Works matching Leigh disease

Results: 290

Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice.

Published in:

2022

By:

Corrà, Samantha;
Cerutti, Raffaele;
Balmaceda, Valeria;
Viscomi, Carlo;
Zeviani, Massimo

Publication type:

journal article

Leigh Disease.

Published in:: Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 18
Publication type:: Article

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

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 3, p. 265, doi. 10.4103/jpn.JPN_191_16

By:

Jauhari, Prashant;
Sankhyan, Naveen;
Vyas, Sameer;
Singhi, Pratibha

Publication type:

Article

The “Double Panda” Sign in Leigh Disease.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 7, p. 980, doi. 10.1177/0883073813484968

By:

Sonam, Kothari;
Bindu, P.S.;
Gayathri, Narayanappa;
Khan, Nahid Akhtar;
Govindaraju, C.;
Arvinda, Hanumanthapura R.;
Nagappa, Madhu;
Sinha, Sanjib;
Thangaraj, K.;
Taly, Arun B.

Publication type:

Article

Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity.

Published in:

2016

By:

Whitehead, Matthew;
Lee, Bonmyong;
Gropman, Andrea;
Whitehead, Matthew T

Publication type:

journal article

Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.

Published in:

Sleep & Breathing, 2013, v. 17, n. 4, p. 1129, doi. 10.1007/s11325-013-0816-5

By:

Mermigkis, Charalampos;
Bouloukaki, Izolde;
Mastorodemos, Vasileios;
Plaitakis, Andreas;
Alogdianakis, Vangelis;
Siafakas, Nikolaos;
Schiza, Sophia

Publication type:

Article

Resolving Auditory Neuropathy Spectrum Disorder in a Case with Leigh's Disease.

Published in:

Journal of the All India Institute of Speech & Hearing, 2016, v. 35, p. 14

By:

Yuvaraj, Pradeep;
Thomas, Anjana;
Sabu, Alphy;
Mannarukrishnaiah, Jayaram

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-192

By:

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

Publication type:

Article

Miniaturized <sup>1</sup>H-NMR method for analyzing limited-quantity samples applied to a mouse model of Leigh disease.

Published in:

Metabolomics, 2018, v. 14, n. 6, p. 1, doi. 10.1007/s11306-018-1372-6

By:

Mason, Shayne;
Terburgh, Karin;
Louw, Roan

Publication type:

Article

Polioencephalomyelopathy in a mixed breed dog resembling Leigh's disease.

Published in:

2015

By:

Chai, Orit;
Milgram, Joshua;
Shamir, Merav H.;
Brenner, Ori

Publication type:

Case Study

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Published in:

2013

By:

Ferdinandusse, Sacha;
Waterham, Hans R.;
Heales, Simon J. R.;
Brown, Garry K.;
Hargreaves, Iain P.;
Taanman, Jan-Willem;
Gunny, Roxana;
Abulhoul, Lara;
Wanders, Ronald J. A.;
Clayton, Peter T.;
Leonard, James V.;
Rahman, Shamima

Publication type:

journal article

Leigh's disease in 3 sibs of a Kuwaiti family.

Published in:

2002

By:

Abdul-Rasoul, Majedah;
Al-Qatan, Hanan;
Habeeb, Hessa;
Al-Adwani, Muneera;
Al-Bouloshi, Maliha;
Habeeb, Yousif;
Mousa, Ali

Publication type:

journal article

Anesthetic considerations in Leigh disease: Case report and literature review.

Published in:

2012

By:

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

Publication type:

Case Study

Magnetic resonance spectroscopy and diffusion-weighted imaging findings in a child with Leigh's disease.

Published in:

Pediatrics International, 2005, v. 47, n. 5, p. 601, doi. 10.1111/j.1442-200x.2005.02112.x

By:

Atalar, Mehmet H.;
Egilmez, Hulusi;
Bulut, Sema;
Icagasioglu, Dilara

Publication type:

Article

Leigh's Disease with Clinical Manifestations of Cornelia de Lange Syndrome.

Published in:

Pediatric Neurosurgery, 1991, v. 17, n. 4, p. 192, doi. 10.1159/000120594

By:

Heckmann, H.;
Ang, L.C.;
Casey, R.;
George, D.H.;
Lowry, N.;
Shokeir, M.H.K.

Publication type:

Article

Distinct Imaging Markers of Leigh's Disease Linked to SURF1 Mutation: A Pediatric Case Study.

Published in:

2024

By:

Narra, Rama Krishna;
Vemuri, Reshma

Publication type:

Case Study

Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy.

Published in:

Acta Neuropathologica, 1984, v. 64, n. 2, p. 167, doi. 10.1007/BF00695581

By:

Seitz, R.;
Langes, K.;
Frenzel, H.;
Kluitmann, G.;
Wechsler, W.

Publication type:

Article

Outpatient Anesthesia for Oral Surgery in a Juvenile With Leigh Disease.

Published in:

Anesthesia Progress, 2005, v. 52, n. 2, p. 70, doi. 10.2344/0003-3006(2005)52[70:OAFOSI]2.0.CO;2

By:

Ellis, Zachary;
Bloomer, Charles

Publication type:

Article

Neuronal degeneration in subacute necrotizing encephalomyelopathy (Leigh's disease).

Published in:

APMIS, 1995, v. 103, n. 1-6, p. 54, doi. 10.1111/j.1699-0463.1995.tb01079.x

By:

Lindboe, C. F.;
Lie, A. K.;
Aase, S. T.;
Schjetne, O. B.;
Haave, I.

Publication type:

Article

Adult-onset Leigh's disease: A rare entity.

Published in:

2016

By:

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

Publication type:

Case Study

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.

Published in:

2018

By:

Aretini, Paolo;
Mazzanti, Chiara Maria;
La Ferla, Marco;
Franceschi, Sara;
Lessi, Francesca;
De Gregorio, Veronica;
Nesti, Claudia;
Valetto, Angelo;
Bertini, Veronica;
Toschi, Benedetta;
Battini, Roberta;
Caligo, Maria Adelaide

Publication type:

journal article

Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 2, p. 141, doi. 10.1038/sj.ejhg.5200773

By:

Taylor, Robert W.;
Morris, Andrew A.M.;
Hutchinson, Michael;
Turnbull, Douglass M.

Publication type:

Article

Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency.

Published in:

1993

By:

Krägeloh-Mann, Ingeborg;
Grodd, Wolfgang;
Schöning, Martin;
Marquard, Klaus;
Nägele, Thomas;
Ruitenbeek, Wim;
Krägeloh-Mann, I;
Grodd, W;
Schöning, M;
Marquard, K;
Nägele, T;
Ruitenbeek, W

Publication type:

journal article

Chronic leigh disease: A genetic and biochemical study.

Published in:

Annals of Neurology, 1980, v. 7, n. 4, p. 304, doi. 10.1002/ana.410070404

By:

Plaitakis, Andreas;
Whetsell, William O.;
Cooper, Jack R.;
Yahr, Melvin D.

Publication type:

Article

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

Published in:

Annals of Neurology, 2022, v. 91, n. 1, p. 117, doi. 10.1002/ana.26260

By:

Lim, Albert Z.;
Ng, Yi Shiau;
Blain, Alasdair;
Jiminez‐Moreno, Cecilia;
Alston, Charlotte L.;
Nesbitt, Victoria;
Simmons, Louise;
Santra, Saikat;
Wassmer, Evangeline;
Blakely, Emma L.;
Turnbull, Doug M.;
Taylor, Robert W.;
Gorman, Gráinne S.;
McFarland, Robert

Publication type:

Article

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

Published in:

Annals of Neurology, 2000, v. 48, n. 1, p. 102, doi. 10.1002/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M

By:

Kirby, Denise M.;
Kahler, Stephen G.;
Freckmann, Mary-Louise;
Reddihough, Dinah;
Thorburn, David R.

Publication type:

Article

Deficiency of respiratory chain complex I is a common cause of leigh disease.

Published in:

Annals of Neurology, 1996, v. 40, n. 1, p. 25, doi. 10.1002/ana.410400107

By:

Morris, A. A. M.;
Leonard, J. V.;
Brown, G. K.;
Bidouki, S. K.;
Bindoff, L. A.;
Turnbull, D. M.;
Woodward, C. E.;
Harding, A. E.;
Lake, B. D.;
Harding, B. N.;
Farrell, M. A.;
Bell, J. E.;
Mirakhur, M.

Publication type:

Article

Cochlear Degeneration in Leigh Disease: Histopathologic Features.

Published in:

Laryngoscope, 2004, v. 114, n. 12, p. 2239

By:

Seckin O Ulualp;
Charles G Wright;
Karen Pawlowski;
Peter S Roland

Publication type:

Article

Light and Electron Microscopic Retinal Findings in Leigh's Disease.

Published in:

Ophthalmologica, 1989, v. 199, n. 2/3, p. 106, doi. 10.1159/000310025

By:

Kremer, I.;
Lerman-Sagie, T.;
Mukamel, M.;
Sandbank, J.;
Nissenkorn, I.;
Mimouni, M.

Publication type:

Article

Leigh's Disease Associated With a Dorsal Midbrain Syndrome.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2009, v. 46, n. 5, p. 304, doi. 10.3928/01913913-20090903-09

By:

West, Stephanie K.;
Connors, Lesley;
Cox, Timothy C. S.;
Coker, Timothy P.

Publication type:

Article

Self-inflicted orodental injury in a child with Leigh disease.

Published in:

2004

By:

Diab M

Publication type:

Journal Article

Self-inflicted orodental injury in a child with Leigh disease.

Published in:

International Journal of Paediatric Dentistry, 2004, v. 14, n. 1, p. 73, doi. 10.1111/j.1365-263X.2004.00472.x

By:

Diab, M.

Publication type:

Article

Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 8, p. 670, doi. 10.1177/08830738050200080701

By:

Tay, Stacey K. H.;
Sacconi, Sabrina;
Akman, H. Ohran;
Morales, Judith F.;
Morales, Augusto;
de Vivo, Darryl C.;
Shanske, Sara;
Bonilla, Eduardo;
diMauro, Salvatore

Publication type:

Article

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 3, p. 235, doi. 10.1177/088307380201700318

By:

Bruno, Claudio;
Biancheri, Roberta;
Garavaglia, Barbara;
Biedi, Claudia;
Rossi, Andrea;
Lamba, Laura Doria;
Bado, Massimo;
Greco, Marilena;
Zeviani, Massimo;
Minetti, Carlo

Publication type:

Article

Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal...

Published in:

Journal of Child Neurology, 2001, v. 16, n. 8, p. 616

By:

Cacic, Melita;
Wilichowski, Ekkehard;
Mejaski-Bosnjak, Vlatka;
Fumic, Ksenija;
Lugic, Lucija;
Marusic, Branka;
Marina, Dellia;
Hanefeld, Folker

Publication type:

Article

Leigh Disease: Clinmical, Neuroradiologic, and Biochemical Study of Three New Cases With...

Published in:

Journal of Child Neurology, 2001, v. 16, n. 8, p. 608, doi. 10.1177/088307380101600816

By:

Savasta, Salvatore;
Comi, Giacomo P.;
Perini, Maria P.;
Lupi, Assuero;
Strazzer, Sandra;
Rognoni, Felice;
Rossoni, Roberto

Publication type:

Article

An Adult Presentation of Leigh's Disease-like with Brainstem Involvement.

Published in:

2019

By:

Mittal, Gaurav;
Sureshbabu, Sachin;
Peter, Sudhir;
Sobhana, Chindripu;
Garg, Amit;
Babu, Raghunath;
Khanna, Laxmi;
Mittal, Gaurav K

Publication type:

journal article

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene.

Published in:

Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00347

By:

Li, Tao-Ran;
Wang, Qun;
Liu, Mao-Mao;
Lv, Rui-Juan

Publication type:

Article

Leigh sindromas: mitochondrinė liga dėl piruvato dehidrogenazės trūkumo, literateūrose apžvalga ire atvejo aprašymas.

Published in:

2010

By:

Samaitienė, R.;
Tumienė, B.;
Palionis, D.;
Grikinienė, J.;
Valevičienė, N.;
Songailienė, J.;
Petroška, D.;
Kučinskas, V.

Publication type:

Case Study

Connatal Leigh disease.

Published in:

Clinical Pediatrics, 1995, v. 34, n. 7, p. 349, doi. 10.1177/000992289503400702

By:

Coker, Steven B.;
Thomas, Chinnamma

Publication type:

Article

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

Published in:

2010

By:

Zinka, Bettina;
Buettner, Andreas;
Graw, Matthias

Publication type:

Case Study

Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-92

By:

Ortigoza-Escobar, Juan Darío;
Serrano, Mercedes;
Molero, Marta;
Oyarzabal, Alfonso;
Rebollo, Mónica;
Muchart, Jordi;
Artuch, Rafael;
Rodríguez-Pombo, Pilar;
Pérez-Dueñas, Belén

Publication type:

Article

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

Published in:

2013

By:

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

Publication type:

journal article

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Published in:

Annals of Neurology, 2003, v. 54, n. 4, p. 473

By:

Denise M. Kirby;
Avihu Boneh;
C. W. Chow;
Akira Ohtake;
Michael T. Ryan;
Dominic Thyagarajan

Publication type:

Article

The Natural History of Leigh Syndrome.

Published in:: Neurology Alert, 2022, v. 41, n. 7, p. 1
Publication type:: Article

Clinical, Pathological, and Neuroimaging Analyses of Two Cases of Leigh Syndrome in a Chinese Family.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 11, p. NP143, doi. 10.1177/0883073813512524

By:

Jin, Taoran;
Shen, Hongrui;
Zhao, Zhe;
Hu, Jing

Publication type:

Article

Reply regarding lesional perfusion abnormalities on arterial spin labeling in Leigh disease.

Published in:

2017

By:

Whitehead, Matthew;
Gropman, Andrea;
Lee, Bonmyong;
Whitehead, Matthew T

Publication type:

Letter

VP29.04: Prenatal diagnosis of Leigh disease caused due to novel mutation in ISCA2 gene in nuclear DNA.

Published in:: Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 218, doi. 10.1002/uog.24445
Publication type:: Article

Neuropathologic and Clinical Features in Eight Chinese Patients With Leigh Disease.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 6, p. 450, doi. 10.1177/088307380201700611

By:

Jiang, Yu-Wu;
Qin, Jiong;
Yuan, Yun;
Qi, Yu;
Wu, Xi-Ru

Publication type:

Article

High Prevalence of Infantile Encephalitic Beriberi with Overlapping Features of Leighs Disease.

Published in:

Journal of Tropical Pediatrics, 2008, v. 54, n. 5, p. 328, doi. 10.1093/tropej/fmn031

By:

S. Narasimha Rao;
Shalini Mani;
Karuna Madap;
M. V. Kranthi Kumar;
Lalji Singh;
Giriraj Ratan Chandak

Publication type:

Article