Academic literature on the topic 'Mitochondrial cytopathy'

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Journal articles on the topic "Mitochondrial cytopathy"

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ITO, TAKAYUKI, KAZUKI HATTORI, MASASHI TANAKA, SATORU SUGIYAMA, and TAKAYUKI OZAWA. "Mitochondrial cytopathy." Japanese Circulation Journal 54, no. 9 (1990): 1214–20. http://dx.doi.org/10.1253/jcj.54.1214.

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Hilton-Jones, David. "Mitochondrial Cytopathy." Practical Neurology 2, no. 1 (2002): 55–57. http://dx.doi.org/10.1046/j.1474-7766.2002.00308.x.

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Dąbrowska, Anna, Barbara Sobolewska-Nowakowska, and Ewa Gulczyńska. "Mitochondrial cytopathy – case report." Postępy Neonatologii 2019, no. 2 (2019): 135–38. http://dx.doi.org/10.31350/postepyneonatologii/2019/2/pn2019016.

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Baruah, Jitendra K., and Deb Kinder. "Ethanol induced “mitochondrial cytopathy”." Experimental pathology 30, no. 3 (1986): 189–90. http://dx.doi.org/10.1016/s0232-1513(86)80094-9.

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Shimizu, J., A. Inatsu, S. Oshima, et al. "Hyperkalemia in familial mitochondrial cytopathy." Clinical Nephrology 70, no. 10 (2008): 348–53. http://dx.doi.org/10.5414/cnp70348.

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Debray, François-Guillaume, Eric Drouin, Denise Herzog, et al. "Recurrent pancreatitis in mitochondrial cytopathy." American Journal of Medical Genetics Part A 140A, no. 21 (2006): 2330–35. http://dx.doi.org/10.1002/ajmg.a.31457.

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Damian, Maxwell Simon, Wolfgang Sauter, and Heinz Reichmann. "Subcutaneous microdialysis in mitochondrial cytopathy." Muscle & Nerve 24, no. 5 (2001): 648–53. http://dx.doi.org/10.1002/mus.1050.

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Sarnat, Harvey B., and José Marín-García. "Pathology of Mitochondrial Encephalomyopathies." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 32, no. 2 (2005): 152–66. http://dx.doi.org/10.1017/s0317167100003929.

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ABSTRACT:Muscle biopsy provides the best tissue to confirm a mitochondrial cytopathy. Histochemical features often correlate with specific syndromes and facilitate the selection of biochemical and genetic studies. Ragged-red fibres nearly always indicate a combination defect of respiratory complexes I and IV. Increased punctate lipid within myofibers is a regular feature of Kearns-Sayre and PEO, but not of MELAS and MERRF. Total deficiency of succinate dehydrogenase indicates a severe defect in Complex II; total absence of cytochrome-c-oxidase activity in all myofibres correlates with a severe
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Cullington, Helen E. "Cochlear implantation of a deaf blind patient with mitochondrial cytopathy." Journal of Laryngology & Otology 113, no. 4 (1999): 353–54. http://dx.doi.org/10.1017/s0022215100143956.

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AbstractGenetic defects of the mitochondrial DNA often cause sensorineural hearing impairment, accompaniment by disorders of organs within the body. This case report describes cochlear implantation of a 33-year-old deaf blind female with mitochondrial cytopathy. The outcome was very successful, and vastly improved quality of life for this patient. Many cases of mitochondrial cytopathy cause progressive deafness; it is, therefore, likely that other patients with this unusual disorder will present for cochlear implant assessment.
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Pegg, Emily, Katherine Dodd, and Sandip Shaunak. "MITOCHONDRIAL CYTOPATHY PRESENTING WITH CEREBELLAR ATAXIA." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (2015): e4.166-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.73.

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A previously fit and well 59 year old man presented with a 3 year history of slowly progressive decline in mobility with increasing unsteadiness and falls. He also reported clumsiness of both hands and his wife noted poor memory. There was no family history of note, including deafness and diabetes. He drank alcohol occasionally. On examination he had signs consistent with a cerebellar and pyramidal syndrome with subcortical cognitive impairment.An MRI scan of the brain and spine showed significant generalised cerebral atrophy. CSF protein was 0.80g/L, with normal cell count and no oligoclonal
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Dissertations / Theses on the topic "Mitochondrial cytopathy"

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ODEYER, ALAIN. "Cytopathie mitochondriale : expression clinique polymorphe et originale ; a propos d'une observation." Lyon 1, 1990. http://www.theses.fr/1990LYO1M448.

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CORMIER, VALERIE. "Place des enzymopathies de la chaine respiratoire dans les comas acido-cetosiques a revelation neonatale." Reims, 1991. http://www.theses.fr/1991REIMM072.

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Curutchet, Marie-Laure. "Anémie réfractaire sidéroblastique révélant une cytopathie mitochondriale : à propos de 6 observations." Paris 5, 1995. http://www.theses.fr/1995PA05P168.

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Letellier, Thierry. "Contrôle du métabolisme cellulaire : application aux oxydations phosphorylantes normales et pathologiques." Bordeaux 2, 1992. http://www.theses.fr/1992BOR28209.

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Guery, Bruno. "Cytopathies mitochondriales (mutation melas) a expression tardive : atteintes renales et extra-renales chez sept patients adultes." Paris 5, 1999. http://www.theses.fr/1999PA05N087.

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Procaccio, Vincent. "Caractérisation des gènes des sous-unités 23, 30, 49, et 51 kDa du complexe mitochondrial humain : application à l'étude des pathologies associées aux déficits du complexe I." Université Joseph Fourier (Grenoble ; 1971-2015), 1998. http://www.theses.fr/1998GRE10053.

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La chaine respiratoire mitochondriale humaine est formee de 5 complexes enzymatiques dont le complexe i ou nadh ubiquinone oxydoreductase. Le complexe i est constitue de 43 sous unites dont 7 seulement sont codees par des genes mitochondriaux, le genome nucleaire codant les autres sous-unites. Des pathologies mitochondriales de transmission mendelienne ont ete mises en evidence, demontrant ainsi l'implication de genes nucleaires codant pour la chaine respiratoire mitochondriale. Dans la premiere partie de ce travail, nous nous sommes interesses a la caracterisation de 4 genes codant les sous-u
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Camus, Anne. "Cardiomyopathie hypertrophique revelant une cytopathie mitochondriale : a propos d'un cas." Lille 2, 1994. http://www.theses.fr/1994LIL2M351.

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Rossignol, Rodrigue. "Expression métabolique de défauts dans le fonctionnement des oxydations phosphorylantes mitochondriales : effet de seuil et théorie du contrôle du métabolisme appliqués à l'étude de la spécificité tissulaire des cytopathies." Bordeaux 2, 2000. http://www.theses.fr/2000BOR28781.

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Haut, Sandrine. "Place de la biologie moléculaire dans le diagnostic des cytopathies mitochondriales." Paris 5, 1998. http://www.theses.fr/1998PA05P151.

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LE, PANS NICOLE. "La maladie de pearson : un exemple de cytopathie mitochondriale ; a propos d'une observation personnelle et revue de la litterature." Rennes 1, 1992. http://www.theses.fr/1992REN1M057.

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Books on the topic "Mitochondrial cytopathy"

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McShane, Tony, Peter Clayton, Michael Donaghy, and Robert Surtees. Neurometabolic disorders. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0213.

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Various disorders result from genetically determined abnormalities of enzymes, the metabolic consequences of which affect the development or functioning of the nervous system. The range of metabolic disturbances is wide, as is the resultant range of clinical syndromes. Although most occur in children, some can present in adult life, and increasing numbers of affected children survive into adult life. In some, specific treatments are possible or are being developed. The last 20 years has seen a considerable expansion in our understanding of the genetic and metabolic basis for many neurological
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Book chapters on the topic "Mitochondrial cytopathy"

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Fink, M. P. "Cytopathic Hypoxia: Mitochondrial Dysfunction as a Potential Mechanism Contributing to Organ Failure in Sepsis." In Tissue Oxygenation in Acute Medicine. Springer Berlin Heidelberg, 2002. http://dx.doi.org/10.1007/978-3-642-58268-4_9.

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Lane, Russell J. M. "Screening for Mitochondrial Cytopathy: The Subanaerobic Threshold Exercise Test." In Mitochondrial Dysfunction. Elsevier, 1993. http://dx.doi.org/10.1016/b978-0-12-461205-1.50020-5.

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Camilleri, Michael. "Genetics and Molecular Aspects of Gastrointestinal Motility Disorders." In Mayo Clinic Illustrated Textbook of Neurogastroenterology. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780197512104.003.0001.

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Studying rare genetic and molecular diseases of gut motility provides an understanding of their underlying mechanisms and may provide insights on the mechanisms or management of more common illnesses. For example, constipation affects 1 in 5 people 65 years or older and 1 in 10 people younger than 65 years, and slow-transit constipation or colonic inertia is responsible for approximately 10% of referrals of patients with constipation to gastroenterologists and, among all patients with constipation, is the cause in probably 1%. Insights on the pathophysiology and mechanisms of constipation are
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Mills, K. R. "Miscellaneous neurological conditions." In Magnetic Stimulation of the Human Nervous System. Oxford University PressNew York, NY, 2000. http://dx.doi.org/10.1093/oso/9780192629869.003.0016.

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Abstract This chapter includes the results of central motor conduction studies in conditions which do not fit happily into the classifications of earlier chapters. The effects of a large number of drugs on motor evoked potentials (MEPs) have been documented and these are included here but a discussion of anaesthetic and paralysing agents is included in Chapter 18.In this rare syndrome, attacks of transient unilateral weakness occur beginning in the first year oflife. Attacks may occur on either side at different times, may last minutes to hours and may occur up to several times per week. A slo
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