Mitochondrial disorders - Info and Reading Options

"Mitochondrial disorders" Table Of Contents:

• 1- Mitochondrial DNA mutations : an overview of clinical and molecular aspects / William J. Craigen
• 2- Nuclear gene defects in mitochondrial disorders / Fernando Scaglia
• 3- Diagnostic challenges of mitochondrial disorders : complexities of two genomes / Brett H. Graham
• 4- Biochemical analyses of the electron transport chain complexes by spectrophotometry / Ann E. Frazier and David R. Thorburn
• 5- Measurement of mitochondrial oxygen consumption using a Clark electrode / Zhihong Li and Brett H. Graham
• 6- Mitochondrial respiratory chain : biochemical analysis and criterion for deficiency in diagnosis / Manuela M. Grazina
• 7- Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity / Douglas Kerr, George Grahame, and Ghunwa Nakouzi
• 8- Assessment of thymidine phosphorylase function : measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity / Ramon Martí, Luis C. López, and Michio Hirano
• 9- Measurement of mitochondrial dNTP pools / Ramon Martí, Beatriz Dorado, and Michio Hirano
• 10- Measurement of oxidized and reduced coenzyme Q in biological fluids, cells, and tissues : an HPLC-EC method / Peter H. Tang and Michael V. Miles
• 11- Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS / Si Houn Hahn, Sandra Kerfoot, and Valeria Vasta
• 12- Morphological assessment of mitochondrial respiratory chain function on tissue sections / Kurenai Tanji
• 13- Blue native polyacrylamide gel electrophoresis : a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation / Scot C. Leary
• 14- Radioactive labeling of mitochondrial translation products in cultured cells / Florin Sasarman and Eric A. Shoubridge
• 15- Transmitochondrial cybrids : tools for functional studies of mutant mitochondria / Sajna Antony Vithayathil, Yewei Ma, and Benny Abraham Kaipparettu
• 16- Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines / Stephen Dingley, Kimberly A. Chapman, and Marni J. Falk
• 17- Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans / Erzsebet Polyak, Zhe Zhang, and Marni J. Falk
• 18- Analysis of common mitochondrial DNA mutations by allele-specific oligonucleotide and southern blot hybridization / Sha Tang ... [et al.]
• 19- Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders / Megan L. Landsverk, Megan E. Cornwell, and Meagan E. Palculict
• 20- Utility of array CGH in molecular diagnosis of mitochondrial disorders / Jing Wang and Mrudula Rakhade
• 21- Quantification of mtDNA mutation heteroplasmy (ARMS qPCR) / Victor Venegas and Michelle C. Halberg
• 22- Measurement of mitochondrial DNA copy number / Victor Venegas and Michelle C. Halberg
• 23- Determination of the clinical significance of an unclassified variant / Victor Wei Zhang and Jing Wang.

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