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Mitochondrial encephalomyopathies
Current Opinion in Neurology, 1998 It is nearly a decade since the discovery of the first mutations in mitochondrial DNA associated with mitochondrial encephalomyopathy, and the pace of discovery of new mitochondrial DNA mutations continues unabated. Nuclear gene defects in these disorders have been more difficult to identify; only one is known, but others have been mapped by linkage ...openaire +2 more sourcesMitochondrial encephalomyopathy
Neurology, 1984 We describe a 29-year-old man with mitochondrial encephalomyopathy. The patient's disorder was characterized by lactic acidosis, hemiparesis, seizures, aphasia, and hemianopia. CT revealed low-density areas that corresponded to the symptoms. His 56-year-old mother is also involved subclinically, demonstrating that muscle biopsy is an important ...T, Yamamoto, H, Beppu, T, Tsubakiopenaire +2 more sourcesNeuropsychological status of mitochondrial encephalomyopathies
European Journal of Neurology, 1995 We studied 15 patients suffering from mitochondrial encephalomyopathies (MEM) by a neuropsychological screening procedure. Eight of the patients were diagnosed as having progressive external ophthalmoplegia (PEO), four mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS), and three Kearns‐Sayre syndrome (KSS).C J, Lang, P, Brenner, D, Heub, A, Engelhardt, H, Reichmann, P, Seibel, B, Neundörfer +6 moreopenaire +2 more sourcesMitochondrial encephalomyopathies: therapeutic approaches
Neurological Sciences, 2000 Therapy of mitochondrial encephalomyopathies (defined restrictively as defects of the mitochondrial respiratory chain) is woefully inadequate, despite great progress in our understanding of the molecular bases of these disorders. We review available and experimental therapeutic approaches, which fall into seven categories: (1) palliative therapy; (2 ...S, DiMauro, M, Hirano, E A, Schonopenaire +2 more sources[Mitochondrial encephalomyopathy].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1990 Modern concepts regarding mitochondrial encephalomyopathies (ME) are summarized. Utilizing recent techniques of molecular biology we studied some cases of ME referred to the Institute of Clinical Neurology of Milan University. With these techniques we demonstrated different mitochondrial DNA deletions either in patients' muscle or in culture.T, Ozawa, M, Tanakaopenaire +3 more sources[Mitochondrial encephalomyopathies].
Acta medica portuguesa, 1994 Mitochondrial Encephalomyopathies are primary disorders of energy metabolism recently described. They are the result of mitochondrial abnormalities with a wide spectrum of syndromes implying a multisystemic but predominantly muscular and cerebral involvement.R, Almeida, A, Sena, M, Gonçalvesopenaire +1 more sourceMitochondrial Encephalomyopathy
2009 Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Alexander K. C. Leung, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Toshio Nishikimi, Patrick T. S. Ma, Siobhan D. Ma, Alexander K. C. Leung, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, Alexander K. C. Leung, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Alexander K. C. Leung, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander K. C. Leung, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Dieter Metze, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Alexander K. C. Leung, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Thomas Klopstock, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Karin Jurkat-Rott, Frank Lehmann-Horn, Olayinka Raheem, Tiina Suominen, Bjarne Udd +194 moreopenaire +1 more source
