Works matching DE "LEIGH disease"

Results: 90

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

A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia.

Published in:

1998

By:

LEUNG;
HUI;
YEUNG;
GOH;
Leung;
Leung, T F;
Hui, J;
Yeung, W L;
Goh, K

Publication type:

journal 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

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature.

Published in:

2014

By:

Levy, Rebecca J.;
Ríos, Purificación Gutierrez;
Akman, Hasan O.;
Sciacco, Monica;
Vivo, Darryl C. De;
DiMauro, Salvatore

Publication type:

Case Study

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

Epilepsy Surgery for Early Infantile Epileptic Encephalopathy (Ohtahara Syndrome).

Published in:

Journal of Child Neurology, 2013, v. 28, n. 12, p. 1607, doi. 10.1177/0883073812464395

By:

Malik, Saleem I.;
Galliani, Carlos A.;
Hernandez, Angel W.;
Donahue, David J.

Publication type:

Article

Early Spinal Cord and Brainstem Involvement in Infantile Leigh Syndrome Possibly Caused by a Novel Variant.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 12, p. 1681, doi. 10.1177/0883073812464273

By:

Tenney, Jeffrey R.;
Prada, Carlos E.;
Hopkin, Robert J.;
Hallinan, Barbara E.

Publication type:

Article

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1531, doi. 10.1177/0883073812460580

By:

Monlleo-Neila, Laura;
Toro, Mireia del;
Bornstein, Belen;
Garcia-Arumi, Elena;
Sarrias, Axel;
Roig-Quilis, Manuel;
Munell, Francina

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

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

Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.

Published in:

British Journal of Radiology, 2014, v. 87, n. 1034, p. 1, doi. 10.1259/bjr.20130478

By:

BINDU, P. S.;
TALY, A. B.;
SONAM, K.;
GOVINDARAJU, C.;
ARVINDA, H. R.;
GAYATHRI, N.;
SRINIVAS BHARATH, M. M.;
RANJITH, D.;
NAGAPPA, M.;
SINHA, S.;
KHAN, N. A.;
THANGARAJ, K.

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

Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64322-8

By:

Yamada, Yuma;
Somiya, Kana;
Miyauchi, Akihiko;
Osaka, Hitoshi;
Harashima, Hideyoshi

Publication type:

Article

Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report.

Published in:

Journal of the Korean Society of Radiology, 2020, v. 81, n. 6, p. 1478, doi. 10.3348/jksr.2019.0197

By:

Jisoo Oh;
Jinok Choi;
Soojung Kim;
Eun-ae Yoo

Publication type:

Article

Leigh syndrome.

Published in:

Nursing Children & Young People, 2017, v. 29, n. 7, p. 18, doi. 10.7748/ncyp.29.7.18.s20

By:

Crawford, Doreen

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

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

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

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

Do lesional perfusion abnormalities on arterial spin labeling truly contribute to the diagnosis of Leigh syndrome?

Published in:

2017

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Letter

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

The neuroimaging of Leigh syndrome: case series and review of the literature.

Published in:

2016

By:

Bonfante, Eliana;
Koenig, Mary;
Adejumo, Rahmat;
Perinjelil, Vinu;
Riascos, Roy;
Koenig, Mary Kay;
Adejumo, Rahmat B;
Riascos, Roy F

Publication type:

journal article

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y

By:

Tetreault, Martine;
Fahiminiya, Somayyeh;
Antonicka, Hana;
Mitchell, Grant;
Geraghty, Michael;
Lines, Matthew;
Boycott, Kym;
Shoubridge, Eric;
Mitchell, John;
Michaud, Jacques;
Majewski, Jacek

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

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.

Published in:

Nutrients, 2021, v. 13, n. 10, p. 3523, doi. 10.3390/nu13103523

By:

Staretz-Chacham, Orna;
Pode-Shakked, Ben;
Kristal, Eyal;
Abraham, Smadar Yaala;
Porper, Keren;
Wormser, Ohad;
Shelef, Ilan;
Anikster, Yair

Publication type:

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. e297, doi. 10.1093/brain/awu130

By:

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

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

Mitochondrial DNA mutations in late-onset Leigh syndrome.

Published in:

Journal of Neurology, 2018, v. 265, n. 10, p. 2388, doi. 10.1007/s00415-018-9014-5

By:

Wei, Yanping;
Cui, Liying;
Peng, Bin

Publication type:

Article

Reproductive medicine: The power of three.

Published in:

Nature, 2014, v. 509, n. 7501, p. 414, doi. 10.1038/509414a

By:

Callaway, Ewen

Publication type:

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

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

Anesthetic Management for patient with Leigh Syndrome.

Published in:

International Student Journal of Nurse Anesthesia, 2018, v. 17, n. 2, p. 34

By:

Mahaney, Meg

Publication type:

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

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

Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation.

Published in:

Neurology & Clinical Neuroscience, 2016, v. 4, n. 1, p. 34, doi. 10.1111/ncn3.12033

By:

Kim, Younhee;
Koide, Reiji;
Isozaki, Eiji;
Goto, Yu‐ichi

Publication type:

Article

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