PMC Articles for MedGen (Select 44095) - PMC

Links from MedGen

Items: 1 to 20 of 249

<< First< Prev

Page of 13

Select item 13776321.

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, M Granatiero, L Zelante, P Gasparini, R Marzella, M Rocchi, M P Bayona-Bafaluy, J A Enriquez, G Uziel, E Bertini, C Dionisi-Vici, B Franco, T Meitinger, M Zeviani

Am J Hum Genet. 1998 Dec; 63(6): 1609–1621. doi: 10.1086/302150

PMCID:: PMC1377632

Summary PDF–1.1M

Select item 24273192.

NDUFA2 Complex I Mutation Leads to Leigh Disease

Saskia J.G. Hoefs, Cindy E.J. Dieteren, Felix Distelmaier, Rolf J.R.J. Janssen, Andrea Epplen, Herman G.P. Swarts, Marleen Forkink, Richard J. Rodenburg, Leo G. Nijtmans, Peter H. Willems, Jan A.M. Smeitink, Lambert P. van den Heuvel

Am J Hum Genet. 2008 Jun 6; 82(6): 1306–1315. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.05.007

PMCID:: PMC2427319

Abstract Article PDF–629K

Select item 25270473.

Outpatient Anesthesia for Oral Surgery in a Juvenile With Leigh Disease

Zachary Ellis, Charles Bloomer

Anesth Prog. 2005 Summer; 52(2): 70–73. Published online 2005 Jun. doi: 10.2344/0003-3006(2005)52[70:OAFOSI]2.0.CO;2

PMCID:: PMC2527047

Abstract Article PDF–87K

Select item 25719784.

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

M Pronicki, E Matyja, D Piekutowska-Abramczuk, T Szymańska-Dębińska, A Karkucińska-Więckowska, E Karczmarewicz, W Grajkowska, T Kmieć, E Popowska, J Sykut-Cegielska

J Clin Pathol. 2008 Apr; 61(4): 460–466. Published online 2007 Oct 1. doi: 10.1136/jcp.2007.051060

PMCID:: PMC2571978

Abstract Article PDF–873K

Select item 16843105.

Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.

M Glerum, B H Robinson, C Spratt, J Wilson, D Patrick

Am J Hum Genet. 1987 Oct; 41(4): 584–593.

PMCID:: PMC1684310

Summary Page Browse PDF–983K

Select item 30619936.

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Saskia J G Hoefs, Francjan J van Spronsen, Ellen W H Lenssen, Leo G Nijtmans, Richard J Rodenburg, Jan A M Smeitink, Lambert P van den Heuvel

Eur J Hum Genet. 2011 Mar; 19(3): 270–274. Published online 2010 Dec 8. doi: 10.1038/ejhg.2010.204

PMCID:: PMC3061993

Abstract Article PDF–320K

Select item 16826437.

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y Tatuch, J Christodoulou, A Feigenbaum, J T Clarke, J Wherret, C Smith, N Rudd, R Petrova-Benedict, B H Robinson

Am J Hum Genet. 1992 Apr; 50(4): 852–858.

PMCID:: PMC1682643

Summary Page Browse PDF–1.1M

Select item 31489688.

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

Dario Ronchi, Alessandra Cosi, Davide Tonduti, Simona Orcesi, Andreina Bordoni, Francesco Fortunato, Mafalda Rizzuti, Monica Sciacco, Martina Collotta, Sophie Cagdas, Giuseppe Capovilla, Maurizio Moggio, Angela Berardinelli, Pierangelo Veggiotti, Giacomo P Comi

BMC Neurol. 2011; 11: 85. Published online 2011 Jul 12. doi: 10.1186/1471-2377-11-85

PMCID:: PMC3148968

Abstract Article PDF–1.9M

Select item 83327779.

Leigh disease (subacute necrotizing encephalomyelopathy): MR documentation of the evolution of an acute attack.

J M Heckmann, R Eastman, L Handler, M Wright, P Owen

AJNR Am J Neuroradiol. 1993 Sep-Oct; 14(5): 1157-9.

PMCID:: PMC8332777

Summary PDF–1.8M

Select item 338526610.

Anesthetic considerations in Leigh disease: Case report and literature review

Abdullah Sulieman Terkawi, Tariq M. Wani, Khalid M. Al-Shuaibi, Joseph D. Tobias

Saudi J Anaesth. 2012 Apr-Jun; 6(2): 181–185. doi: 10.4103/1658-354X.97037

PMCID:: PMC3385266

Abstract Article PDF–691K

Select item 390528511.

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

Orphanet J Rare Dis. 2013; 8: 192. Published online 2013 Dec 17. doi: 10.1186/1750-1172-8-192

PMCID:: PMC3905285

Abstract Article PDF–1.1M

Select item 415012912.

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

Sofia Ahola, Pirjo Isohanni, Liliya Euro, Virginia Brilhante, Aarno Palotie, Helena Pihko, Tuula Lönnqvist, Tanita Lehtonen, Jukka Laine, Henna Tyynismaa, Anu Suomalainen

Neurology. 2014 Aug 19; 83(8): 743–751. doi: 10.1212/WNL.0000000000000716

PMCID:: PMC4150129

Abstract Article PDF–790K

Select item 748412313.

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Marisa W. Friederich, Abdallah F. Elias, Alice Kuster, Lucia Laugwitz, Austin A. Larson, Aaron P. Landry, Logan Ellwood‐Digel, David M. Mirsky, David Dimmock, Jaclyn Haven, Hua Jiang, Kenneth N. MacLean, Katie Styren, Jonathan Schoof, Louise Goujon, Thomas Lefrancois, Maike Friederich, Curtis R. Coughlin, II, Ruma Banerjee, Tobias B. Haack, Johan L. K. Van Hove

J Inherit Metab Dis. 2020 Sep; 43(5): 1024–1036. Published online 2020 Apr 15. doi: 10.1002/jimd.12232

PMCID:: PMC7484123

Abstract Article PDF–4.9M

Select item 560191514.

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease

Ria de Haas, Devashish Das, Alejandro Garanto, Herma G. Renkema, Rick Greupink, Petra van den Broek, Jeanne Pertijs, Rob W. J. Collin, Peter Willems, Julien Beyrath, Arend Heerschap, Frans G. Russel, Jan A. Smeitink

Sci Rep. 2017; 7: 11733. Published online 2017 Sep 15. doi: 10.1038/s41598-017-09417-5

PMCID:: PMC5601915

Abstract Article PDF–6.9M

Select item 512131515.

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand

Mol Genet Metab Rep. 2014; 1: 66–70. Published online 2014 Feb 11. doi: 10.1016/j.ymgmr.2013.12.007

PMCID:: PMC5121315

Abstract Article PDF–503K

Select item 478253516.

Adult-onset Leigh's disease: A rare entity

Shaik Afshan Jabeen, G. Sandeep, Kandadai Rukmini Mridula, Angamuttu Kanikannan Meena, Rupam Borgohain, Challa Sundaram

Ann Indian Acad Neurol. 2016 Jan-Mar; 19(1): 140–142. doi: 10.4103/0972-2327.175437

PMCID:: PMC4782535

Abstract Article PDF–578K

Select item 569666617.

Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease

Prashant Jauhari, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi

J Pediatr Neurosci. 2017 Jul-Sep; 12(3): 265–267. doi: 10.4103/jpn.JPN_191_16

PMCID:: PMC5696666

Abstract Article

Select item 928777918.

Leigh's disease, a fatal finding in the common world: A case report

Nadezhda Niyarah Gloria Alemao, Suraj Gowda, Arpit Jain, Kamaldeep Singh, Saloni Piplani, Pratham D Shetty, Samarth Dhawan, Shreyas Arya, Yashasvi Chugh, Shobhit Piplani

Radiol Case Rep. 2022 Sep; 17(9): 3321–3325. Published online 2022 Jul 12. doi: 10.1016/j.radcr.2022.06.060

PMCID:: PMC9287779

Abstract Article PDF–1019K

Select item 289270919.

Leigh's Disease: The Acute Clinical Course of a Two-Year-Old Child with Subacute Necrotizing Encephalomyelopathy

Bettina Zinka, Andreas Buettner, Matthias Graw

Case Rep Med. 2010; 2010: 986302. Published online 2010 Jun 10. doi: 10.1155/2010/986302

PMCID:: PMC2892709

Abstract Article PDF–1.0M

Select item 305374220.

Leigh's disease involving multiple organs.

K. C. Jung, N. H. Myong, J. G. Chi, H. R. Choi, H. S. Lee, Y. M. Ahn

J Korean Med Sci. 1993 Jun; 8(3): 214–220. doi: 10.3346/jkms.1993.8.3.214

PMCID:: PMC3053742

Summary PDF–12M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 249

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity