Works matching DE "LEIGH disease"

Results: 90

The swallowing disorder in a patient with Leigh syndrome: A case report.

Published in:

2022

By:

Sarvghadi, Pooria;
Saber-Moghadam, Reihane

Publication type:

Case Study

Silencing of FOXRED1 in C57b1/6 mice does not generate an appropriate animal model of Leigh syndrome.

Published in:

Metabolic Brain Disease, 2019, v. 34, n. 1, p. 1, doi. 10.1007/s11011-018-0358-4

By:

Finsterer, Josef

Publication type:

Article

The cerebellum is a common site of affection in Leigh syndrome.

Published in:

2018

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Editorial

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 1, p. 191, doi. 10.1007/s11011-017-0122-1

By:

Piekutowska-Abramczuk, Dorota;
Rutyna, Rafał;
Czyżyk, Elżbieta;
Jurkiewicz, Elżbieta;
Iwanicka-Pronicka, Katarzyna;
Rokicki, Dariusz;
Stachowicz, Sylwia;
Strzemecka, Joanna;
Guz, Wiesław;
Gawroński, Michał;
Kosierb, Aneta;
Ligas, Joanna;
Puchala, Mateusz;
Drelich-Zbroja, Anna;
Bednarska-Makaruk, Małgorzata;
Dąbrowski, Wojciech;
Ciara, Elżbieta;
Książyk, Janusz B.;
Pronicka, Ewa

Publication type:

Article

Correction to: Contribution of the MRPS22 variant and a Down mosaic to the phenotype.

Published in:

2018

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Erratum

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

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

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 34, doi. 10.4274/jcrpe.galenos.2024.2024-1-11

By:

Papatya Çakır, Esra Deniz;
Ersoy, Melike;
Biçer, Nihan Çakır;
Gedikbaşı, Asuman

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

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

Acute Necrotizing Encephalopathy Associated with SARS-CoV-2 Infection in Children.

Published in:

2024

By:

Hui Zhu;
Shuyao Zhu;
Qiyan Wang;
Lijuan Wang;
Qiong Jiang;
Yuhang Hu;
Yu Huang;
Lan Zeng;
Zemin Luo

Publication type:

Case Study

3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation.

Published in:

Annals of Indian Academy of Neurology, 2021, v. 24, n. 3, p. 372, doi. 10.4103/aian.aian_192_20

By:

Çakar, Nafiye Emel;
Görükmez, Orhan

Publication type:

Article

Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure.

Published in:

2021

By:

Panda, Prateek Kumar;
Sharawat, Indar Kumar;
Sharma, Vishakha;
Sherwani, Poonam

Publication type:

Case Study

Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome.

Published in:

2016

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda;
Jabeen, S. A.;
Sandeep, G.;
Mridula, Rukmini;
Meena, A. K.;
Borgohain, Rupam

Publication type:

Case Study

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 novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.

Published in:

2000

By:

Carrozzo, R;
Murray, J;
Capuano, O;
Tessa, A;
Chichierchia, G;
Neglia, M R;
Capaldi, R A;
Santorelli, F M

Publication type:

journal 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

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

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

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

Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report.

Published in:

2018

By:

Ducharlet, Kathryn;
Thyagarajan, Dominic;
Ierino, Francesco;
McMahon, Lawrence P.;
Lee, Darren

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

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

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

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

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

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

196 Actas Esp Psiquiatr 2021;49(4):196-198 | ISSN: 1578-2735 Litio para el síndrome de Leigh: ¿daño, beneficio o ambos?

Published in:

2021

By:

Finsterer, Josef;
Maeztu, Concepción

Publication type:

Letter to the Editor

NOTA CLÍNICA: Litio: Un tratamiento antiguo para una nueva indicación.

Published in:

Actas Espanolas de Psiquiatria, 2021, v. 49, n. 3, p. 125

By:

Basterreche, Nieves;
Arrúe, Aurora;
Arnaiz, Ainara;
Olivas, Olga;
Zumárraga, Mercedes

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

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

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

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00903-7

By:

Piro, Ettore;
Serra, Gregorio;
Antona, Vincenzo;
Giuffrè, Mario;
Giorgio, Elisa;
Sirchia, Fabio;
Schierz, Ingrid Anne Mandy;
Brusco, Alfredo;
Corsello, Giovanni

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

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

An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.

Published in:

2021

By:

Horton, Luke;
Henry, Matthew;
Conway, Robert;
Kumar, Banu

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

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

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

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