Works matching Mitochondrial encephalomyopathies
Results: 653
Mitochondrial encephalomyopathy: six cases report and review of literature.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 7, p. 621, doi. 10.3969/j.issn.1672-6731.2014.07.013
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- Article
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
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- 2015
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- journal article
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
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- 2016
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- journal article
An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Archives of Medicine & Health Sciences, 2024, v. 12, n. 2, p. 269, doi. 10.4103/amhs.amhs_295_23
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- Article
Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.
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- Journal of Central Nervous System Disease, 2024, p. 1, doi. 10.1177/11795735241241423
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- Article
Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations.
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- Annals of Indian Academy of Neurology, 2019, v. 22, n. 3, p. 325, doi. 10.4103/aian.AIAN_34_18
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- Article
Localization and amount of myoglobin and myoglobin mRNA in ragged-red fiber of patients with mitochondrial encephalomyopathy.
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- 1996
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- journal article
The Role of Brain MRI in Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Neuroradiology Journal, 2013, v. 26, n. 5, p. 520, doi. 10.1177/197140091302600505
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- Article
Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children.
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- Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 60, doi. 10.1186/1824-7288-39-60
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- Article
Rare health conditions 62: acute flaccid myelitis, infantile onset encephalomyopathy mitochondrial DNA depletion syndrome and chronic granulomatous disease.
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- British Journal of Healthcare Assistants, 2022, v. 16, n. 9, p. 422, doi. 10.12968/bjha.2022.16.9.422
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- Article
Mitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis.
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- Indian Journal of Nephrology, 2018, v. 28, n. 4, p. 310, doi. 10.4103/ijn.IJN_404_17
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- Article
Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 11, p. 818, doi. 10.3969/j.issn.1672-6731.2018.11.011
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- Article
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 325, doi. 10.1038/ejhg.2014.128
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- Article
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
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- 2021
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- journal article
The characteristics of cardiac involvement in 113 patients with mitochondrial encephalomyopathy with lactic academia and stroke-like episodes.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2022, v. 22, n. 5, p. 422, doi. 10.3969/j.issn.1672-6731.2022.05.014
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- Article
Bioinformatics analysis of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes geneome microarray based on GEO database.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 4, p. 347, doi. 10.3969/j.issn.1672-6731.2020.04.015
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- Article
Clinical features of the late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 3, p. 224, doi. 10.3969/j.issn.1672-6731.2020.03.015
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- Article
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 571, doi. 10.1038/ejhg.2012.153
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- Article
Young onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome: a case report.
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- Critical Care Innovations, 2024, v. 7, n. 4, p. 43, doi. 10.32114/CCI.2024.7.4.43.48
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- Article
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance.
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- 2017
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- Letter to the Editor
Mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes with severe systemic symptoms: Pathology and biochemistry.
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- 2018
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- Case Study
Neurosyphilis easily misdiagnosed as mitochondrial encephalomyopathy with lactic academia and strokelike episodes: one case report.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 5, p. 395, doi. 10.3969/j.issn.1672-6731.2021.05.011
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- Article
Diagnosing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Requires Not Only Phenotypic But Also Genotypic Verification.
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- Ochsner Journal, 2018, v. 18, n. 1, p. 4
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- Article
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy.
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- Acta Neuropathologica, 1998, v. 96, n. 1, p. 86, doi. 10.1007/s004010050863
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- Article
Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy.
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- 2018
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- Case Study
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.582
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- Article
Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Archives of Iranian Medicine (AIM), 2009, v. 12, n. 6, p. 588
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- Article
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03365-w
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- Article
Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report.
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- 2017
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- journal article
Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy.
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- Biomedica, 2020, v. 36, n. 4, p. 388, doi. 10.51441/biomedica/5-85
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- Article
Mic60 is essential to maintain mitochondrial integrity and to prevent encephalomyopathy.
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- Brain Pathology, 2023, v. 33, n. 4, p. 1, doi. 10.1111/bpa.13157
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- Article
Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy.
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- 2020
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- journal article
Apoptosis is suspended in muscle of mitochondrial encephalomyopathies.
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- Acta Neuropathologica, 2002, v. 103, n. 6, p. 531, doi. 10.1007/s00401-001-0502-8
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- Article
Peripheral Neuropathy in Mitochondrial Encephalomyopathies.
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- European Neurology, 1997, v. 37, n. 2, p. 110, doi. 10.1159/000117420
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- Article
Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss.
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- 2010
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- Case Study
Vascular involvement in the pathogenesis of mitochondrial encephalomyopathies.
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- Neurological Research, 2010, v. 32, n. 4, p. 403, doi. 10.1179/016164110X12670144526345
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- Article
Evaluation of a Mitochondrial Disease Criteria Scoring System on Mitochondrial Encephalomyopathy in Chinese Patients.
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- International Journal of Neuroscience, 2013, v. 123, n. 2, p. 93, doi. 10.3109/00207454.2012.732975
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- Article
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system.
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- Acta Neuropathologica, 1991, v. 83, n. 1, p. 99, doi. 10.1007/BF00294438
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- Article
Clinical analysis of elven families with mitochondrial encephalomyopathy in children.
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- China Tropical Medicine, 2023, v. 23, n. 3, p. 227, doi. 10.13604/j.cnki.46-1064/r.2023.03.03
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- Article
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Journal of Clinical Medicine, 2019, v. 8, n. 4, p. 457, doi. 10.3390/jcm8040457
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- Article
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.
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- Neurological Sciences, 2011, v. 32, n. 5, p. 861, doi. 10.1007/s10072-011-0719-9
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- Article
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.
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- Bone Marrow Transplantation, 2011, v. 46, n. 3, p. 330, doi. 10.1038/bmt.2010.100
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- Article
Cellular and metabolic changes in the liver tissue of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 207
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- Article
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.
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- Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00031
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- Article
Preclinical Toxicity Evaluation of Erythrocyte-Encapsulated Thymidine Phosphorylase in BALB/c Mice and Beagle Dogs: An Enzyme-Replacement Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Toxicological Sciences, 2013, v. 131, n. 1, p. 311, doi. 10.1093/toxsci/kfs278
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- Article
Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 788, doi. 10.3390/jcm9030788
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- Article
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
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- Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1096, doi. 10.3390/jcm8081096
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- Article
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report.
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- 2017
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- Publication type:
- Case Study
Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke‐Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities.
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- Journal of Magnetic Resonance Imaging, 2021, v. 53, n. 2, p. 427, doi. 10.1002/jmri.27353
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- Article
Subacute‐onset cataract in a 29‐year‐old man with mitochondrial encephalomyopathy: A case report.
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- 2024
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- Publication type:
- Case Study