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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
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- 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
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- 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
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- Publication type:
- Article
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
- Published in:
- 2000
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- Publication type:
- journal article
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
- Published in:
- 2010
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- Publication type:
- journal 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice.
- Published in:
- 2022
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- Publication type:
- journal article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
- Published in:
- 2022
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- Publication type:
- journal article
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
- Published in:
- 2016
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- 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:
- Publication type:
- journal article
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
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
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- 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
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- Publication type:
- Article
A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia.
- Published in:
- 1998
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal 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
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- Publication type:
- journal article
The neuroimaging of Leigh syndrome: case series and review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The swallowing disorder in a patient with Leigh syndrome: A case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
- Published in:
- 2021
- By:
- 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
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- Publication type:
- Article
Correction to: Contribution of the MRPS22 variant and a Down mosaic to the phenotype.
- Published in:
- 2018
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- Publication type:
- Erratum
The cerebellum is a common site of affection in Leigh syndrome.
- Published in:
- 2018
- By:
- 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
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- 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
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- Publication type:
- Article
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
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- Publication type:
- Article
Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.
- Published in:
- Sleep & Breathing, 2013, v. 17, n. 4, p. 1129, doi. 10.1007/s11325-013-0816-5
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- 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
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- 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
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
Polioencephalomyelopathy in a mixed breed dog resembling Leigh's disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study