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Статті в журналах з теми "Mitochondriopathies":
Finsterer, J. "Mitochondriopathies." European Journal of Neurology 11, no. 3 (March 2004): 163–86. http://dx.doi.org/10.1046/j.1351-5101.2003.00728.x.
Chinnery, P. F., and P. G. Griffiths. "Optic mitochondriopathies." Neurology 64, no. 6 (March 21, 2005): 940–41. http://dx.doi.org/10.1212/01.wnl.0000157285.93611.b2.
Swerdlow, Russell H. "The Neurodegenerative Mitochondriopathies." Journal of Alzheimer's Disease 17, no. 4 (July 23, 2009): 737–51. http://dx.doi.org/10.3233/jad-2009-1095.
Tardieu, M., B. Barret, and S. Blanche. "Antiviraux et mitochondriopathies." Archives de Pédiatrie 8 (May 2001): 327–28. http://dx.doi.org/10.1016/s0929-693x(01)80062-2.
Ben Chehida, A., E. Ben Arab, S. Khatrouch, M. Zribi, H. Boudabous, and M. S. Abdelmoula. "Manifestations endocriniennes dans les mitochondriopathies." Annales d'Endocrinologie 83, no. 5 (October 2022): 301–2. http://dx.doi.org/10.1016/j.ando.2022.07.074.
Griggs, Robert C., and George Karpati. "Muscle Pain, Fatigue, and Mitochondriopathies." New England Journal of Medicine 341, no. 14 (September 30, 1999): 1077–78. http://dx.doi.org/10.1056/nejm199909303411411.
Ruitenbeek, W., R. Sengers, R. Van Laack, F. Trijbels, J. Bakkeren, A. Janssen, and O. Van Diggelen. "150 ANTENATAL DIAGNOSIS OF MITOCHONDRIOPATHIES." Pediatric Research 20, no. 10 (October 1986): 1059. http://dx.doi.org/10.1203/00006450-198610000-00205.
Gomes, Sérgio. "A review of mitochondrial disease in dogs." Companion Animal 26, no. 11 (December 2, 2021): 257–64. http://dx.doi.org/10.12968/coan.2021.0018.
Liskova, Alena, Marek Samec, Lenka Koklesova, Erik Kudela, Peter Kubatka, and Olga Golubnitschaja. "Mitochondriopathies as a Clue to Systemic Disorders—Analytical Tools and Mitigating Measures in Context of Predictive, Preventive, and Personalized (3P) Medicine." International Journal of Molecular Sciences 22, no. 4 (February 18, 2021): 2007. http://dx.doi.org/10.3390/ijms22042007.
Swerdlow, Russell. "Mitochondrial Medicine and the Neurodegenerative Mitochondriopathies." Pharmaceuticals 2, no. 3 (December 3, 2009): 150–67. http://dx.doi.org/10.3390/ph2030150.
Дисертації з теми "Mitochondriopathies":
SANGLA, IBAN. "Mitochondriopathies musculaires sans atteinte oculaire." Aix-Marseille 2, 1993. http://www.theses.fr/1993AIX20802.
DI, MARCO JEAN-NOEL. "Le syndrome de kearns-sayre : situation actuelle au sein des mitochondriopathies." Aix-Marseille 2, 1990. http://www.theses.fr/1990AIX20005.
BONNET, HUGUES. "Rhabdomyolyse familiale et mitochondriopathie." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20209.
Lüsebrink, Jessica. "Taurinmangel und Mitochondrienfunktion." Saarbrücken VDM Verlag Dr. Müller, 2008. http://d-nb.info/988823497/04.
Schülke-Gerstenfeld, Markus. "Klinische, biochemische und molekulargenetische Untersuchungen an Kindern mit Mitochondriopathien." [S.l.] : [s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=964717859.
Henkes, Greta. "Neuropathologie primärer und sekundärer Mitochondriopathien im Rahmen entzündlicher Muskelerkrankungen." Doctoral thesis, Universitätsbibliothek Leipzig, 2011. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-71313.
Schülke-Gerstenfeld, Markus. "Klinische, biochemische und molekulargenetische Untersuchungen an Kindern mit Mitochondriopathien." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2002. http://dx.doi.org/10.18452/13805.
Mitochondria have a crucial role in the energy metabolism of the cell, since they constitute the main place for ATP-production. Defects in the mitochondrial metabolism are associated with a wide spectrum of diseases. Due to their high energy demand brain and muscles are regularly affected (epilepsy, ataxia, myopathy). This work describes the cloning of nuclear encoded genes of complex I of the mitochondrial respiratory chain. The main interest is directed towards the 51 kDa subunit (NDUFV1) since, due to its NADH2-binding domain, it constitutes the entry port into complex I. Therein the first mutations are described, which lead to severe developmental delay, leukencephalopathy and muscular hypotonia in infants. Additionally patients with isolated complex III-deficiency are examined molecularly and are classified according to their clinical symptoms. In one patient isolated complex III deficiency and a mutation in the mitochondrial cytochrome b-gene are associated with septo-optic dysplasia. At the end problems with prenatal diagnosis of mitochondrial diseases and the peculiarities of genetic counselling of affected families are discussed.
Anheier, Maximilian [Verfasser], and M. [Akademischer Betreuer] Deschauer. "Quantifizierung myohistologischer Mitochondrienveränderungen bei Mitochondriopathien / Maximilian Anheier. Betreuer: M. Deschauer." Halle, Saale : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2011. http://d-nb.info/1025301412/34.
Dolly, Adeline. "Cachexie cancéreuse : composition corporelle, structure et métabolisme du muscle squelettique." Thesis, Tours, 2019. http://www.theses.fr/2019TOUR3808.
Cancer cachexia is a multifactorial syndrome characterized by progressive loss of skeletal muscle, leading to decreased quality of life, response to cancer treatments, and patient survival. Due to the physio pathological complexity of this clinical syndrome, there is currently no cure to cancer cachexia.Despite recent discoveries, the mechanisms underlying skeletal muscle wasting are not clearly understood. Recent preclinical and clinical studies highlighted possible alterations in mitochondrial and lipid metabolism. Furthermore, body composition could be affected not only by the tumor, but also by anti-cancer treatments.During this PhD, the aims were to study the links between body composition and bevacizumab-based chemotherapy treatment (clinical study STIC-Avastin (NCT00489697)); or with skeletal muscle structure and metabolism, in the context of cancer cachexia (clinical protocols METERMUCADIG (NCT02573974) and METERMUS-IMC (NCT03027479))
Broeker, Carsten [Verfasser], and Richard [Akademischer Betreuer] Warth. "Mitochondriopathien als Ursache des renalen Fanconi-Syndroms / Carsten Broeker. Betreuer: Richard Warth." Regensburg : Universitätsbibliothek Regensburg, 2015. http://d-nb.info/1092188088/34.
Книги з теми "Mitochondriopathies":
Wong, Lee-Jun C. Mitochondrial disorders: Biochemical and molecular analysis. New York: Humana Press, 2012.
Mitochondriopathien. Elsevier, 2016. http://dx.doi.org/10.1016/c2012-0-07448-0.
James, Holt Ian, ed. Genetics of mitochondrial diseases. Oxford: Oxford University Press, 2003.
Flint, Beal M., Howell Neil 1946-, and Bodis-Wollner Ivan 1937-, eds. Mitochondria and free radicals in neurodegenerative diseases. New York: Wiley-Liss, 1997.
Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. Springer, 2011.
Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. Springer, 2011.
Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. Edited by Patrick Lestienne. SPRINGER-VERLAG, 1999.
Частини книг з теми "Mitochondriopathies":
Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, et al. "Primary Mitochondriopathies." In Encyclopedia of Molecular Mechanisms of Disease, 1721. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6269.
Desnuelle, C., and V. Paquis. "Exercise Intolerance and Mitochondriopathies." In Exercise Intolerance and Muscle Contracture, 67–73. Paris: Springer Paris, 1999. http://dx.doi.org/10.1007/978-2-8178-0855-0_7.
Lagler, Florian B. "Current and Emerging Therapies for Mitochondriopathies." In Handbook of Experimental Pharmacology, 57–65. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/164_2019_264.
Angelini, C., A. Martinuzzi, M. Fanin, M. Rosa, R. Carrozzo, and L. Vergani. "Various clinical presentation of mitochondriopathies: clinical and therapeutic considerations." In Molecular Basis of Neurological Disorders and Their Treatment, 255–62. Dordrecht: Springer Netherlands, 1991. http://dx.doi.org/10.1007/978-94-011-3114-8_24.
Leung, George P. H. "Iatrogenic Mitochondriopathies: A Recent Lesson from Nucleoside/Nucleotide Reverse Transcriptase Inhibitors." In Advances in Experimental Medicine and Biology, 347–69. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-2869-1_16.
Deschauer, Marcus, and Stephan Zierz. "Mitochondriopathien." In Klinische Neurologie, 1–8. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-662-44768-0_37-1.
Smeitink, J., and U. Wendel. "Mitochondriopathien." In Pädiatrie, 388–98. Berlin, Heidelberg: Springer Berlin Heidelberg, 2007. http://dx.doi.org/10.1007/978-3-540-76460-1_43.
Smeitink, J., and U. Wendel. "Mitochondriopathien." In Pädiatrie, 381–91. Berlin, Heidelberg: Springer Berlin Heidelberg, 2003. http://dx.doi.org/10.1007/978-3-662-09176-0_43.
Freisinger, P. "Mitochondriopathien." In Angeborene Stoffwechselkrankheiten bei Erwachsenen, 395–405. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-45188-1_44.
Sperl, Wolfgang, and Peter Freisinger. "Mitochondriopathien." In Pädiatrie, 751–65. Berlin, Heidelberg: Springer Berlin Heidelberg, 2020. http://dx.doi.org/10.1007/978-3-662-60300-0_76.
Тези доповідей конференцій з теми "Mitochondriopathies":
Sperl, W. "Mitochondriopathien im Kindes- und Jugendalter." In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685014.
Meissner, P., E. Arslan, V. Van Laak, U. von Arnim, R. Fricke, and B. Schmidt. "Langzeitverlauf einer angeborenen Mitochondriopathie über 15 Jahre – Lungenfunktion, Atemmuskelkraft und Polysomnographie." In 60. Kongress der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin e. V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1678124.