugam, Challa Venkatapathi, G Sandeep, Angamuthu Kanikannan Meena, Megha S. Uppin, Swati Mohapatra, Robert D. S. Pitceathly, Kumarasamy Thangaraj K · 2019 · Mitochondrion
56. De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans
    Yeonmi Lee, Tae Ho Kim, Miju Lee, Seongjun So, Mustafa Zafer Karagozlu, Go Hun Seo, In Hee Choi, Peter Chang-Whan Lee, Chong-Jai Kim, Eunju Kang et al. · 2021 · Genes
57. 232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 – 18 June 2017, Heemskerk, The Netherlands
    Carlos Lopez Gomez, Yolanda Cámara, Michio Hirano, Ramón Martí · 2022 · Neuromuscular Disorders
58. An overview of neurological and neuromuscular signs in mitochondrial diseases
    Annabelle Chaussenot, Véronique Paquis‐Flucklinger · 2014 · Revue Neurologique
59. Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
    Petra Pavelekova, A Dubiel, Anna Karłowicz, Szymon Ziętkiewicz, Małgorzata Rydzanicz, Viera Habalová, Victor Murcia Pienkowski, Miriam Skirkova, Vladimír Haň, Alexandra Mosejová et al. · 2019 · European Journal of Medical Genetics
60. Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation
    Diana Lehmann Urban, Leila Motlagh Scholle, Kerstin Alt, Albert Christian Ludolph, Angela Rosenbohm · 2020 · Diagnostics
61. Coordinated DNA polymerization by Polγ and the region of LonP1 regulated proteolysis
    Amanda A. Riccio, Asia J Brannon, J.M. Krahn, Jonathan Bouvette, Jason Grant Williams, Mario Juan Borgnia, William C. Copeland · 2024 · Nucleic Acids Research
62. Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment
    Hao Deng, Qun Zhang, Junhui Yi, Lamei Yuan · 2024 · Progress in Retinal and Eye Research
63. Decoding mitochondrial DNA damage and repair associated with H. pylori infection
    Aashirwad Shahi, Dawit Kidane · 2025 · Frontiers in Cellular and Infection Microbiology
64. Engineering Genetic Systems for Treating Mitochondrial Diseases
    Yoon‐ha Jang, Sae Ryun Ahn, Ji-yeon Shim, Kwang‐il Lim · 2021 · Pharmaceutics
65. Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions
    Yue Hou, Xutong Zhao, Zhiying Xie, Meng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang · 2022 · Molecular Genetics & Genomic Medicine
66. Mouse models of DNA polymerases
    Miriam Rose Menezes, Joann Balazs Sweasy · 2012 · Environmental and Molecular Mutagenesis
67. Instabilité du génome mitochondrial et pathologies associées
    Emmanuelle Sarzi, Agnès Rötig · 2010 · médecine/sciences
68. Do mitochondrial DNA mutations have a role in neurodegenerative disease?
    Kim J. Krishnan, Amy Katherine Reeve, Douglass M. Turnbull · 2007 · Biochemical Society Transactions
69. Changes in Mitochondrial Size and Morphology in the RPE and Photoreceptors of the Developing and Ageing Zebrafish
    Thomas Burgoyne, Maria Toms, Chris Way, Dhani Tracey‐White, Clare E. Futter, Mariya Moosajee · 2022 · Cells
70. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature
    Max Borsche, Marija Dulovic‐Mahlow, Hauke Baumann, Sinem Tunç, Theresa Lüth, Susen Schaake, Selin Özcakir, Ana Westenberger, Alexander Maximilian Münchau, Evelyn Knappe et al. · 2023 · The Cerebellum
71. Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study
    Mika Henrik Martikainen, Reetta Hinttala, Matias Röyttä, Satu K. Jääskeläinen, Maria Wendelin‐Saarenhovi, Riitta K Parkkola, Kari Majamaa · 2012 · Neuroepidemiology
72. Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions
    Matthew J. Young, William C. Copeland · 2012 · Springer eBooks
73. Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
    Dario Ronchi, Elisa Fassone, Andreina Bordoni, Monica Sciacco, Valeria Lucchini, Alessio Di Fonzo, Mafalda Rizzuti, Irene Colombo, Laura Napoli, Patrizia Ciscato et al. · 2011 · Journal of the Neurological Sciences
74. Neuromuscular Manifestations in Mitochondrial Diseases in Children
    Andrés Nascimento, C. Ortez, Cristina Jou, Mar O’Callaghan, Federico J. Ramos, Àngels García‐Cazorla · 2016 · Seminars in Pediatric Neurology
75. An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice
    Caroline M. Gorvin, Bushra N Ahmad, Michael Stechman, Nellie Y. Loh, Tertius Hough, Paul Leo, Mhairi S. Marshall, Siddharth Sethi, Liz Bentley, Siân E. Piret et al. · 2018 · Journal of Bone and Mineral Research
76. Mitochondrial Medicine
    Douglas C. Wallace, Marie T. Lott, Vincent Procaccio · 2013 · Elsevier eBooks
77. mtDNA replication, maintenance, and nucleoid organization
    Mara Doimo, Annika Pfeiffer, Paulina H. Wanrooij, Sjoerd Wanrooij · 2020 · Elsevier eBooks
78. [Mitochondrial disease and mitochondrial DNA depletion syndromes].
    Chin‐Chang Huang, Chang-Huang Hsu · 2009 · PubMed
79. Multiple Deletions in Mitochondrial DNA in a Patient with Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism
    Yuko Ohnuki, Kazumi Takahashi, Eri Iijima, Wakoh Takahashi, Shingo Suzuki, Yuki Ozaki, Ruriko Kitao, Masatoshi Mihara, Tadayuki Ishihara, M. Nakamura et al. · 2014 · Internal Medicine
80. MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis – A case report
    Anjan Pyal, Paramasivam Arumugam, Angamuthu Kanikannan Meena, Velpula Bhagya Bhavana, Kumarasamy Thangaraj K · 2017 · Mitochondrion
81. A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
    Su Jeong Lee, Sumaira Kanwal, Da Hye Yoo, Hyeri Park, Byung‐Ok Choi, Ki Wha Chung · 2019 · Journal of Clinical Neurology
82. Advances Towards Therapeutic Approaches for mtDNA Disease
    Iman Al Khatib, Timothy E. Shutt · 2019 · Advances in experimental medicine and biology
83. Molecular diagnostics and mitochondrial dysfunction: a future perspective
    Gabriele Siciliano, Livia Pasquali, Michelangelo Mancuso, Luigi Murri · 2008 · Expert Review of Molecular Diagnostics
84. Prospective therapeutic approaches in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
    Raquel Cabrera-Pérez, Javier Torres‐Torronteras, Ferran Vila‐Julià, Francisco José Ortega, Yolanda Cámara, Jordi Barquinero, Ramón Martí · 2015 · Expert Opinion on Orphan Drugs
85. Functional Analysis of Mutant Mitochondrial DNA Polymerase Proteins Involved in Human Disease
    Sherine S.L. Chan, William C. Copeland · 2009 · Methods in molecular biology
86. A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions
    Koji Tanaka, Takahisa Tateishi, Nobutoshi Kawamura, Yasumasa Ohyagi, Michiyo Urata, Jun‐ichi Kira · 2013 · Rinsho Shinkeigaku
87. Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity
    Tuomas Komulainen · 2015
88. Mitochondrial Disorders
    Renkui Bai, Jaimie Higgs · 2016 · Springer eBooks
89. Relapsing neuropathy in an 18-year-old woman
    Lionel Ginsberg, Anthony H.V. Schapira, Jan‐Willem Taanman · 2007 · The Lancet Neurology
90. Mitochondrial Myopathies and Related Diseases
    Balan Louis Gaspar, Rakesh Kumar Vasishta, Bishan Dass Radotra · 2018 · Springer eBooks
91. Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances
    Shruti Somai, Chioma H. Aloh, Dillon E. King, William C. Copeland · 2025 · International Journal of Molecular Sciences
92. Genetics of Mitochondrial Myopathies
    Jin‐Hong Shin, Dae‐Seong Kim · 2013 · Journal of genetic medicine
93. Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
    Arianna Manini, Megi Meneri, Carmelo Rodolico, Stefania Paola Corti, António Toscano, Giacomo P. Comi, Olimpia Musumeci, Dario Ronchi · 2022 · Frontiers in Neurology
94. Comparative Genomics Provides Insights into Adaptive Evolution in Tactile-Foraging Birds
    Li Wang, Li Sun, Qiu‐Hong Wan, Sheng‐Guo Fang · 2022 · Genes
95. Palatal Tremor in POLG ‐Associated Ataxia
    Madhu Nagappa, Parayil Sankaran Bindu, Arun B. Taly, Kothari Sonam, Shwetha Chiplunkar, Rakesh Kumar, Narayanappa Gayathri, M.M. Srinivas‐Bharath, Hanumanthapura Ramalingaiah Arvinda, Sanjib Sinha et al. · 2015 · Movement Disorders Clinical Practice
96. Copy number variations of the mitochondrial DNA as potential cause of mitochondrial diseases
    Mathematisch-naturwissenschaftlichen Fakultät I · 2010
97. Mitochondrial Disorders Due to Mutations in the Nuclear Genome
    Patrick Francis Chinnery · 2014 · Elsevier eBooks
98. Accumulated mtDNA mutations are linked to specific impairments in NADH-linked respiration
    Edziu Franczak, McLane M. Montgomery, Zoe S Terwilliger, Raphael Taiwo Aruleba, Polina M. Krassovskaia, Ilya N. Boykov, James T. Hagen, Emely A. Pacheco, Brett R. Chrest, Tonya N. Zeczycki et al. · 2026 · iScience
99. Cardiotoxicity and HIV/AIDS Therapy
    Christopher A. Koczor, William Lewis · 2017 · Elsevier eBooks
100. Mtochonrial Neurology: A Tale of Two Genomes
     Salvatore DiMauro, Emanuele Barca · 2021 · Springer eBooks