Found: 85
Select item for more details and to access through your institution.
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:
- 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:
- 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:
- 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:
- Publication type:
- Article
The utility of phenomics in diagnosis of inherited metabolic disorders.
- Published in:
- Clinical Medicine, 2019, v. 19, n. 1, p. 30, doi. 10.7861/clinmedicine.19-1-30
- By:
- Publication type:
- Article
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A Rare Case of Dystonia: Leigh-like Syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
- Published in:
- 2017
- By:
- Publication type:
- journal 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:
- 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:
- 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:
- Publication type:
- Article
Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice.
- Published in:
- 2022
- By:
- Publication type:
- journal 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
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Recessive mutations in VPS13D cause childhood onset movement disorders.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal 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:
- Publication type:
- Article
Ophthalmologic involvement in Leigh syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 1, p. e75, doi. 10.1111/aos.13105
- By:
- Publication type:
- Article
Ophthalmologic involvement in Leigh syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 1, p. e76, doi. 10.1111/aos.13124
- By:
- Publication type:
- Article
A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia.
- Published in:
- 1998
- By:
- Publication type:
- journal 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:
- 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:
- 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:
- 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
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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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
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:
- 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:
- Publication type:
- Article
The Natural History of Leigh Syndrome.
- Published in:
- Neurology Alert, 2022, v. 41, n. 7, p. 1
- Publication type:
- Article
Do lesional perfusion abnormalities on arterial spin labeling truly contribute to the diagnosis of Leigh syndrome?
- Published in:
- 2017
- By:
- Publication type:
- letter
Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The neuroimaging of Leigh syndrome: case series and review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Reproductive medicine: The power of three.
- Published in:
- Nature, 2014, v. 509, n. 7501, p. 414, doi. 10.1038/509414a
- By:
- Publication type:
- 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:
- Publication type:
- Article
Polioencephalomyelopathy in a mixed breed dog resembling Leigh's disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Reply to the letter: "Is the variant m.9176T>C in MT‐ATP6 truly responsibly for Leigh syndrome?".
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
Is the variant m.9176T > C in MT‐ATP6 truly responsibly for Leigh syndrome?
- Published in:
- 2020
- By:
- 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:
- Publication type:
- Case Study
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:
- 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:
- 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:
- 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:
- 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:
- 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:
- Publication type:
- Article