Works matching DE "LEIGH disease"

Results: 90

A Rare Case of Dystonia: Leigh-like Syndrome.

Published in:

2022

By:

Mehta, Sahil;
Prabhat, Nandita;
Radotra, B;
Singh, Rajveer;
Lal, Vivek;
Radotra, B D

Publication type:

Case Study

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

Published in:

2010

By:

Ostergaard, Elsebet;
Schwartz, Marianne;
Batbayli, Mustafa;
Christensen, Ernst;
Hjalmarson, Ola;
Kollberg, Gittan;
Holme, Elisabeth

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

Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.

Published in:

Journal of Central Nervous System Disease, 2017, n. 9, p. 1, doi. 10.1177/1179573517737521

By:

Alfadhel, Majid

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

Rehabilitation outcomes in Acute Necrotizing Encephalopathy of Childhood - A Retrospective Study.

Published in:

Indian Journal of Physiotherapy & Occupational Therapy, 2021, v. 15, n. 1, p. 125, doi. 10.37506/ijpot.v15i1.13359

By:

Diwanmal, Suchitra;
Biradi, Mahantesh;
Vanaki, Raghavendra;
Yelamali, Bhuvaneshwari

Publication type:

Article

Physiotherapy and Its Implications on Functional Disability in a Child with Leigh's Syndrome: An Interesting Case Report.

Published in:

Indian Journal of Physiotherapy & Occupational Therapy, 2019, v. 13, n. 4, p. 38, doi. 10.5958/0973-5674.2019.00128.X

By:

Oommen, Feba Sara;
Krishna, Kovela Rakesh

Publication type:

Article

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Published in:

2017

By:

Sallevelt, Suzanne C. E. H.;
Dreesen, Joseph C. F. M.;
Drüsedau, Marion;
Hellebrekers, Debby M. E. I.;
Paulussen, Aimee D. C.;
Coonen, Edith;
van Golde, Ronald J. T.;
Geraedts, Joep P. M.;
Gianaroli, Luca;
Magli, Maria C.;
Zeviani, Massimo;
Smeets, Hubert J. M.;
de Die-Smulders, Christine E. M.

Publication type:

journal article

Mitochondrial ataxia - Unravelling the puzzle.

Published in:

Annals of Movement Disorders, 2024, v. 7, n. 2, p. 78, doi. 10.4103/aomd.aomd_63_24

By:

Pandita, Neha;
Ganguly, Jacky;
Kumar, Hrishikesh

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

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 509, doi. 10.1038/jhg.2015.57

By:

Fukumura, Shinobu;
Ohba, Chihiro;
Watanabe, Toshihide;
Minagawa, Kimio;
Shimura, Masaru;
Murayama, Kei;
Ohtake, Akira;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Tsutsumi, Hiroyuki

Publication type:

Article

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41

By:

Negishi, Yutaka;
Hattori, Ayako;
Takeshita, Eri;
Sakai, Chika;
Ando, Naoki;
Ito, Tetsuya;
Goto, Yu-ichi;
Saitoh, Shinji

Publication type:

Article

From Diabetes to Neuropathy: A Diagnostic Journey to Leigh Syndrome.

Published in:

Iranian Journal of Child Neurology, 2025, v. 19, n. 1, p. 113, doi. 10.22037/ijcn.v19i1.46085

By:

Behzadi, Arya;
Poormehr, Pooya;
Saneifard, Hedyeh;
Shakiba, Marjan

Publication type:

Article

Acute Necrotizing Encephalopathy in Children: Insights and Outcomes from Iran.

Published in:

Iranian Journal of Child Neurology, 2024, v. 18, n. 4, p. 107, doi. 10.22037/ijcn.v18i4.45458

By:

Toosi, Farrokh Seilanian;
Hashemi, Narges;
Abadi, Reza Nejad Shahrokh;
Arbastan, Ahmad Mehdipour;
Akhoondian, Javad;
Ashrafzadeh, Farah;
Toosi, Mehran Beiraghi;
Imannezhad, Shima;
Maddahpour, Sara;
Naseri, Maryam;
Saeidinia, Amin;
Kamali, Samaneh;
Shekari, Shima

Publication type:

Article

Management of Leigh syndrome: Current status and new insights.

Published in:

Clinical Genetics, 2018, v. 93, n. 6, p. 1131, doi. 10.1111/cge.13139

By:

Chen, L.;
Cui, Y.;
Jiang, D.;
Ma, C. Y.;
Tse, H.‐F.;
Hwu, W.‐L.;
Lian, Q.

Publication type:

Article

Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome.

Published in:

Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 2, p. 201, doi. 10.1016/j.ejmhg.2012.10.005

By:

Tomoum, Hoda;
Elsayed, Solaf M.;
Berry-Kravis, Elizabeth

Publication type:

Article

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

Published in:

2021

By:

Ardissone, Anna;
Bruno, Claudio;
Diodato, Daria;
Donati, Alice;
Ghezzi, Daniele;
Lamantea, Eleonora;
Lamperti, Costanza;
Mancuso, Michelangelo;
Martinelli, Diego;
Primiano, Guido;
Procopio, Elena;
Rubegni, Anna;
Santorelli, Filippo;
Schiaffino, Maria Cristina;
Servidei, Serenella;
Tubili, Flavia;
Bertini, Enrico;
Moroni, Isabella

Publication type:

journal article

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

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.

Published in:

2022

By:

Stenton, Sarah L.;
Tesarova, Marketa;
Sheremet, Natalia L.;
Catarino, Claudia B.;
Carelli, Valerio;
Ciara, Elżbieta;
Curry, Kathryn;
Engvall, Martin;
Fleming, Leah R.;
Freisinger, Peter;
Iwanicka-Pronicka, Katarzyna;
Jurkiewicz, Elżbieta;
Klopstock, Thomas;
Koenig, Mary K.;
Kolářová, Hana;
Kousal, Bohdan;
Krylova, Tatiana;
Morgia, Chiara La;
Nosková, Lenka;
Piekutowska-Abramczuk, Dorota

Publication type:

journal article

Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.

Published in:

2022

By:

Wal, Melissa A E van de;
Adjobo-Hermans, Merel J W;
Keijer, Jaap;
Schirris, Tom J J;
Homberg, Judith R;
Wieckowski, Mariusz R;
Grefte, Sander;
Schothorst, Evert M van;
Karnebeek, Clara van;
Quintana, Albert;
Koopman, Werner J H;
van de Wal, Melissa A E;
van Schothorst, Evert M;
van Karnebeek, Clara

Publication type:

journal article

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

Published in:

2016

By:

Hallmann, Kerstin;
Kudin, Alexei P.;
Zsurka, Gábor;
Kornblum, Cornelia;
Reimann, Jens;
Stüve, Burkhard;
Waltz, Stephan;
Hattingen, Elke;
Thiele, Holger;
Nürnberg, Peter;
Rüb, Cornelia;
Voos, Wolfgang;
Kopatz, Jens;
Neumann, Harald;
Kunz, Wolfram S.

Publication type:

journal article

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Published in:

2016

By:

Ortigoza-Escobar, Juan Darío;
Molero-Luis, Marta;
Arias, Angela;
Oyarzabal, Alfonso;
Darín, Niklas;
Serrano, Mercedes;
Garcia-Cazorla, Angels;
Tondo, Mireia;
Hernández, María;
Garcia-Villoria, Judit;
Casado, Mercedes;
Gort, Laura;
Mayr, Johannes A.;
Rodríguez-Pombo, Pilar;
Ribes, Antonia;
Artuch, Rafael;
Pérez-Dueñas, Belén

Publication type:

journal article

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. e295, doi. 10.1093/brain/awu128

By:

Haack, Tobias B.;
Klee, Dirk;
Strom, Tim M.;
Mayatepek, Ertan;
Meitinger, Thomas;
Prokisch, Holger;
Distelmaier, Felix

Publication type:

Article

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. e296, doi. 10.1093/brain/awu129

By:

Gerards, Mike;
de Coo, René;
Smeets, Hubert

Publication type:

Article

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. e297, doi. 10.1093/brain/awu130

By:

van der Knaap, Marjo S.;
Kevelam, Sietske H.

Publication type:

Article

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.

Published in:

2020

By:

Alves, Cesar A. P. F.;
Teixeira, Sara R.;
Martin‐Saavedra, Juan S.;
Guimarães Gonçalves, Fabrício;
Lo Russo, Francesco;
Muraresku, Colleen;
McCormick, Elizabeth M.;
Falk, Marni J.;
Zolkipli‐Cunningham, Zarazuela;
Ganetzky, Rebecca;
Vossough, Arastoo;
Goldstein, Amy;
Zuccoli, Giulio;
Martin-Saavedra, Juan S;
Zolkipli-Cunningham, Zarazuela

Publication type:

journal article

Recessive mutations in VPS13D cause childhood onset movement disorders.

Published in:

2018

By:

Gauthier, Julie;
Meijer, Inge A.;
Lessel, Davor;
Mencacci, Niccolò E.;
Krainc, Dimitri;
Hempel, Maja;
Tsiakas, Konstantinos;
Prokisch, Holger;
Rossignol, Elsa;
Helm, Margaret H.;
Rodan, Lance H.;
Karamchandani, Jason;
Carecchio, Miryam;
Lubbe, Steven J.;
Telegrafi, Aida;
Henderson, Lindsay B.;
Lorenzo, Kerry;
Wallace, Stephanie E.;
Glass, Ian A.;
Hamdan, Fadi F.

Publication type:

journal article

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

Published in:

BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-116

By:

La Morgia, Chiara;
Caporali, Leonardo;
Gandini, Francesca;
Olivieri, Anna;
Toni, Francesco;
Nassetti, Stefania;
Brunetto, Daniela;
Stipa, Carlotta;
Scaduto, Cristina;
Parmeggiani, Antonia;
Tonon, Caterina;
Lodi, Raffaele;
Torroni, Antonio;
Carelli, Valerio

Publication type:

Article

Response to: Is pancreatitis actually a phenotypic manifestation of Leigh syndrome?

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15783

By:

Nakashima, Kengo;
Bo, Ryosuke;
Awano, Hiroyuki;
Nishiyama, Masahiro;
Iijima, Kazumoto

Publication type:

Article

Reply to the letter: "Is the variant m.9176T>C in MT‐ATP6 truly responsibly for Leigh syndrome?".

Published in:

2021

By:

Ichikawa, Kazushi

Publication type:

Letter to the Editor

Is the variant m.9176T > C in MT‐ATP6 truly responsibly for Leigh syndrome?

Published in:

2020

By:

Finsterer, Josef

Publication type:

Letter to the Editor

Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene.

Published in:

2019

By:

Ichikawa, Kazushi;
Tsuyusaki, Yu;
Shimbo, Hiroko;
Goto, Tomohide

Publication type:

Case Study

Leigh Disease.

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

Acute Necrotizing Encephalopathy of Childhood; A Case Report.

Published in:

Iranian Journal of Child Neurology, 2013, v. 7, n. 2, p. 51

By:

SALEHIOMRAN, Mohammad Reza;
NOOREDDINI, Hajighorban;
BAGHDADI, Fatemeh

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

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:

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

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

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 69, doi. 10.1186/1750-1172-7-69

By:

Ohlenbusch, Andreas;
Edvardson, Simon;
Skorpen, Johannes;
Bjornstad, Alf;
Saada, Ann;
Elpeleg, Orly;
Gärtner, Jutta;
Brockmann, Knut

Publication type:

Article

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

Published in:

1999

By:

Triepels, R. H.;
Van Den Heuvel, L. P.;
Loeffen, J. L. C. M.;
Buskens, C. A. F.;
Smeets, R. J. P.;
Rubio Gozalbo, M. E.;
Budde, S. M. S.;
Mariman, E. C.;
Wijburg, F. A.;
Barth, P. G.;
Trijbels, J. M. F.;
Smeitink, J. A. M.;
Loeffen, J L;
Buskens, C A;
Smeets, R J;
Budde, S M;
Trijbels, J M;
Smeitink, J A

Publication type:

journal article

The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.

Published in:

1998

By:

Santorelli, F. M.;
Tanji, K.;
Shanske, S.;
Krishna, S.;
Schmidt, R. E.;
Greenwood, R. S.;
DiMauro, S.;
de Vivo, D. C.

Publication type:

journal article

Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 2, p. 108, doi. 10.4103/jpn.JPN_137_18

By:

Baskaran, Dhinesh;
Hussain, Nahin

Publication type:

Article

Phenotype of NDUFV1-related disease.

Published in:

Journal of Pediatric Neurosciences, 2019, v. 14, n. 3, p. 175, doi. 10.4103/jpn.JPN_124_18

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

Thiamin-Responsive PDH Deficiency due to a PDHA1 Variant.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 2, p. 283, doi. 10.4103/jpn.JPN_175_17

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 2, p. 205, doi. 10.4103/jpn.JPN_138_17

By:

Incecik, Faruk;
Herguner, Ozlem M.;
Besen, Seyda;
Bozdoğan, Sevcan T.;
Mungan, Neslihan O.

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

Acute Necrotizing Encephalopathy of Childhood Secondary to Dengue Infection: A Case Report from Pakistan.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 2, p. 165, doi. 10.4103/jpn.JPN_186_16

By:

Abbas, Qalab;
Jafri, Sidra Kaleem;
Ishaque, Sidra;
Jamil, Muhammad T.

Publication type:

Article

The Natural History of Leigh Syndrome.

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

Leigh Syndrome: Insights and Implications from Advances in Next-generation Sequencing.

Published in:

Neurology Alert, 2016, v. 35, n. 9, p. 70

By:

Mallack, Eric;
Kosofsky, Barry E.

Publication type:

Article

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-90196-5

By:

Kishita, Yoshihito;
Ishikawa, Kaori;
Nakada, Kazuto;
Hayashi, Jun-Ichi;
Fushimi, Takuya;
Shimura, Masaru;
Kohda, Masakazu;
Ohtake, Akira;
Murayama, Kei;
Okazaki, Yasushi

Publication type:

Article