Bibliografie tematiche / Leigh disease

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Letteratura scientifica selezionata sul tema "Leigh disease"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 9 febbraio 2022

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Articoli di riviste sul tema "Leigh disease"

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Taccone, Agostino, Maia Di Rocco, Paola Fondelli, and Franco Cottafava. "Leigh Disease." Journal of Computer Assisted Tomography 13, no. 2 (March 1989): 207–10. http://dx.doi.org/10.1097/00004728-198903000-00003.

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Coker, Steven B., and Chinnamma Thomas. "Connatal Leigh Disease." Clinical Pediatrics 34, no. 7 (July 1995): 349–52. http://dx.doi.org/10.1177/000992289503400702.

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Pronicka, Ewa. "Hypocapnic hypothesis of Leigh disease." Medical Hypotheses 101 (April 2017): 23–27. http://dx.doi.org/10.1016/j.mehy.2017.01.016.

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Geyer, Carl A., K. J. Sartor, A. J. Prensky, C. L. Abramson, F. J. Hodges, and M. H. Gado. "Leigh Disease (Subacute Necrotizing Encephalomyelopathy)." Journal of Computer Assisted Tomography 12, no. 1 (January 1988): 40–44. http://dx.doi.org/10.1097/00004728-198801000-00006.

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Malojcic, Branko, Vesna Brinar, Charles Poser, and Visnja Djakovic. "An adult case of Leigh disease." Clinical Neurology and Neurosurgery 106, no. 3 (June 2004): 237–40. http://dx.doi.org/10.1016/j.clineuro.2004.02.028.

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Debray, François-Guillaume, Marie Lambert, Pierre Allard, and Grant A. Mitchell. "Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome." Journal of Child Neurology 25, no. 8 (May 14, 2010): 1000–1002. http://dx.doi.org/10.1177/0883073809351983.

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Wang, Mei, Ya-Ping Huang, Han Wu, Ke Song, Cong Wan, A.-Ni Chi, Ya-Mei Xiao, and Xiao-Yang Zhao. "Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice." PeerJ 5 (May 18, 2017): e3339. http://dx.doi.org/10.7717/peerj.3339.

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Abstract (sommario):
Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans. To investigate the disease phenotypes and molecular mechanisms of Leigh syndrome, the Ndufs4 knockout (KO) mouse has been widely used as a novel animal model. Because the homozygotes cannot survive beyond child-bearing age, whether Ndufs4 and mitochondrial complex I influence early embryonic development remains unknown. In our study, we attempted to investigate embryonic development in Ndufs
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Ng, Yi Shiau, Ming Lim, Gareth Thomas, and Robert McFarland. "Teaching NeuroImages: Neuroradiologic evolution of Leigh disease." Neurology 87, no. 14 (October 3, 2016): e159-e160. http://dx.doi.org/10.1212/wnl.0000000000003182.

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Sonam, Kothari, P. S. Bindu, Narayanappa Gayathri, Nahid Akhtar Khan, C. Govindaraju, Hanumanthapura R. Arvinda, Madhu Nagappa, Sanjib Sinha, K. Thangaraj, and Arun B. Taly. "The “Double Panda” Sign in Leigh Disease." Journal of Child Neurology 29, no. 7 (April 18, 2013): 980–82. http://dx.doi.org/10.1177/0883073813484968.

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Paltiel, H. J., A. M. O'Gorman, K. Meagher-Villemure, B. Rosenblatt, K. Silver, and G. V. Watters. "Subacute necrotizing encephalomyelopathy (Leigh disease): CT study." Radiology 162, no. 1 (January 1987): 115–18. http://dx.doi.org/10.1148/radiology.162.1.3786750.

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Più fonti

Tesi sul tema "Leigh disease"

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Worgan, Lisa Catherine Women &amp Children's Health UNSW. "The role of nuclear-encoded subunit genes in mitochondrial complex 1 deficiency." Awarded by:University of New South Wales. Women and Children's Health, 2005. http://handle.unsw.edu.au/1959.4/22307.

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Abstract (sommario):
BACKGROUND: Mitochondrial complex I deficiency often leads to a devastating neurodegenerative disorder of childhood. In most cases, the underlying genetic defect is unknown. Recessive nuclear gene mutations, rather than mitochondrial DNA mutations, account for the majority of cases. AIM: Our aim was to identify the genetic basis of complex I deficiency in 34 patients with isolated complex I deficiency, by studying six of the 39 nuclear encoded complex I subunit genes (NDUFV1, NDUFS1, NDUFS2, NDUFS4, NDUFS7 and NDUFS8). These genes have been conserved throughout evolution and carry out essentia
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Castro, Elenice de. "Informação em saúde para o público leigo: os âmbitos da produção e transferência de informação nas entidades de apoio a pacientes." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/27/27151/tde-06052009-125805/.

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Estudo sobre o fenômeno dos grupos de apoio aos pacientes sob a ótica da Ciência da informação, tendo em vista as questões relacionadas ao acesso à informação e ao conhecimento no campo da saúde pública. O contexto preparatório da transição paradigmática da modernidade para a pós-modernidade tem como fenômeno inovador a ação dos grupos de apoio aos pacientes na promoção da saúde e da melhoria global da qualidade de vida, por meio de ações de informação. As ações desses grupos são observadas por meio de pesquisa empírica qualitativa. São investigadas de forma específica as fontes às quais recor
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Prokopová, Zuzana. "Využití canisterapie ke stimulaci osob se vzácným onemocněním." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-356155.

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The aim of this thesis was to assess the influence of canistherapeutic intervention on the level of fine motor skills in patients with rare diseases, namely mitochondrial encephalocardiomyopathy caused by TMEM70 gene mutation and Leigh syndrome. Canistherapeutic intervention in these patients is based on activation of motoric functions during programme reasonably designed according to the needs of specific patients. The assistance of the dog is used to achieve this activation. The dog acts as an important motivational factor and the direct contact with it contributes to development of sensomot
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Xavier, Beatriz de Oliveira. "Entre o fazer e o dever." Doctoral thesis, 2015. http://hdl.handle.net/10362/17040.

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A compreensão da ocorrência das doenças em termos de risco e o estabelecimento de relações com os chamados estilos de vida, colocam na experiência de doença um acréscimo de conotações morais, um dever de autodisciplina e responsabilidade. Estes princípios têm sido inúmeras vezes sublinhados nos discursos e políticas da Saúde Pública, nomeadamente no que concerne às doenças cardiovasculares pela importância epidemiológica, económica e social de que se revestem e consequente necessidade de redução da sua grande incidência na população, como é o caso de Portugal. A hipertensão, como doenç
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Libri sul tema "Leigh disease"

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Rahman, Shamima, and Mirian C. H. Janssen. Coenzyme Q10 Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0011.

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Abstract (sommario):
Primary CoQ10 deficiencies are usually diagnosed in childhood, but late-onset forms are recognized. The expression of all clinical symptoms is extremely variable, but six major phenotypes are recognized: (1) encephalomyopathy, seizures, and ataxia; (2) infantile-onset multisystem disease; (3) cerebellar ataxia; (4) isolated myopathy; (5) Leigh syndrome; and (6) isolated nephrotic syndrome. Early treatment with exogenous CoQ10 supplementation may result in a good outcome.
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Firth, Helen V., and Jane A. Hurst. Common consultations. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0003.

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This chapter presents some of the disorders more commonly seen in a genetics clinic from achondroplasia to autosomal dominant polycystic kidney disease, Alport syndrome, androgen insensitivity syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome, congenital adrenal hyperplasia, glaucoma, haemochromatosis, hereditary spastic paraplegias, Leigh encephalopathy, Marfan’s syndrome, Noonan syndrome, and many others. It gives an explanation of the clinical approach, the history, the examination, the investigation, and the diagnosis and lists the support groups.
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Welte, Robert. Methodological Advances in the Economic Evaluation of Infectious Disease Prevention: The Case of Chlamydial Screening and Meningococcal C Vaccination (Europaische ... Reihe V, Volks- Und Betriebswirtschaft). Peter Lang Publishing, 2007.

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Methodological Advances in the Economic Evaluation of Infectious Disease Prevention: The Case of Chlamydial Screening and Meningococcal C Vaccination (Europaische ... Reihe V, Volks- Und Betriebswirtschaft). Peter Lang Publishing, 2007.

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Capitoli di libri sul tema "Leigh disease"

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "Leigh Disease." In Encyclopedia of Molecular Mechanisms of Disease, 1151–52. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6050.

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Pomales-Ramos, Anamiguel. "Leigh Disease." In Encyclopedia of Autism Spectrum Disorders, 1–2. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_102083-1.

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Pomales-Ramos, Anamiguel. "Leigh Disease." In Encyclopedia of Autism Spectrum Disorders, 2694–95. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_102083.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "Leigh Syndrome." In Encyclopedia of Molecular Mechanisms of Disease, 1152–53. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1029.

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Distelmaier, Felix, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava, Ertan Mayatepek, Jürgen Kohlhase, and Michael Karenfort. "Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome." In JIMD Reports, 53–57. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_271.

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Wetherall-Dickson, Leigh. "Syphilis and Sociability." In The Male Body in Medicine and Literature, 177–93. Liverpool University Press, 2018. http://dx.doi.org/10.3828/liverpool/9781786940520.003.0011.

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Abstract (sommario):
This essay considers the stain on one’s position within civil society represented by venereal disease. Drawing on the diaries of Boswell – for whom regular doses of syphilis seem to have been regarded as an amatory hazard – and Neville, the essay explores the increasing prominence and importance of the sphere of sociable intercourse in the eighteenth century, which necessitates, for Boswell at least, a clear division between his private selfhood and conduct and his public demeanour. In contrast, Neville’s episodes of the pox seem to have exacerbated his incipient paranoia and annoyance with a world around him that refuses to acknowledge his gentlemanly qualities. Both men’s reaction to their condition as related through their diaries reveals for Leigh Wetherall-Dickson a shifting notion of private identity formed in response to the relatively new phenomenon of sociable intercourse.
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Martino, Angelo, Edgar Badell, Nathalie Winter, Mélanie Charmoy, Geneviève Milon, and Fabienne Tacchini-Cottier. "Role of Neutrophils in the Early Shaping of the Leishmania major Specific Immune Response in Experimental Murine Cutaneous Leish." In Neutrophils in Infectious Diseases, 49–58. BENTHAM SCIENCE PUBLISHERS, 2012. http://dx.doi.org/10.2174/978160805023911101010049.

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