Encephalomyopathy
What's New
Last Posted: Mar 29, 2023
- NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Liao Yi-Chu, et al. Stroke 2023 0 - The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Baek Min Seong, et al. Yonsei medical journal 2018 0 (1) 98-105 - Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation.
Lee Ha Neul, et al. Frontiers in neurology 2018 0 621 - Expanding and validating the biomarkers for mitochondrial diseases.
Maresca Alessandra, et al. Journal of molecular medicine (Berlin, Germany) 2020 0 (10) 1467-1478 - Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.
Gramegna Laura L, et al. Annals of clinical and translational neurology 2021 0 (6) 1200-1211 - MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies.
Wei Yanping, et al. Frontiers in neurology 2021 0 648740 - Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis.
Zaidman Irina, et al. Pediatric blood & cancer 2021 0 (5) e28926 - Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene.
Mara? Genç Hülya, et al. Molecular syndromology 2022 0 (4) 305-317 - Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
Song D, et al. Chinese medical journal 2002 0 (12) 1273-5 - Mitochondrial disorders and drugs: what every physician should know.
Orsucci Daniele et al. Drugs in context 2019 8212588 - Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Nambot S et al. Clinical genetics 2017 Aug 92(2) 188-198 - Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Koenig Mary Kay et al. JAMA neurology 2016 Mar - Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up.
Åkebrand Rebecka, et al. Acta ophthalmologica 2016 2 - Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.
Zhou Mei-Cen, et al. BMC medical genetics 2015 0 (1) 92 - Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.
Komulainen Tuomas, et al. JIMD reports 2015 0 91-100 - Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
Nesti Claudia, et al. Human molecular genetics 2015 3 - The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?
Borgione Eugenia, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2013 7 (7) 1223-6 - High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.
Malfatti Edoardo, et al. Neurology 2013 1 (1) 100-5 - Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.
Tschampa Henriette J, et al. Journal of neurology 2013 4 (4) 1071-80 - Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
Kaufmann P, et al. Neurology 2011 11 (22) 1965-71
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 21, 2024
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