Статті в журналах з теми "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.
Повний текст джерелаCoker, Steven B., and Chinnamma Thomas. "Connatal Leigh Disease." Clinical Pediatrics 34, no. 7 (July 1995): 349–52. http://dx.doi.org/10.1177/000992289503400702.
Повний текст джерелаPronicka, Ewa. "Hypocapnic hypothesis of Leigh disease." Medical Hypotheses 101 (April 2017): 23–27. http://dx.doi.org/10.1016/j.mehy.2017.01.016.
Повний текст джерелаGeyer, 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.
Повний текст джерелаMalojcic, 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.
Повний текст джерелаDebray, 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.
Повний текст джерелаWang, 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.
Повний текст джерелаNg, 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.
Повний текст джерелаSonam, 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.
Повний текст джерелаPaltiel, 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.
Повний текст джерелаSakushima, Ken, Sachiko Tsuji-Akimoto, Masaaki Niino, Shinji Saitoh, Ichiro Yabe, and Hidenao Sasaki. "Adult Leigh Disease Without Failure to Thrive." Neurologist 17, no. 4 (July 2011): 222–27. http://dx.doi.org/10.1097/nrl.0b013e318217357a.
Повний текст джерелаLeigh, P. N., S. Al-Sarraj, and S. DiMauro. "Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 4 (January 13, 2015): 363–65. http://dx.doi.org/10.1136/jnnp-2012-304601.
Повний текст джерелаUlualp, Seckin O., Charles G. Wright, Karen Pawlowski, and Peter S. Roland. "Cochlear Degeneration in Leigh Disease: Histopathologic Features." Laryngoscope 114, no. 12 (December 2004): 2239–42. http://dx.doi.org/10.1097/01.mlg.0000149465.80703.8e.
Повний текст джерелаCoker, Steven B. "Leigh disease presenting as Guillain-Barré syndrome." Pediatric Neurology 9, no. 1 (January 1993): 61–63. http://dx.doi.org/10.1016/0887-8994(93)90013-3.
Повний текст джерелаDanis, Daniel, Katarina Brennerova, Martina Skopkova, Timea Kurdiova, Jozef Ukropec, Juraj Stanik, Miriam Kolnikova, and Daniela Gasperikova. "Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients." Endocrine Regulations 52, no. 2 (April 1, 2018): 110–18. http://dx.doi.org/10.2478/enr-2018-0013.
Повний текст джерелаBitto, Alessandro. "IS AGING AN ACQUIRED MITOCHONDRIAL DISEASE?" Innovation in Aging 3, Supplement_1 (November 2019): S394—S395. http://dx.doi.org/10.1093/geroni/igz038.1458.
Повний текст джерелаJabeen, ShaikAfshan, G. Sandeep, KandadaiRukmini Mridula, AngamuttuKanikannan Meena, Rupam Borgohain, and Challa Sundaram. "Adult-onset Leigh′s disease: A rare entity." Annals of Indian Academy of Neurology 19, no. 1 (2016): 140. http://dx.doi.org/10.4103/0972-2327.175437.
Повний текст джерелаWaldron, Tony. "Edgar Leigh Collis: Industrial lung disease and ergonomics." Journal of Medical Biography 28, no. 3 (October 20, 2017): 157–62. http://dx.doi.org/10.1177/0967772017735716.
Повний текст джерелаOhama, Eisaku, Fusahiro Ikuta, and Nishio Nakamura. "Mitochondrial abnormalities in choroid plexus of leigh disease." Brain and Development 10, no. 1 (January 1988): 30–35. http://dx.doi.org/10.1016/s0387-7604(88)80042-1.
Повний текст джерелаSzymanska-Debinska, Tamara, Agnieszka Karkucinska-Wieckowska, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, and Maciej Pronicki. "Leigh disease due toSCO2mutations revealed at extended autopsy." Journal of Clinical Pathology 68, no. 5 (February 26, 2015): 397–99. http://dx.doi.org/10.1136/jclinpath-2014-202606.
Повний текст джерелаHoefs, Saskia J. G., Cindy E. J. Dieteren, Felix Distelmaier, Rolf J. R. J. Janssen, Andrea Epplen, Herman G. P. Swarts, Marleen Forkink, et al. "NDUFA2 Complex I Mutation Leads to Leigh Disease." American Journal of Human Genetics 82, no. 6 (June 2008): 1306–15. http://dx.doi.org/10.1016/j.ajhg.2008.05.007.
Повний текст джерелаYamagata, Takanori, Sadayuki Yano, Ichiro Okabe, Masutomo Miyao, Mariko Y. Momoi, Masayoshi Yanagisawa, Hiroko Hirata, and Kou Komatsu. "Ultrasonography and magnetic resonance imaging in Leigh disease." Pediatric Neurology 6, no. 5 (September 1990): 326–29. http://dx.doi.org/10.1016/0887-8994(90)90025-v.
Повний текст джерелаSofou, Kalliopi, Irenaeus F. M. de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, et al. "Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients." Journal of Medical Genetics 55, no. 1 (November 3, 2017): 21–27. http://dx.doi.org/10.1136/jmedgenet-2017-104891.
Повний текст джерелаKundu, Gopen Kumar, Amina Akhter, Shaheen Akhter, and Md Mizanur Rhaman. "Leigh syndrome: A rare mitochondrial disorder." Bangabandhu Sheikh Mujib Medical University Journal 9, no. 2 (August 18, 2016): 126. http://dx.doi.org/10.3329/bsmmuj.v9i2.28889.
Повний текст джерелаBugiardini, Enrico, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, et al. "Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases." Journal of Clinical Medicine 8, no. 7 (July 8, 2019): 991. http://dx.doi.org/10.3390/jcm8070991.
Повний текст джерелаCampolina-Sampaio, Gabriela Palhares, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, and Juliana Gurgel-Giannetti. "The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil." Arquivos de Neuro-Psiquiatria 74, no. 11 (November 2016): 909–13. http://dx.doi.org/10.1590/0004-282x20160137.
Повний текст джерелаItkis⁎, Yulia S., Galina E. Rudenskaya, Polina G. Tsygankova, Ekaterina Y. Zakharova, and Svetlana V. Mikhailova. "Mitochondrial DNA mutations in cases of Leigh-like disease." Mitochondrion 11, no. 4 (July 2011): 647. http://dx.doi.org/10.1016/j.mito.2011.03.040.
Повний текст джерелаRahman, J., A. Noronha, I. Thiele, and S. Rahman. "Leigh Map: a novel diagnostic resource for mitochondrial disease." Neuromuscular Disorders 27 (March 2017): S19. http://dx.doi.org/10.1016/s0960-8966(17)30274-2.
Повний текст джерелаAraki, Satoshi, Masaharu Hayashi, Atsushi Yasaka, and Kiyo Maruki. "Electrophysiological brainstem dysfunction in a child with Leigh disease." Pediatric Neurology 16, no. 4 (May 1997): 329–33. http://dx.doi.org/10.1016/s0887-8994(97)00020-9.
Повний текст джерелаSurana, P., S. Patni, and B. Hargitai. "G383 Perinatal leigh disease masquerading as hypoxic ischaemic encephalopathy." Archives of Disease in Childhood 101, Suppl 1 (April 2016): A222.2—A223. http://dx.doi.org/10.1136/archdischild-2016-310863.373.
Повний текст джерелаLaird, Philip W., Brian G. Mohney, and Deborah L. Renaud. "Bull’s-Eye Maculopathy in an Infant With Leigh Disease." American Journal of Ophthalmology 142, no. 1 (July 2006): 186–87. http://dx.doi.org/10.1016/j.ajo.2006.02.051.
Повний текст джерелаGreenberg, S. B., E. N. Faerber, J. J. Riviello, G. de Leon, and M. A. Capitanio. "Subacute necrotizing encephalomyelopathy (Leigh disease): CT and MRI appearances." Pediatric Radiology 21, no. 1 (December 1990): 5–8. http://dx.doi.org/10.1007/bf02010803.
Повний текст джерелаde Haas, Ria, Frans G. Russel, and Jan A. Smeitink. "Gait analysis in a mouse model resembling Leigh disease." Behavioural Brain Research 296 (January 2016): 191–98. http://dx.doi.org/10.1016/j.bbr.2015.09.006.
Повний текст джерелаVogel, Hannes. "Burden of Proof in the Postmortem Diagnosis of Mitochondrial Disease: Leigh Disease." Pediatric and Developmental Pathology 7, no. 6 (November 2004): 615–19. http://dx.doi.org/10.1007/s10024-004-5054-1.
Повний текст джерелаHombal, AG, and VN Narvekar. "Leigh′s disease (subacute necrotising encephalo-myelopathy)-a case report." Indian Journal of Radiology and Imaging 15, no. 2 (2005): 217. http://dx.doi.org/10.4103/0971-3026.28806.
Повний текст джерелаDiab, M. "Self-inflicted orodental injury in a child with Leigh disease." International Journal of Paediatric Dentistry 14, no. 1 (January 2004): 73–77. http://dx.doi.org/10.1111/j.1365-263x.2004.00472.x.
Повний текст джерелаTerkawi, AbdullahSulieman, KhalidM Al-Shuaibi, TariqM Wani, and JosephD Tobias. "Anesthetic considerations in Leigh disease: Case report and literature review." Saudi Journal of Anaesthesia 6, no. 2 (2012): 181. http://dx.doi.org/10.4103/1658-354x.97037.
Повний текст джерелаRahman, Joyeeta, Alberto Noronha, Ines Thiele, and Shamima Rahman. "Leigh map: A novel computational diagnostic resource for mitochondrial disease." Annals of Neurology 81, no. 1 (January 2017): 9–16. http://dx.doi.org/10.1002/ana.24835.
Повний текст джерелаWasniewska, Magdalena, Elzbieta Karczmarewicz, Maciej Pronicki, Dorota Piekutowska-Abramczuk, Krzysztof Zabłocki, Ewa Popowska, Ewa Pronicka, and Jerzy Duszyński. "Abnormal Calcium Homeostasis in Fibroblasts from Patients with Leigh Disease." Biochemical and Biophysical Research Communications 283, no. 3 (May 2001): 687–93. http://dx.doi.org/10.1006/bbrc.2001.4834.
Повний текст джерелаTaylor, Robert W., Andrew AM Morris, Michael Hutchinson, and Douglass M. Turnbull. "Leigh disease associated with a novel mitochondrial DNA ND5 mutation." European Journal of Human Genetics 10, no. 2 (February 2002): 141–44. http://dx.doi.org/10.1038/sj.ejhg.5200773.
Повний текст джерелаStendel, Claudia, Christiane Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D. Ganetzky, Joohyun Park, Peter Freisinger, et al. "Delineating MT-ATP6-associated disease." Neurology Genetics 6, no. 1 (January 13, 2020): e393. http://dx.doi.org/10.1212/nxg.0000000000000393.
Повний текст джерелаSpeer, Rebecca R., Uzoamaka C. Ezeanya, Sarah J. Beaudoin, Kristen M. Glass, and Christiana N. Oji-Mmuo. "Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome." Journal of Pediatric Genetics 09, no. 02 (October 24, 2019): 137–41. http://dx.doi.org/10.1055/s-0039-1700519.
Повний текст джерелаBitto, Alessandro, Anthony Grillo, and Matt Kaeberlein. "Acarbose suppresses symptoms of mitochondrial disease in a mouse model of Leigh Syndrome." Innovation in Aging 4, Supplement_1 (December 1, 2020): 886. http://dx.doi.org/10.1093/geroni/igaa057.3271.
Повний текст джерелаEllis, Zachary, and Charles Bloomer. "Outpatient Anesthesia for Oral Surgery in a Juvenile With Leigh Disease." Anesthesia Progress 52, no. 2 (June 2005): 70–73. http://dx.doi.org/10.2344/0003-3006(2005)52[70:oafosi]2.0.co;2.
Повний текст джерелаBaker, P. R., M. Friederich, C. Rice, L. J. Wong, and J. Van Hove⁎. "ND3 Mutation 10191T>C causes rapidly progressive infantile Leigh disease." Mitochondrion 11, no. 4 (July 2011): 669–70. http://dx.doi.org/10.1016/j.mito.2011.03.099.
Повний текст джерелаJiang, Yu-Wu, Jiong Qin, Yun Yuan, Yu Qi, and Xi-Ru Wu. "Neuropathologic and Clinical Features in Eight Chinese Patients With Leigh Disease." Journal of Child Neurology 17, no. 6 (June 2002): 450–52. http://dx.doi.org/10.1177/088307380201700611.
Повний текст джерелаAcer, H., M. Canpolat, G. K. Özçora, and S. Kumandaş. "A familial case of Leigh Disease related to NDUFV1 homozygous mutations." European Journal of Paediatric Neurology 21 (June 2017): e133-e134. http://dx.doi.org/10.1016/j.ejpn.2017.04.1031.
Повний текст джерелаKoch, Thomas K., Warren D. Lo, and Bruce O. Berg. "Variability of serial CT scans in subacute necrotizing encephalomyelopathy (leigh disease)." Pediatric Neurology 1, no. 1 (January 1985): 48–51. http://dx.doi.org/10.1016/0887-8994(85)90009-8.
Повний текст джерелаCraigen, William J. "Leigh disease with deficiency of lipoamide dehydrogenase: Treatment failure with dichloroacetate." Pediatric Neurology 14, no. 1 (January 1996): 69–71. http://dx.doi.org/10.1016/0887-8994(96)00005-7.
Повний текст джерелаKhailany, Rozhgar A., Naser Gilani, Mehmet Ozaslan, Muhamad Safdar, Ihsan Al-Shamari, Belan O. Kanabe, Khandakar A. S. M. Saadat, et al. "Association of a point mutation (m.9176T>G) of the MT-ATP6 gene with Leigh syndrome: A case report." Biomedical Research and Therapy 7, no. 5 (May 25, 2020): 3739–43. http://dx.doi.org/10.15419/bmrat.v7i5.601.
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