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Diagnosis of a Large Ependymal Cyst in a Patient with Severe Macrocephaly and No Neurological Risk Factors.
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
Efficacy of High-Dose Steroid Therapy on Bilateral Total Visual Loss in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
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
KL1333, a Novel NAD<sup>+</sup> Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00552
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- Publication type:
- Article
Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 11, p. 1016, doi. 10.1111/j.1440-1754.2012.02585.x
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- Publication type:
- Article
Iron deficiency in children with mitochondrial disease.
- Published in:
- Metabolic Brain Disease, 2010, v. 25, n. 2, p. 185, doi. 10.1007/s11011-010-9196-8
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- Publication type:
- Article
Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease.
- Published in:
- European Journal of Pediatrics, 2021, v. 180, n. 2, p. 425, doi. 10.1007/s00431-020-03804-3
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- 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
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- 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
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- Publication type:
- Article
Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 11, p. 1825, doi. 10.1111/j.1651-2227.2009.01428.x
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- Publication type:
- Article
Evaluation of renal function in children with mitochondrial respiratory chain complex defect: usefulness of cystatin C.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 6, p. 1014, doi. 10.1111/j.1651-2227.2009.01249.x
- By:
- Publication type:
- Article
Analysis of renal biopsies performed in children with abnormal findings in urinary mass screening.
- Published in:
- Acta Paediatrica, 2006, v. 95, n. 7, p. 849, doi. 10.1080/08035250600652005
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- Publication type:
- Article
Incidence of Guillain-Barré Syndrome Is Not Associated with Influenza Vaccination in the Elderly.
- Published in:
- Vaccines, 2020, v. 8, n. 3, p. 431, doi. 10.3390/vaccines8030431
- By:
- Publication type:
- Article
Causality Assessment Guidelines for Adverse Events Following Immunization with a Focus on Guillain–Barré Syndrome.
- Published in:
- Vaccines, 2020, v. 8, n. 1, p. 101, doi. 10.3390/vaccines8010101
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- Publication type:
- Article
Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2022, p. 1, doi. 10.1177/17562864221092551
- By:
- Publication type:
- Article
Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2022, v. 15, p. 1, doi. 10.1177/17562864221092551
- By:
- Publication type:
- Article
Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2020, v. 13, p. N.PAG, doi. 10.1177/1756286419897813
- By:
- Publication type:
- Article
Effective and safe diet therapies for Lennox- Gastaut syndrome with mitochondrial dysfunction.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2020, v. 13, p. 1, doi. 10.1177/1756286419897813
- By:
- Publication type:
- Article
Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 5, p. 2337, doi. 10.1007/s10072-024-07343-9
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- Publication type:
- Article
Molecular Diagnosis of Myoclonus epilepsy associated with Ragged-Red Fibers syndrome in the absence of Ragged Red Fibers.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00520
- By:
- Publication type:
- Article
Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00208
- By:
- Publication type:
- Article
Mitochondria DNA Polymorphisms Are Associated with Susceptibility to Endometriosis.
- Published in:
- DNA & Cell Biology, 2012, v. 31, n. 3, p. 316, doi. 10.1089/dna.2011.1279
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- Publication type:
- Article
A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment.
- Published in:
- 2023
- By:
- Publication type:
- Letter to the Editor
A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness.
- Published in:
- 2022
- By:
- Publication type:
- Letter
A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1.
- Published in:
- 2022
- By:
- Publication type:
- Letter
High-Dose Prednisolone Therapy for Lennox–Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome.
- Published in:
- Annals of Child Neurology, 2022, v. 30, n. 1, p. 17, doi. 10.26815/acn.2021.00542
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- Publication type:
- Article
Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
- Published in:
- Annals of Child Neurology, 2021, v. 29, n. 3, p. 140, doi. 10.26815/acn.2021.00381
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- Publication type:
- Article
Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant's Fentanyl Patch.
- Published in:
- 2021
- By:
- Publication type:
- Letter
FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia.
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
An Analysis of a Novel, Short-Term Therapeutic Psychoeducational Program for Children and Adolescents with Chronic Neurological Illness and Their Parents; Feasibility and Efficacy.
- Published in:
- Frontiers in Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00311
- By:
- Publication type:
- Article
Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 575, doi. 10.1002/jimd.12020
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- Publication type:
- Article
Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 277, doi. 10.1007/s10545-017-0110-y
- By:
- Publication type:
- Article
Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 4, p. 685, doi. 10.1111/j.1528-1167.2007.01522.x
- By:
- Publication type:
- Article
Efficacy and Tolerability of the Ketogenic Diet According to Lipid:Nonlipid Ratios—Comparison of 3:1 with 4:1 Diet.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 4, p. 801, doi. 10.1111/j.1528-1167.2007.01025.x
- By:
- Publication type:
- Article
Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 1, p. 82, doi. 10.1111/j.1528-1167.2006.00906.x
- By:
- Publication type:
- Article
Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea.
- Published in:
- Yonsei Medical Journal, 2023, v. 64, n. 12, p. 705, doi. 10.3349/ymj.2023.0080
- By:
- Publication type:
- Article
The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS.
- Published in:
- Yonsei Medical Journal, 2019, v. 60, n. 4, p. 401, doi. 10.3349/ymj.2019.60.4.401
- By:
- Publication type:
- Article
The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions.
- Published in:
- Yonsei Medical Journal, 2019, v. 60, n. 2, p. 232, doi. 10.3349/ymj.2019.60.2.232
- By:
- Publication type:
- Article
Lennox-Gastaut Syndrome in Mitochondrial Disease.
- Published in:
- Yonsei Medical Journal, 2019, v. 60, n. 1, p. 106, doi. 10.3349/ymj.2019.60.1.106
- By:
- Publication type:
- Article
The usefulness of Muscle Biopsy in Initial diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
- Published in:
- Yonsei Medical Journal, 2019, v. 60, n. 1, p. 98, doi. 10.3349/ymj.2019.60.1.98
- By:
- Publication type:
- Article
Ophthalmoplegia in Mitochondrial Disease.
- Published in:
- Yonsei Medical Journal, 2018, v. 59, n. 10, p. 1190, doi. 10.3349/ymj.2018.59.10.1190
- By:
- Publication type:
- Article
Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease.
- Published in:
- Yonsei Medical Journal, 2018, v. 59, n. 1, p. 128, doi. 10.3349/ymj.2018.59.1.128
- By:
- Publication type:
- Article
Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation.
- Published in:
- Yonsei Medical Journal, 2014, v. 55, n. 4, p. 1157, doi. 10.3349/ymj.2014.55.4.1157
- By:
- Publication type:
- Article