Mitochondrial DNA: impacting central and peripheral nervous systems.

Nobuyoshi Fukuhara, Susumu Tokiguchi, Kenichi Shirakawa, Tadao Tsubaki, Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome?: Light- and electron-microscopic studies of two cases and review of literature☆ Journal of the Neurological Sciences. ,vol. 47, pp. 117- 133 ,(1980) , 10.1016/0022-510X(80)90031-3

Eric A. Schon, June R. Aprille, Salvatore DiMauro, Carlos T. Moraes, Eduardo Bonilla, Sara Shanske, Francesca Andreetta, Hans Jürgen Tritschler, mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. American Journal of Human Genetics. ,vol. 48, pp. 492- 501 ,(1991)

Gert Van Goethem, Bart Dermaut, Ann Löfgren, Jean-Jacques Martin, Christine Van Broeckhoven, Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nature Genetics. ,vol. 28, pp. 211- 212 ,(2001) , 10.1038/90034

Jianming Wang, Hans Wilhelmsson, Caroline Graff, Hong Li, Anders Oldfors, Pierre Rustin, Jens C. Brüning, C. Ronald Kahn, David A. Clayton, Gregory S. Barsh, Peter Thorén, Nils-Göran Larsson, Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression Nature Genetics. ,vol. 21, pp. 133- 137 ,(1999) , 10.1038/5089

Gerald Pfeffer, Kari Majamaa, Douglass M Turnbull, David Thorburn, Patrick F Chinnery, Treatment for mitochondrial disorders Cochrane Database of Systematic Reviews. ,vol. 2012, ,(2012) , 10.1002/14651858.CD004426.PUB3

Kazuto Nakada, Kimiko Inoue, Tomoko Ono, Kotoyo Isobe, Atsuo Ogura, Yu-Ichi Goto, Ikuya Nonaka, Jun-Ichi Hayashi, Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA Nature Medicine. ,vol. 7, pp. 934- 940 ,(2001) , 10.1038/90976

M P King, Y Koga, M Davidson, E A Schon, Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Molecular and Cellular Biology. ,vol. 12, pp. 480- 490 ,(1992) , 10.1128/MCB.12.2.480

Kei Okatsu, Keiko Saisho, Midori Shimanuki, Kazuto Nakada, Hiroshi Shitara, Yu-shin Sou, Mayumi Kimura, Shigeto Sato, Nobutaka Hattori, Masaaki Komatsu, Keiji Tanaka, Noriyuki Matsuda, p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria Genes to Cells. ,vol. 15, pp. no- no ,(2010) , 10.1111/J.1365-2443.2010.01426.X

J P Masucci, M Davidson, Y Koga, E A Schon, M P King, In Vitro Analysis of Mutations Causing Myoclonus Epilepsy with Ragged-Red Fibers in the Mitochondrial tRNA Lys Gene: Two Genotypes Produce Similar Phenotypes Molecular and Cellular Biology. ,vol. 15, pp. 2872- 2881 ,(1995) , 10.1128/MCB.15.5.2872

Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, Enrico Bertini, Valerio Carelli, Giacomo Pietro Comi, Alice Donati, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Serenella Servidei, Paola Tonin, Antonio Toscano, Graziella Uziel, Claudio Bruno, Elena Caldarazzo Ienco, Massimiliano Filosto, Costanza Lamperti, Michela Catteruccia, Isabella Moroni, Olimpia Musumeci, Elena Pegoraro, Dario Ronchi, Filippo Maria Santorelli, Donato Sauchelli, Mauro Scarpelli, Monica Sciacco, Maria Lucia Valentino, Liliana Vercelli, Massimo Zeviani, Gabriele Siciliano, The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? Journal of Neurology. ,vol. 261, pp. 504- 510 ,(2014) , 10.1007/S00415-013-7225-3