Works matching Leigh syndrome

Results: 720

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

Published in:

2019

By:

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

Publication type:

Correction Notice

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 Sendromlu Çocukta Hemşirelik Bakımı: Olgu Sunumu.

Published in:

Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2022, v. 11, n. 3, p. 1285, doi. 10.37989/gumussagbil.929175

By:

ÖCAL, Özlem;
MENEKŞE, Dilek;
ÇINAR, Nursan

Publication type:

Article

Molecular basis of Leigh syndrome: a current look.

Published in:

2020

By:

Schubert, Manuela Baldo;
Vilarinho, Laura;
Schubert Baldo, Manuela

Publication type:

journal article

Two tales of therapeutic innovations for Leigh syndrome spectrum.

Published in:

Journal of Neurogenetics, 2025, v. 39, n. 1, p. 4, doi. 10.1080/01677063.2025.2473087

By:

Lin, Wei-Sheng

Publication type:

Article

Leigh Sendromlu Hastada Anestezi Yönetimi.

Published in:

Bezmialem Science, 2017, v. 5, n. 2, p. 84, doi. 10.14235/bs.2016.855

By:

TÜTÜNCÜ, Ayşe Ciğdem;
KENDİGELEN, Pınar;
KAYA, Güner

Publication type:

Article

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

Published in:

Genes, 2024, v. 15, n. 4, p. 500, doi. 10.3390/genes15040500

By:

Misceo, Doriana;
Strømme, Petter;
Bitarafan, Fatemeh;
Chawla, Maninder Singh;
Sheng, Ying;
Bach de Courtade, Sandra Monica;
Eide, Lars;
Frengen, Eirik

Publication type:

Article

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735

By:

Ruiter, E. Mariken;
Siers, Marloes H.;
van den Elzen, Christa;
van Engelen, Baziel G.;
Smeitink, Jan A. M.;
Rodenburg, Richard J.;
Hol, Frans A.

Publication type:

Article

The magnetic resonance imaging of Leigh syndrome in a child.

Published in:

Clinica Terapeutica, 2021, v. 172, n. 6, p. 500, doi. 10.7417/CT.2021.2364

By:

N. Thanh Hai;
V. Kim Ngan;
N. Quynh Giang;
V. Huy Hoang;
Le Anh Viet;
N. Truong Duc;
T. T. Thu Hien;
D. V. He;
N. Minh Duc

Publication type:

Article

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Published in:

Brain Pathology, 2023, v. 33, n. 3, p. 1, doi. 10.1111/bpa.13134

By:

Muñoz‐Pujol, Gerard;
Ortigoza‐Escobar, Juan D.;
Paredes‐Fuentes, Abraham J.;
Jou, Cristina;
Ugarteburu, Olatz;
Gort, Laura;
Yubero, Delia;
García‐Cazorla, Angels;
O'Callaghan, Mar;
Campistol, Jaume;
Muchart, Jordi;
Yépez, Vicente A.;
Gusic, Mirjana;
Gagneur, Julien;
Prokisch, Holger;
Artuch, Rafael;
Ribes, Antonia;
Urreizti, Roser;
Tort, Frederic

Publication type:

Article

Adult Leigh syndrome with mitochondrial DNA mutation at 8993.

Published in:

Acta Neuropathologica, 1999, v. 97, n. 4, p. 416, doi. 10.1007/s004010051007

By:

Nagashima, T.;
Mori, Masamitsu;
Katayama, Katsuyuki;
Nunomura, Mitsuru;
Nishihara, Hiroshi;
Hiraga, Hiroaki;
Tanaka, Shinya;
Goto, Yu-ichi;
Nagashima, Kazuo

Publication type:

Article

Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome.

Published in:

Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00267

By:

Hong, Chan-Mi;
Na, Ji-Hoon;
Park, Soyoung;
Lee, Young-Mock

Publication type:

Article

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations.

Published in:

Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00496

By:

Lee, Sunho;
Na, Ji-Hoon;
Lee, Young-Mock

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

MITOCHONDRIAL DYSFUNCTION IN LEIGH SYNDROME: FROM GENETIC BASIS TO THERAPEUTIC APPROACHES.

Published in:

Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura Alimentaria Piscaria et Zootechnica, 2025, v. 374, n. 73, p. 22, doi. 10.21005/AAPZ2025.73.1.3

By:

JAWOROWSKA, Sandra

Publication type:

Article

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.

Published in:

Mitochondrial DNA. Part A, 2018, v. 29, n. 7, p. 1115, doi. 10.1080/24701394.2017.1413365

By:

Pelnena, Dita;
Burnyte, Birute;
Jankevics, Eriks;
Lace, Baiba;
Dagyte, Evelina;
Grigalioniene, Kristina;
Utkus, Algirdas;
Krumina, Zita;
Rozentale, Jolanta;
Adomaitiene, Irina;
Stavusis, Janis;
Pliss, Liana;
Inashkina, Inna

Publication type:

Article

Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome.

Published in:

2006

By:

Yue-Shan Piao;
Guo-Cai Tang;
Hong Yang;
De-Hong Lu

Publication type:

Other

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 2, p. 92, doi. 10.1007/s10038-003-0116-1

By:

Sudo, Akira;
Honzawa, Shiho;
Nonaka, Ikuya;
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

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

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

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 882, doi. 10.1093/brain/awt013

By:

Gerards, Mike;
Kamps, Rick;
van Oevelen, Jo;
Boesten, Iris;
Jongen, Eveline;
de Koning, Bart;
Scholte, Hans R.;
de Angst, Isabel;
Schoonderwoerd, Kees;
Sefiani, Abdelaziz;
Ratbi, Ilham;
Coppieters, Wouter;
Karim, Latifa;
de Coo, René;
van den Bosch, Bianca;
Smeets, Hubert

Publication type:

Article

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2952, doi. 10.1093/brain/awq232

By:

Tuppen, Helen A. L.;
Hogan, Vanessa E.;
Langping He;
Blakely, Emma L.;
Worgan, Lisa;
Al-Dosary, Mazhor;
Saretzki, Gabriele;
Alston, Charlotte L.;
Morris, Andrew A.;
Clarke, Michael;
Jones, Simon;
Devlin, Anita M.;
Mansour, Sahar;
Chrzanowska-Lightowlers, Zofia M. A.;
Thorburn, David R.;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Imaging Based Diagnosis of Leigh's Syndrome in a Rural Setup.

Published in:

Nepal Journal of Neuroscience, 2012, v. 9, n. 2, p. 79

By:

Kachewar, Sushil Ghanshyam;
Patil, Meera Sachin

Publication type:

Article

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01083-1

By:

Sun, Dan;
Liu, Zhimei;
Liu, Yongchu;
Wu, Miaojuan;
Fang, Fang;
Deng, Xianbo;
Liu, Zhisheng;
Song, Liang;
Murayama, Kei;
Zhang, Chunhua;
Zhu, Yuanyuan

Publication type:

Article

Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome.

Published in:

Clinical Hypertension, 2023, v. 29, n. 1, p. 1, doi. 10.1186/s40885-022-00231-4

By:

Solis, Ana;
Shimony, Joshua;
Shinawi, Marwan;
Barton, Kevin T.

Publication type:

Article

Mito-Nuclear Interactions Affecting Lifespan and Neurodegeneration in a Drosophila Model of Leigh Syndrome.

Published in:

Genetics, 2018, v. 208, n. 4, p. 1535, doi. 10.1534/genetics.118.300818

By:

Loewen, Carin A.;
Ganetzky, Barry

Publication type:

Article

LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.

Published in:

Revista Paulista de Pediatria, 2018, v. 36, n. 4, p. 519, doi. 10.1590/1984-0462/;2018;36;4;00003

By:

Lopes, Tânia;
Coelho, Margarida;
Bordalo, Diana;
Bandeira, António;
Bandeira, Anabela;
Vilarinho, Laura;
Fonseca, Paula;
Carvalho, Sónia;
Martins, Cecília;
Oliveira, José Gonçalves

Publication type:

Article

Leigh syndrome: MRI findings in two children.

Published in:

Biomedical Imaging & Intervention Journal, 2010, v. 6, n. 1, p. 1, doi. 10.2349/biij.6.1.e6

By:

Kartikasalwah, A. L.;
Ngu, L. H.

Publication type:

Article

Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome.

Published in:

Frontiers in Neuroscience, 2023, v. 16, p. 01, doi. 10.3389/fnins.2022.1068498

By:

Daneshgar, Nastaran;
Leidinger, Mariah R.;
Le, Stephanie;
Hefti, Marco;
Prigione, Alessandro;
Dao-Fu Dai

Publication type:

Article

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52

By:

Sofou, Kalliopi;
De Coo, Irenaeus F. M.;
Isohanni, Pirjo;
Ostergaard, Elsebet;
Naess, Karin;
Meirleir, Linda De;
Tzoulis, Charalampos;
Uusimaa, Johanna;
De Angst, Isabell B.;
Lönnqvist, Tuula;
Pihko, Helena;
Mankinen, Katariina;
Bindoff, Laurence A.;
Tulinius, Már;
Darin, Niklas

Publication type:

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

Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification.

Published in:

Mitochondrial DNA: Resources, 2019, v. 4, n. 1, p. 530, doi. 10.1080/23802359.2018.1553510

By:

Mayorga, Lía;
Cueto, Juan A.;
Correa, Adriana P.;
Guillamondegui, María J.;
Loos, Mariana A.;
Araoz, Verónica H.;
Laurito, Sergio R.;
Roqué, María

Publication type:

Article

A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1852

By:

Wen, Yan;
Lu, Guoyan;
Qiao, Lina;
Li, Yifei

Publication type:

Article

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1651

By:

Gong, Ke;
Xie, Li;
Wu, Zhong‐shi;
Xie, Xia;
Zhang, Xing‐xing;
Chen, Jin‐Lan

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

Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation.

Published in:

Pediatrics International, 2006, v. 48, n. 4, p. 409, doi. 10.1111/j.1442-200X.2006.02231.x

By:

Komura, Kiyomi;
Nakano, Kazutoshi;
Ishigaki, Keiko;
Tarashima, Mikako;
Nakayam, Tomohiro;
Sasaki, Kaori;
Saito, Kayoko;
Osawa, Makiko

Publication type:

Article

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.

Published in:

Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.605803

By:

Wang, Junling;
Liu, Zhimei;
Xu, Manting;
Han, Xiaodi;
Ren, Changhong;
Yang, Xinying;
Zhang, Chunhua;
Fang, Fang

Publication type:

Article

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.752467

By:

Na, Ji-Hoon;
Lee, Min Jung;
Lee, Chul Ho;
Lee, Young-Mock

Publication type:

Article

Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family.

Published in:

Molecular Medicine Reports, 2018, v. 17, n. 5, p. 6919, doi. 10.3892/mmr.2018.8670

By:

Weerasinghe, Chamara Arachchighe Lahiru;
Bui, Bich-Hong Thi;
Vu, Thu Thi;
NguyEN, Hong-Loan Thi;
Phung, Bao-Khanh;
NguyEN, Van-Minh;
Pham, Van-Anh;
Cao, Vu-Hung;
Phan, Tuan-Nghia

Publication type:

Article

Mild clinical manifestation and unusual recovery upon coenzyme Q<sub>10</sub> treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.

Published in:

Molecular Medicine Reports, 2015, v. 11, n. 3, p. 1956, doi. 10.3892/mmr.2014.2911

By:

ZHITING CHEN;
ZHENHUA ZHAO;
QINYONG YE;
YING CHEN;
XIAODONG PAN;
BIN SUN;
HUAPIN HUANG;
AN ZHENG

Publication type:

Article

Schizophrenia and Leigh syndrome, a simple comorbidity or the same etiopathogeny: about a case.

Published in:

Pan African Medical Journal, 2015, v. 22, p. 1, doi. 10.11604/pamj.2015.22.333.8288

By:

Mnif, Leila;
Sellami, Rim;
Masmoudi, Jawaher

Publication type:

Article

m.8993T>G相关Leigh综合征合并低瓜氨酸血症患儿4例并文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 9, p. 940, doi. 10.7499/j.issn.1008-8830.2404036

By:

李映雪;
王冬娟;
周茂彬;
孙浩轩;
洪思琦;
蒋莉;
郭艺

Publication type:

Article

NDUFS8 -Related Leigh Syndrome Mimicking a Leukodystrophy.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 6, p. 465, doi. 10.1177/08830738251328199

By:

Hogue, Bailyn;
Garcia, Mekka R.;
Steigerwald, Connolly G.;
Borja, Maria J.;
Abreu, Nicolas J.

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

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

Auditory Brainstem Response in a Child with Mitochondrial Disorder–Leigh Syndrome.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2024, v. 76, n. 1, p. 1014, doi. 10.1007/s12070-023-03971-3

By:

Pooja, P. S.;
Greeshma, R.;
Joy, Emin K.;
Swamy, Shreyank P.

Publication type:

Article

Leigh syndrome: Anesthetic management in complicated endoscopic procedures.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 1, p. 38, doi. 10.1111/j.1460-9592.2005.01678.x

By:

Gozal, David;
Goldin, Eran;
Shafran-Tikva, Sigal;
Tal, Dalia;
Wengrower, Dov

Publication type:

Article