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1

James, Holt Ian, ed. Genetics of mitochondrial diseases. Oxford University Press, 2003.

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2

Navas, Placido, and Leonardo Salviati, eds. Mitochondrial Diseases. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-70147-5.

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3

Lestienne, Patrick, ed. Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5.

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4

N, Gellerich Frank, Zierz S, and Colloquium on Mitochondria and Myopathies (1st : 1995 : Halle an der Saale, Germany), eds. Detection of mitochondrial diseases. Kluwer Academic, 1997.

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5

service), ScienceDirect (Online, ed. Mitochondrial function: Mitochondrial protein kinases, protein phosphatases and mitochondrial diseases. Academic Press/Elsevier, 2009.

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6

Sun, Hongzhi, and Xiangdong Wang, eds. Mitochondrial DNA and Diseases. Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-6674-0.

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7

Gellerich, Frank Norbert, and Stephan Zierz, eds. Detection of Mitochondrial Diseases. Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-6111-8.

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8

Anna, Gvozdjáková, ed. Mitochondrial medicine: Mitochondrial metabolism, diseases, diagnosis and therapy. Springer, 2008.

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9

S, DiMauro, Hirano Michio, and Schon Eric A, eds. Mitochondrial medicine. Informa Healthcare, 2006.

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10

M, Smeitink Jan A., Sengers Rob C. A, and Trijbels J. M. Frans, eds. Oxidative phosphorylation in health and disease. Landes Bioscience/Eurekah.com, 2004.

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11

Beal, M. Flint. Mitochondrial dysfunction and oxidative damage in neurodegenerative diseases. R.G. Landes Co., 1995.

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12

C, St John Justin, ed. The mitochondrion in the germline and early development. Academic Press, 2007.

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13

Reeve, Amy Katherine. Mitochondrial Dysfunction in Neurodegenerative Disorders. Springer-Verlag London Limited, 2012.

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14

Marín-García, José. Mitochondria and their role in cardiovascular disease. Springer, 2013.

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15

Hidaka, Takuya. Sequence-Specific DNA Binders for the Therapy of Mitochondrial Diseases. Springer Singapore, 2022. http://dx.doi.org/10.1007/978-981-16-8436-4.

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16

Siegmund, Stephanie. Investigations into pathophysiologic mechanisms and treatment of primary mitochondrial diseases. [publisher not identified], 2018.

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17

R, Sanberg Paul, Nishino Hitoo, and Borlongan Cesario V, eds. Mitochondrial inhibitors and neurodegenerative disorders. Humana Press, 2000.

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18

Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. Springer, 2011.

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19

Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. Springer London, Limited, 2012.

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20

Gorman, Gráinne S., and Patrick F. Chinnery. Mitochondrial diseases. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0011.

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This chapter critiques ten seminal papers that epitomize the advent and evolution of mitochondrial medicine from the latter half of the last century up until today. These important bodies of work span the pre-molecular and molecular eras, from when diagnostic yield was based on meticulous clinical and biochemical characterization of patients, up until now, with targeted next-generation sequencing revolutionizing our diagnostic approach. The first clinical description of a mitochondrial disorder is reviewed and the subsequent landmark papers that define current clinical and molecular understand
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21

Taskin, Eylem, Celal Guven, and Yusuf Sevgiler, eds. Mitochondrial Diseases. InTech, 2018. http://dx.doi.org/10.5772/67963.

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22

Wiley. Mitochondrial Diseases. Wiley & Sons, Incorporated, John, 2013.

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23

Taskin, Eylem, Celal Guven, and Yusuf Sevgiler. Mitochondrial Diseases. IntechOpen, 2018.

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24

Hirano, Michio, Rita Horvath, and Patrick Francis Chinnery. Mitochondrial Diseases. Elsevier, 2022.

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25

Horvath, Rita, MIchi Hirano, and Patrick Francis Chinnery. Mitochondrial Diseases. Elsevier, 2022.

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26

Wiley. Mitochondrial Diseases. Wiley & Sons, Incorporated, John, 2013.

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27

Mitochondria in health and disease. Dekker, 2005.

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28

Berdanier, Carolyn D. Mitochondria in Health and Disease. Taylor & Francis Group, 2005.

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29

Berdanier, Carolyn D. Mitochondria in Health and Disease. Taylor & Francis Group, 2005.

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30

Knott, Andrew B., and Ella Bossy-Wetzel. Mitochondrial Changes and Bioenergetics in Neurodegenerative Diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190233563.003.0012.

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Mitochondria are dynamic organelles that are of critical importance for cellular survival and health. Because mitochondria play central roles in energy production and synaptic maintenance, neurons are believed to be particularly vulnerable to mitochondrial dysfunction. The discovery that genetic mutations in genes coding for mitochondrial proteins cause neurodegenerative conditions further hinted at the likelihood that mitochondrial dysfunction is a key pathway of neurodegeneration. Indeed, a wealth of research has identified mitochondrial dysfunction as an early and shared event of all common
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31

Mitochondrial function and dysfunction. Academic Press, 2002.

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32

Wang, Xiangdong, and Hongzhi Sun. Mitochondrial DNA and Diseases. Springer, 2018.

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33

Mitochondrial Diseases [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.91518.

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34

Wang, Xiangdong, and Hongzhi Sun. Mitochondrial DNA and Diseases. Springer, 2017.

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35

Gellerich, F. N. Detection of Mitochondrial Diseases. Springer, 2012.

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36

Gellerich, F. N., and S. Zierz. Detection of Mitochondrial Diseases. Springer London, Limited, 2012.

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37

Detection of Mitochondrial Diseases. Springer, 2011.

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38

Mitochondrial DNA and Diseases. Springer, 2017.

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39

(Contributor), S. Di Mauro, ed. Mitochondrial Disorders. Springer, 2002.

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40

Gvozdjáková, Anna. Mitochondrial Medicine: Mitochondrial Metabolism, Diseases, Diagnosis and Therapy. Springer, 2014.

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41

Mitochondrial Function, Part B: Mitochondrial Protein Kinases, Protein Phosphatases and Mitochondrial Diseases. Elsevier, 2009. http://dx.doi.org/10.1016/s0076-6879(09)x0026-1.

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42

Berdanier, Carolyn D. Mitochondria in Health and Disease. Taylor & Francis Group, 2019.

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43

Weissman, Jacqueline, and Lisa Emrick. Diseases of Mitochondrial Energy Metabolism. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0061.

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Mitochondrial disorders are a group of inherited diseases of energy metabolism caused by impairment of mitochondrial function-primarily disorders of the oxidative phosphorylation system but also the more recently described disorders of mitochondrial transport and fission. This review will focus on primary disorders of mitochondrial oxidative phosphorylation. The neurologic system is one of the most profoundly affected by mitochondrial dysfunction and the effects can be varied and widespread. This has led to these diseases being commonly called mitochondrial encephalomyopathies. The heterogenei
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44

Hall, Andrew, and Shamima Rahman. Mitochondrial diseases and the kidney. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0340.

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Mitochondrial disease can affect any organ in the body including the kidney. As increasing numbers of patients with mitochondrial disease are either surviving beyond childhood or being diagnosed in adulthood, it is important for all nephrologists to have some understanding of the common renal complications that can occur in these individuals. Mitochondrial proteins are encoded by either mitochondrial or nuclear DNA (mtDNA and nDNA, respectively); therefore, disease causing mutations may be inherited maternally (mtDNA) or autosomally (nDNA), or can arise spontaneously. The commonest renal pheno
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45

Sciarretta, Sebastiano, Richard N. Kitsis, and Junichi Sadoshima, eds. Mitochondrial Dysfunction and Cardiovascular Diseases. Frontiers Media SA, 2021. http://dx.doi.org/10.3389/978-2-88966-556-3.

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46

Mitochondrial Diseases: Models and Methods. Springer, 2011.

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47

Lestienne, Patrick, ed. Mitochondrial Diseases: Models and Methods. SPRINGER-VERLAG, 1999.

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48

Natarajan, Viswanathan, and Narasimham L. Parinandi. Mitochondrial Function in Lung Health and Disease. Springer, 2014.

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49

Natarajan, Viswanathan, and Narasimham L. Parinandi. Mitochondrial Function in Lung Health and Disease. Humana, 2016.

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50

Mitochondrial Disorders in Neurology. Butterworth-Heinemann, 2002.

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