Works matching Leigh syndrome
Results: 714
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:
- 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:
- 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:
- Publication type:
- Article
Molecular basis of Leigh syndrome: a current look.
- Published in:
- 2020
- By:
- Publication type:
- journal article
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:
- Publication type:
- 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:
- Publication type:
- Article
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.
- Published in:
- Biomedicines, 2025, v. 13, n. 3, p. 733, doi. 10.3390/biomedicines13030733
- By:
- 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:
- 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:
- Publication type:
- Article
Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03582-x
- By:
- Publication type:
- Article
Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03582-x
- By:
- 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:
- 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:
- 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:
- Publication type:
- Article
Leigh sindromas: mitochondrinė liga dėl piruvato dehidrogenazės trūkumo, literateūrose apžvalga ire atvejo aprašymas.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
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:
- 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:
- 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:
- Publication type:
- Article
A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02181-y
- By:
- 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:
- Publication type:
- Article
Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Other
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:
- Publication type:
- Article
Leigh Syndrome: A Tale of Two Genomes.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.693734
- By:
- 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:
- 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:
- Publication type:
- Article
Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 333, doi. 10.1159/000536676
- By:
- 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:
- Publication type:
- Article
Proton MR Spectroscopy in Patients with Leigh Syndrome.
- Published in:
- Neuroradiology Journal, 2011, v. 24, n. 3, p. 424, doi. 10.1177/197140091102400312
- By:
- Publication type:
- Article
Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome.
- Published in:
- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2024, v. 58, n. 4, p. 468, doi. 10.5603/pjnns.100423
- By:
- 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:
- 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:
- 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:
- Publication type:
- Article
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:
- 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:
- Publication type:
- Article
Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome.
- Published in:
- Pediatric Radiology, 2024, v. 54, n. 10, p. 1758, doi. 10.1007/s00247-024-06005-4
- By:
- Publication type:
- Article
A case report of Leigh syndrome diagnosed by endomyocardial biopsy.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02871-7
- By:
- Publication type:
- Article
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02886-0
- By:
- Publication type:
- Article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Adult onset Leigh syndrome.
- Published in:
- Annals of Indian Academy of Neurology, 2007, v. 10, n. 1, p. 55, doi. 10.4103/0972-2327.31488
- By:
- 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:
- 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:
- Publication type:
- Article
The neuroimaging of Leigh syndrome: case series and review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- journal 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
FOXRED1 silencing in mice: a possible animal model for Leigh syndrome.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 1, p. 367, doi. 10.1007/s11011-018-0334-z
- By:
- Publication type:
- Article