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Journal of Translational Genetics and Genomics
C O NT E NT S
Diagnosis and Treatment of Mitochondrial Disease
1 Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment
Bridget E. Bax
J Transl Genet Genom 2020;4:1-16. http://dx.doi.org/10.20517/jtgg.2020.08
2 Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation
sequencing era
Andres Berardo, Catarina M. Quinzii
J Transl Genet Genom 2020;4:22-35. http://dx.doi.org/10.20517/jtgg.2020.02
3 Cryogenic electron paramagnetic resonance spectroscopy of flash-frozen tissue for characterization of
mitochondrial disease
Brian Bennett
J Transl Genet Genom 2020;4:36-49. http://dx.doi.org/10.20517/jtgg.2020.17
4 Mitochondrial translation defects and human disease
Bryn D. Webb, George A. Diaz, Pankaj Prasun
J Transl Genet Genom 2020;4:71-80. http://dx.doi.org/10.20517/jtgg.2020.11
5 The North American mitochondrial disease registry
Xiomara Q. Rosales, John L. P. Thompson, Richard Haas, Johan L. K. Van Hove, Amel Karaa, Danuta Krotoski,
Kristin Engelstad, Richard Buchsbaum, Salvatore DiMauro, Michio Hirano, The North American
J Transl Genet Genom 2020;4:81-90. http://dx.doi.org/10.20517/jtgg.2020.12
6 Advancement in the diagnosis of mitochondrial diseases
Siti Aishah Sulaiman, Zamzureena Mohd Rani, Fara Zela Mohd Radin, Nor Azian Abdul Murad
J Transl Genet Genom 2020;4:159-87. http://dx.doi.org/10.20517/jtgg.2020.27
7 New diagnostic pathways for mitochondrial disease
Eloise Watson, Ryan Davis, Carolyn M. Sue
J Transl Genet Genom 2020;4:188-202. http://dx.doi.org/10.20517/jtgg.2020.31
8 Spectrum of movement disorders in mitochondrial diseases
Olimpia Musumeci, Rosaria Oteri, Antonio Toscano
J Transl Genet Genom 2020;4:221-37. http://dx.doi.org/10.20517/jtgg.2020.22