Works matching DE "MITOCHONDRIAL myopathy"
Results: 110
Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report.
- Published in:
- Iranian Journal of Neonatology, 2014, v. 5, n. 3, p. 2
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- Publication type:
- Article
The Diagnostic Yield of Electromyography at Detecting Abnormalities on Muscle Biopsy: A Single Center Experience.
- Published in:
- Neurodiagnostic Journal, 2021, v. 61, n. 2, p. 86, doi. 10.1080/21646821.2021.1916730
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- Publication type:
- Article
Exertional rhabdomyolysis, profound lactic acidosis, and acute kidney injury in a young boy: Questions.
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- Pediatric Nephrology, 2016, v. 31, n. 10, p. 1605, doi. 10.1007/s00467-015-3152-0
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- Publication type:
- Article
Exertional rhabdomyolysis, profound lactic acidosis, and acute kidney injury in a young boy: Answers.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 10, p. 1607, doi. 10.1007/s00467-015-3150-2
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- Publication type:
- Article
General anesthesia without neuromuscular blockade for a child with mitochondrial myopathy.
- Published in:
- 2012
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- Publication type:
- Letter
Metabolic muscle disease.
- Published in:
- 1994
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- Publication type:
- commentary
Lactic acidosis and AIDS.
- Published in:
- 1993
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- Publication type:
- Case Study
Malignant stroke in a ticagrelor non-responder as a complication following aneurysm treatment with the Pipeline Embolization Device™.
- Published in:
- Interventional Neuroradiology, 2017, v. 23, n. 3, p. 297, doi. 10.1177/1591019917697473
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- Publication type:
- Article
New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome.
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- Clinical Rheumatology, 2014, v. 33, n. 9, p. 1341, doi. 10.1007/s10067-014-2620-4
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- Publication type:
- Article
My Diagnostic Odyssey—A Call to Expand Access to Genomic Testing for the Next Generation.
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- Hastings Center Report, 2018, v. 48, p. S32, doi. 10.1002/hast.882
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- Publication type:
- Article
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.
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- Clinical Case Reports, 2016, v. 4, n. 4, p. 425, doi. 10.1002/ccr3.511
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- Publication type:
- Article
Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.17834
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- Publication type:
- Article
IN REGARD TO "AUTISM IN THE SON OF A WOMAN WITH MITOCHONDRIAL MYOPATHY AND DYSAUTONOMIA: A CASE REPORT".
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report.
- Published in:
- Innovations in Clinical Neuroscience, 2015, v. 12, n. 9/10, p. 29
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- Publication type:
- Article
The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis.
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- Iranian Journal of Child Neurology, 2015, v. 9, n. 1, p. 37
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- Publication type:
- Article
Case Study of a Patient with Mitochondrial Cytopathy.
- Published in:
- International Student Journal of Nurse Anesthesia, 2020, v. 19, n. 1, p. 58
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- Publication type:
- Article
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
- Published in:
- 2013
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- Publication type:
- journal article
Biochemical and genetic studies in a family with mitochondrial myopathy.
- Published in:
- 1997
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- Publication type:
- journal article
Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia.
- Published in:
- 1996
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- Publication type:
- journal article
Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.
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- Journal of Neurology, 2016, v. 263, n. 2, p. 257, doi. 10.1007/s00415-015-7969-z
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- Publication type:
- Article
Skeletal muscle reoxygenation after high-intensity exercise in mitochondrial myopathy.
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- European Journal of Applied Physiology, 2012, v. 112, n. 5, p. 1763, doi. 10.1007/s00421-011-2136-4
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- Publication type:
- Article
Supplemental oxygen and muscle metabolism in mitochondrial myopathy patients.
- Published in:
- 2007
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- Publication type:
- journal article
Regain of visuospatial capacity after coenzyme Q10 in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a case report.
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- Acta Neuropsychiatrica, 2012, v. 24, n. 3, p. 186, doi. 10.1111/j.1601-5215.2011.00620.x
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- Publication type:
- Article
Myoclonic epilepsy with ragged-red fibers: A case report.
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- Experimental & Therapeutic Medicine, 2015, v. 9, n. 2, p. 432, doi. 10.3892/etm.2014.2140
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- Publication type:
- Article
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.
- Published in:
- 1997
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- Publication type:
- journal article
Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
MELAS syndrome diagnosed in ICU in a 56-year-old patient presenting with status epilepticus.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Benign reversible course in infants manifesting clinicopathological features of fatal mitochondrial myopathy due to m.14674 T>C mt-tRNAGlu mutation.
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- QJM: An International Journal of Medicine, 2013, v. 106, n. 10, p. 953, doi. 10.1093/qjmed/hct151
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- Publication type:
- Article
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.
- Published in:
- Turkish Journal of Hematology, 2017, v. 34, n. 4, p. 376, doi. 10.4274/tjh.2017.0231
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- Publication type:
- Article
Recurrent episodic acute kidney injury as presenting manifestation of mitochondrial myopathy.
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- Indian Journal of Nephrology, 2014, v. 24, n. 6, p. 387, doi. 10.4103/0971-4065.133027
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- Publication type:
- Article
Effectiveness and cost-effectiveness of a self-management group program to improve social participation in patients with neuromuscular disease and chronic fatigue: protocol of the Energetic study.
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- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0314-4
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- Publication type:
- Article
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
MELAS syndrome in an Indigenous Australian woman.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Mitochondria: Inadvertent targets in chemotherapy-induced skeletal muscle toxicity and wasting?
- Published in:
- 2016
- By:
- Publication type:
- journal article
A synergistic dysfunction of mitochondrial fission/fusion dynamics and mitophagy in Alzheimer's disease.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Mitochondrial myopathy presenting as fibromyalgia: a case report.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Poster 302: Visual Deficits and Cognitive Impairments as the Presenting Symptoms of an Adolescent With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS Syndrome): A Case Report.
- Published in:
- 2009
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- Publication type:
- Abstract
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269
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- Publication type:
- Article
MITOCHONDRIAL MYOPATHIES: CURRENT DIAGNOSIS (II).
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- Romanian Journal of Neurology, 2011, v. 10, n. 1, p. 12
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- Publication type:
- Article
Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy.
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- BMC Anesthesiology, 2017, v. 17, p. 1, doi. 10.1186/s12871-017-0385-4
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- Publication type:
- Article
Telbivudine associated mitochondrial myopathy.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Use of remimazolam as an adjunct to general anesthesia for an adolescent with MELAS syndrome.
- Published in:
- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2022, v. 10, n. 2, p. 49, doi. 10.14587/paccj.2022.8
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- Publication type:
- Article
Considerations about anesthesia in patients suffering from myopathy.
- Published in:
- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2013, v. 1, n. 2, p. 43, doi. 10.14587/paccj.2013.10
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- Publication type:
- Article
Chronic Binge Alcohol-Induced Dysregulation of Mitochondrial-Related Genes in Skeletal Muscle of Simian Immunodeficiency Virus-Infected Rhesus Macaques at End-Stage Disease.
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- Alcohol & Alcoholism, 2017, v. 52, n. 3, p. 298, doi. 10.1093/alcalc/agw107
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- Publication type:
- Article
Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
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- Journal of Human Genetics, 2011, v. 56, n. 11, p. 759, doi. 10.1038/jhg.2011.96
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- Publication type:
- Article
Different Effects of High-Fat/High-Sucrose and High-Fructose Diets on Advanced Glycation End-Product Accumulation and on Mitochondrial Involvement in Heart and Skeletal Muscle in Mice.
- Published in:
- Nutrients, 2023, v. 15, n. 23, p. 4874, doi. 10.3390/nu15234874
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- Publication type:
- Article
Cost-effectiveness of home mechanical ventilation in children living in a developing country.
- Published in:
- Anaesthesiology Intensive Therapy / Anestezjologia, Intensywna Terapia, 2019, v. 51, n. 1, p. 35, doi. 10.5603/AIT.a2019.0006
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- Publication type:
- Article
17-month-old child with Pearson syndrome and corneal haze - case report.
- Published in:
- 2020
- By:
- Publication type:
- Case Study