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Articoli di riviste sul tema "Leigh disease"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 9 febbraio 2022

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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Sakushima, 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.

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12

Leigh, 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.

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13

Ulualp, 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.

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14

Coker, 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.

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15

Danis, 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.

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Abstract (sommario):

AbstractObjectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory complexes and/or pyruvate dehydrogenase complex is usually observed. Nuclear gene SURF1 encodes an assembly factor for cytochrome c-oxidase complex of the respiratory chain and autosomal recessive mutations in SURF1 are one of the most frequent causes of cytochrome c-oxidase-related Leigh sy

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16

Bitto, 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.

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Abstract Mitochondrial dysfunction is a hallmark of aging, but severe mitochondrial dysfunction leads to rare childhood disorders such as Leigh Syndrome. This session explores the similarities and differences between normative aging and mitochondrial disease and the potential for interventions to positively impact both conditions.

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17

Jabeen, 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.

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18

Waldron, 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.

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Edgar Collis was appointed as the second Medical Inspector of Factories in 1908, holding the post until the outbreak of the First World War when he became Medical Director of the Ministry of Munitions. After the war, he was appointed to the chair in public health in the University of Wales. He held this post while living in Lossiemouth in Scotland, some 570 miles distant. His research interests were in industrial lung disease, industrial hygiene, and the health of coal miners. He made important contributions to the first and third subjects, but was a less significant figure in the field of ind

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19

Ohama, 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.

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20

Szymanska-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.

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21

Hoefs, 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.

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22

Yamagata, 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.

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23

Sofou, 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.

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BackgroundLeigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored.ObjectiveWe aimed to identify phenotype-genotype correlations in Leigh syndrome in a large cohort of systematically evaluated patients.MethodsWe studied 96 patients with genetically confirmed Leigh syndrome diagnosed and followed in eight European centres specialising in mitochondrial diseases.ResultsWe found that ataxia, ophthalmoplegia and cardiomyop

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24

Kundu, 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.

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<p>Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted. Magnetic resonance imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the appropriate diagnosis. Here, we report a case of progressive neurologic disorders presenting with motor and intellectual regression which on MRI was diagnosed as Leigh syndrome.</p>

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25

Bugiardini, 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.

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TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders. We report a case of TPK1-related disease presenting with Leigh-like syndrome and review the diagnostic utility of thiamine pyrophosphate (TPP) blood measurement. The proband, a 35-year-old male, presented at four months of age with recurrent episodes of post-infectious encephalopathy. He subsequently developed epilepsy, learning difficulties, sensorineural hearing loss, spasticity, and dysphagia. T

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26

Campolina-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.

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ABSTRACT Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups: myopathy (n = 4); Leigh syndrome (n = 8); and encephalomyopathy (n = 8). Scores were obtained for the various dimensions of the NPMDS, and comparisons were drawn between the groups. Results There was a statistically significant difference between the myopathy group and the Leigh syndrome group (p = 0.0085), as well as between the myopat

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27

Itkis⁎, 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.

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28

Rahman, 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.

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29

Araki, 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.

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30

Surana, 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.

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31

Laird, 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.

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32

Greenberg, 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.

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33

de 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.

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34

Vogel, 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.

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35

Hombal, 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.

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36

Diab, 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.

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37

Terkawi, 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.

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38

Rahman, 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.

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39

Wasniewska, 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.

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40

Taylor, 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.

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41

Stendel, 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.

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ObjectiveTo delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort.MethodsWe analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China.ResultsWe identified 113 clinically affected and 19 asymptomatic individuals with a known pathogenic MT-ATP6 mutation. The most frequent mutations were m.8993 T > G (53/132, 40%), m.8993 T > C (30/132, 23%), m.9176 T > C (30/132, 23%), and m.9185 T > C (12/132, 9%).

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42

Speer, 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.

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AbstractMucolipidosis II α/beta (MLII) is an autosomal recessive disease in which a gene mutation leads to improper targeting of lysosomal enzymes with an end result of accumulation of lysosomes in the mitochondria resulting in a dysfunctional mitochondria.1 Leigh syndrome (LS) is a rare progressive neurodegenerative disorder associated with dysfunctional mitochondria and oxidative phosphorylation.4 Both disease processes typically present in infancy.3 7 Herein, we present a case of an infant diagnosed with both mucolipidosis II and Leigh syndrome. Genetic analysis in this case revealed two mu

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43

Bitto, 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.

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Abstract Mitochondrial diseases are pathologies characterized by impairment in mitochondrial function. Mitochondrial dysfunction is also a hallmark of the aging process. Rapamycin, a drug that increases lifespan and reduces the incidence of age-related pathologies in multiple models, increases survival and reduces the impact of neurological symptoms in a mouse model lacking the complex I subunit Ndufs4. Here we show that acarbose, another drug that extends lifespan in mice, suppresses symptoms of disease and improves survival of Ndufs4-/- mice. Unlike rapamycin, acarbose rescues disease phenot

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44

Ellis, 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.

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45

Baker, 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.

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46

Jiang, 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.

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47

Acer, 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.

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48

Koch, 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.

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49

Craigen, 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.

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50

Khailany, 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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Abstract (sommario):

Leigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about death within a few years of diagnosis, more often due to respiratory failure. In a small number of patients the disorder does not manifest until adulthood. The principal indications of Leigh syndrome found in early stages typically are diarrhea, vomiting, and difficulty swallowing (dysphagia), which disturbs eating. These problems usually result in powerlessness to develop

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