Works matching DE "MITOCHONDRIAL myopathy"
Results: 110
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
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
- Published in:
- 2012
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- Publication type:
- Letter
MELAS syndrome diagnosed in ICU in a 56-year-old patient presenting with status epilepticus.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Prolonged or recurrent acute seizures after pediatric arterial ischemic stroke are associated with increasing epilepsy risk.
- Published in:
- 2017
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- Publication type:
- journal article
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
- Published in:
- Human Genetics, 2016, v. 135, n. 1, p. 21, doi. 10.1007/s00439-015-1608-8
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- Publication type:
- Article
Myoclonic epilepsy with ragged-red fibers: A case report.
- Published in:
- Experimental & Therapeutic Medicine, 2015, v. 9, n. 2, p. 432, doi. 10.3892/etm.2014.2140
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- Publication type:
- Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 469, doi. 10.1002/mgg3.418
- Publication type:
- Article
Evidence.based treatment of metabolic myopathy.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 393, doi. 10.3969/j.issn.1672.6731.2014.05.006
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- Publication type:
- Article
MtDNA deletions and aging.
- Published in:
- Frontiers in Aging Neuroscience, 2024, p. 1, doi. 10.3389/fragi.2024.1359638
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- Publication type:
- Article
Test-retest reliability of three life balance measures in people with neuromuscular disease: the activity card sort-NL, the activity calculator, and the occupational balance questionnaire.
- Published in:
- Disability & Rehabilitation, 2024, v. 46, n. 10, p. 2138, doi. 10.1080/09638288.2023.2213482
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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
The Phenotypic Range of Mitochondrial Myopathies and Disorders is More Diverse Than Expected.
- Published in:
- Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 452, doi. 10.4103/aian.aian_76_24
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- Publication type:
- Article
Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India.
- Published in:
- Annals of Indian Academy of Neurology, 2023, v. 26, n. 1, p. 73, doi. 10.4103/aian.aian_904_22
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- Publication type:
- Article
Recurrent Rhabdomyolysis, Acute Kidney Injury, and Foot Drop: A Rare Case with Mitochondrial Trifunctional Protein (MTP) Deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
Neurology Practice in India: At Crossroads.
- Published in:
- Annals of Indian Academy of Neurology, 2019, v. 22, n. 1, p. 1, doi. 10.4103/aian.AIAN_507_18
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- Publication type:
- Article
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.
- Published in:
- Tohoku Journal of Experimental Medicine, 2016, v. 238, n. 4, p. 311, doi. 10.1620/tjem.238.311
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- Publication type:
- Article
A synergistic dysfunction of mitochondrial fission/fusion dynamics and mitophagy in Alzheimer's disease.
- Published in:
- 2010
- By:
- Publication type:
- journal 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.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 11, p. 759, doi. 10.1038/jhg.2011.96
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- Publication type:
- Article
Perspectives on Exertional Rhabdomyolysis.
- Published in:
- Sports Medicine, 2017, v. 47, p. 33, doi. 10.1007/s40279-017-0689-z
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- Publication type:
- Article
Metabolic muscle disease.
- Published in:
- 1994
- By:
- Publication type:
- commentary
Imaging of Acute Ischemic Stroke.
- Published in:
- European Neurology, 2014, v. 72, n. 5/6, p. 309, doi. 10.1159/000362719
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- Publication type:
- Article
Promoting Neurological Recovery in the Post-Acute Stroke Phase: Benefits and Challenges.
- Published in:
- European Neurology, 2014, v. 72, n. 5/6, p. 317, doi. 10.1159/000365171
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- Publication type:
- Article
MITOCHONDRIAL MYOPATHIES: CURRENT DIAGNOSIS (II).
- Published in:
- Romanian Journal of Neurology, 2011, v. 10, n. 1, p. 12
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- Publication type:
- 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
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-91
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- Publication type:
- Article
Gene and Substrate Therapy for Neurogenetic Disease: A Combined Approach to Treat Mitochondrial Myopathy.
- Published in:
- Neurology Alert, 2021, v. 41, n. 4, p. 1
- Publication type:
- Article
Correlation of Electromyography With Pathology in Myopathy.
- Published in:
- Neurology Alert, 2019, v. 38, n. 5, p. 0
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- 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
Transient ischemic attack-like episodes without stroke-like lesions in MELAS.
- Published in:
- Pediatric Radiology, 2013, v. 43, n. 10, p. 1400, doi. 10.1007/s00247-013-2661-x
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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
EMBRACE: Bendavia Has No Effect on Reperfusion Injury in STEMI.
- Published in:
- MD Conference Express, 2015, v. 15, n. 5, p. 11, doi. 10.1177/1559897715583656
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- Publication type:
- Article
Differences in genetic defects and morphology of eye- and limb muscles in mitochondrial myopathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 4, p. e306, doi. 10.1111/aos.12558
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- Publication type:
- Article
Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154038
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- Publication type:
- Article
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
- Published in:
- 2018
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- Publication type:
- journal article
Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Regain of visuospatial capacity after coenzyme Q10 in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a case report.
- Published in:
- 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
Isolated mitochondrial stroke-like episodes in an elderly patient with the MT- ND3 gene mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2015, v. 3, n. 4, p. 153, doi. 10.1111/ncn3.173
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- Publication type:
- Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 295, doi. 10.1002/mgg3.280
- By:
- Publication type:
- Article
Intravoxel incoherent motion magnetic resonance imaging findings in the acute phase of MELAS: a case report.
- Published in:
- Brain & Behavior, 2014, v. 4, n. 6, p. 798, doi. 10.1002/brb3.282
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- Publication type:
- Article
General anesthesia without neuromuscular blockade for a child with mitochondrial myopathy.
- Published in:
- 2012
- By:
- Publication type:
- Letter
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
Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269
- By:
- Publication type:
- Article
A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 3, p. 378, doi. 10.1177/0883073814530499
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- Publication type:
- Article
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people.
- Published in:
- Postgraduate Medical Journal, 2012, v. 88, n. 1040, p. 326, doi. 10.1136/postgradmedj-2011-130326
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- Publication type:
- Article
Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article