Works matching Mitochondrial diseases
Results: 5000
GFM1基因突变致儿童线粒体病一例并文献复习.
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- Journal of International Reproductive Health/Family Planning, 2022, v. 41, n. 3, p. 199, doi. 10.12280/gjszjk.20210554
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- Article
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
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- 2016
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- Publication type:
- journal article
Utilización de las técnicas de reproducción asistida en la prevención de enfermedades mitocondriales.
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- Universidad Médica Pinareña, 2021, v. 17, n. 2, p. 1
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- Article
A case-comparison study of pregnant women with mitochondrial disease - what to expect?
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- 2019
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- Publication type:
- journal article
Retinopati ile Birklikte Olan Mitokondriyal Hastalıklar.
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- Current Retina Journal / Güncel Retina Dergisi, 2021, v. 5, n. 3, p. 256
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- Publication type:
- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
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- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
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- Article
Mitochondrial disease in New Zealand: a nationwide prevalence study.
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- Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211
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- Article
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
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- Brain: A Journal of Neurology, 2025, v. 148, n. 3, p. 896, doi. 10.1093/brain/awae277
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- Article
Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease.
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- Brain: A Journal of Neurology, 2025, v. 148, n. 1, p. 39, doi. 10.1093/brain/awae308
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- Publication type:
- Article
线粒体DNA 8344A＞G突变导致线粒体遗传病的研究进展和防治策略.
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- Journal of International Reproductive Health/Family Planning, 2023, v. 42, n. 6, p. 471, doi. 10.12280/gjszjk.20230358
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- Publication type:
- Article
生殖遗传技术预防线粒体遗传病的研究进展.
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- Journal of International Reproductive Health/Family Planning, 2020, v. 39, n. 2, p. 153
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- Publication type:
- Article
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
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- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 655, doi. 10.3390/biom10040655
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- Publication type:
- Article
Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease.
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- Journal of Sleep Research, 2024, v. 33, n. 6, p. 1, doi. 10.1111/jsr.14153
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- Publication type:
- Article
Choroby mitochondrialne, postęp w badaniu i leczeniu.
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- Advances in Biochemistry / Postepy Biochemii, 2018, v. 64, n. 4, p. 300
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- Publication type:
- Article
The Relevance of Mitochondrial DNA Mutation in Human Diseases and Forensic Sciences: Review Article.
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- Al-Nahrain Journal of Science, 2025, v. 28, n. 1, p. 96, doi. 10.22401/ANJS.28.1.11
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- Publication type:
- Article
A population-based cohort study of mitochondrial disease and mental health conditions in Ontario, Canada.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03688-2
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- Article
Preliminary investigation on the economic cost of mitochondrial disease in Chinese children.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03708-1
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- Publication type:
- Article
Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.
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- JCEM Case Reports, 2025, v. 3, n. 4, p. 1, doi. 10.1210/jcemcr/luaf020
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- Article
Family misfortune caused by hereditary bias: a reflection on mitochondrial disease diagnosis in a family.
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- 2025
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- Publication type:
- Case Study
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00278-0
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- Publication type:
- Article
Pregnancy in women with mitochondrial disease—A literature review and suggested guidance for preconception and pregnancy care.
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- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2025, v. 65, n. 1, p. 30, doi. 10.1111/ajo.13874
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- Publication type:
- Article
Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation.
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- Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 598, doi. 10.3390/biom14050598
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- Publication type:
- Article
Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00019
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- Publication type:
- Article
Mitochondrial disease-an important cause of end-stage renal failure.
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- 2013
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- Publication type:
- Editorial
A boy with mitochondrial disease: asymptomatic proteinuria without neuromyopathy.
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- Pediatric Nephrology, 2004, v. 19, n. 1, p. 107, doi. 10.1007/s00467-003-1318-7
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- Publication type:
- Article
Cardiovascular Outcomes in Patients With Mitochondrial Disease in the United States: A Propensity Score Analysis.
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- Texas Heart Institute Journal, 2021, v. 48, n. 3, p. 1, doi. 10.14503/thij-20-7243
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- Publication type:
- Article
Prevalence and severity of voice and swallowing difficulties in mitochondrial disease.
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- International Journal of Language & Communication Disorders (John Wiley & Sons, Inc.), 2012, v. 47, n. 1, p. 106, doi. 10.1111/j.1460-6984.2011.00072.x
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- Publication type:
- Article
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
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- Genes, 2024, v. 15, n. 7, p. 894, doi. 10.3390/genes15070894
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- Publication type:
- Article
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
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- Genes, 2023, v. 14, n. 5, p. 1087, doi. 10.3390/genes14051087
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- Publication type:
- Article
Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing.
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- Genes, 2021, v. 12, n. 10, p. 1604, doi. 10.3390/genes12101604
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- Publication type:
- Article
Bir Kearns-Sayre Sendromu Olgusu (Çocukluk Çağında Gelişen Mitokondriyal Hastalıkların Tanısında Enzim Boyalarının Önemi).
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- 2009
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- Publication type:
- Case Study
A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03513-2
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- Publication type:
- Article
Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10731, doi. 10.3390/ijms251910731
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- Article
Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
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- International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 16746, doi. 10.3390/ijms242316746
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- Publication type:
- Article
Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8505, doi. 10.3390/ijms24108505
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- Publication type:
- Article
mtUPR Modulation as a Therapeutic Target for Primary and Secondary Mitochondrial Diseases.
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- 2023
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- Publication type:
- Literature Review
Adrenal Dysfunction in Mitochondrial Diseases.
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- 2023
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- Publication type:
- Literature Review
A Comprehensive Review on Beneficial Effects of Catechins on Secondary Mitochondrial Diseases.
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- 2022
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- Publication type:
- Literature Review
Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?
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- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7730, doi. 10.3390/ijms22147730
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- Publication type:
- Article
Mitochondrial Transplantation as a Novel Therapeutic Strategy for Mitochondrial Diseases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4793, doi. 10.3390/ijms22094793
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- Publication type:
- Article
A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4461, doi. 10.3390/ijms22094461
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- Publication type:
- Article
Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
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- Journal of Molecular Medicine, 2021, v. 99, n. 10, p. 1471, doi. 10.1007/s00109-021-02110-1
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- Publication type:
- Article
Expanding and validating the biomarkers for mitochondrial diseases.
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- Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1467, doi. 10.1007/s00109-020-01967-y
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- Publication type:
- Article
Unilateral Hearing Loss and Auditory Asymmetry in Mitochondrial Disease: A Scoping Review.
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- Journal of Clinical Medicine, 2024, v. 13, n. 17, p. 5044, doi. 10.3390/jcm13175044
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- Publication type:
- Article
POLG mutations in Australian patients with mitochondrial disease.
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- Internal Medicine Journal, 2013, v. 43, n. 2, p. 150, doi. 10.1111/j.1445-5994.2012.02847.x
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- Publication type:
- Article
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 333, doi. 10.1002/acn3.532
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- Publication type:
- Article
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.611226
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- Publication type:
- Article
Case Report: SATB2 -Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.692087
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- Publication type:
- Article
Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients' Brain in a Dish.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.610764
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- Publication type:
- Article
Proton MR Spectroscopy in The Diagnostic Evaluation of Suspected Mitochondrial Disease in Iran.
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- Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 12
- Publication type:
- Article