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Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.561054
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- Publication type:
- Article
New-Generation Heterocyclic Bis-Pentamethinium Salts as Potential Cytostatic Drugs with Dual IL-6R and Mitochondria-Targeting Activity.
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- Pharmaceutics, 2022, v. 14, n. 8, p. 1712, doi. 10.3390/pharmaceutics14081712
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- Article
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
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- 2022
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- Publication type:
- journal article
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
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- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 336, doi. 10.1093/brain/awu355
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- Publication type:
- Article
Huntingtin Co-Isolates with Small Extracellular Vesicles from Blood Plasma of TgHD and KI-HD Pig Models of Huntington's Disease and Human Blood Plasma.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5598, doi. 10.3390/ijms23105598
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- Article
Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 12, p. 3930, doi. 10.3390/ijms19123930
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- Article
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
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- Journal of Obstetrics & Gynaecology Research, 2013, v. 39, n. 1, p. 410, doi. 10.1111/j.1447-0756.2012.01939.x
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- Publication type:
- Article
The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.
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- Biochemical Journal, 2016, v. 473, n. 6, p. 797, doi. 10.1042/BJ20151029
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- Publication type:
- Article
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
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- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 937, doi. 10.3390/jcm9040937
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- Article
Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.
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- APMIS, 2008, v. 116, n. 1, p. 41, doi. 10.1111/j.1600-0463.2008.00772.x
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- Publication type:
- Article
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
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- Journal of Human Genetics, 2012, v. 57, n. 7, p. 442, doi. 10.1038/jhg.2012.49
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- Publication type:
- Article
The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing's syndrome.
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- Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, v. 12, p. 1459, doi. 10.2147/DMSO.S209095
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- Publication type:
- Article
N-Glycosylation Regulates the Trafficking and Surface Mobility of GluN3A-Containing NMDA Receptors.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00188
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- Publication type:
- Article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
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- Publication type:
- Article
Změny mitochondriálních funkcí u pacientů v manické fázi bipolární afektivní poruchy.
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- Ceská a Slovenská Psychiatrie, 2018, v. 114, n. 6, p. 244
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- Article
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
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- 2017
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- Publication type:
- journal article
Warburg Effect's Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue.
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- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040949
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- Publication type:
- Article
Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs.
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- Neurodegenerative Diseases, 2017, v. 17, n. 4/5, p. 213, doi. 10.1159/000475467
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- Publication type:
- Article
Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.
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- Neurodegenerative Diseases, 2016, v. 16, n. 3/4, p. 245, doi. 10.1159/000443665
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- Publication type:
- Article
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 766, doi. 10.3390/brainsci10110766
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- Article
Mitochondrial Dysfunction in a High Intraocular Pressure-Induced Retinal Ischemia Minipig Model.
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- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101532
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- Publication type:
- Article
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 431, doi. 10.1038/ejhg.2013.148
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- Publication type:
- Article
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients.
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- Biologia, 2009, v. 64, n. 2, p. 394, doi. 10.2478/s11756-009-0054-2
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- Article
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02689-3
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- Publication type:
- Article
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F<sub>1</sub>F<sub>o</sub> ATP synthase deficiency.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-38
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- Article
Zaburzenia psychiczne u pięciu pacjentów cierpiących na zespół MELAS.
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- Psychiatria Polska, 2014, v. 48, n. 5, p. 1035
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- Publication type:
- Article
Activities of respiratory chain complexes in isolated platelets in females with anorexia nervosa.
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- International Journal of Eating Disorders, 2007, v. 40, n. 7, p. 659, doi. 10.1002/eat.20403
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- Article
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
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- 2014
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- Publication type:
- journal article
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1030, doi. 10.1093/brain/awu019
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- Publication type:
- Article
Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats.
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- Applied Physiology, Nutrition & Metabolism, 2015, v. 40, n. 3, p. 280, doi. 10.1139/apnm-2014-0163
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- Publication type:
- Article
Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3439, doi. 10.1007/s00415-024-12223-5
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- Article
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
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- Article
Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 694, doi. 10.1002/jimd.12237
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- Publication type:
- Article
TMEM70 deficiency: long-term outcome of 48 patients.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 417, doi. 10.1007/s10545-014-9774-8
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- Publication type:
- Article
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
- Published in:
- 2015
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- Publication type:
- Erratum
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 749, doi. 10.1007/s10545-011-9440-3
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- Publication type:
- Article
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 901, doi. 10.1007/s10545-011-9311-y
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- Publication type:
- Article
Coenzyme Q10: A Biomarker in the Differential Diagnosis of Parkinsonian Syndromes.
- Published in:
- Antioxidants, 2023, v. 12, n. 12, p. 2104, doi. 10.3390/antiox12122104
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- Article
Microarray and qPCR Analysis of Mitochondrial Metabolism Activation during Prenatal and Early Postnatal Development in Rats and Humans with Emphasis on CoQ 10 Biosynthesis.
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- Biology (2079-7737), 2021, v. 10, n. 5, p. 418, doi. 10.3390/biology10050418
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- Publication type:
- Article
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 17, p. 3029, doi. 10.1093/hmg/ddy213
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- Publication type:
- Article
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.
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- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 3, p. e225, doi. 10.1111/aos.12038
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- Publication type:
- Article
Sideroblastic anemia associated with multisystem mitochondrial disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
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- Journal of Dermatology, 2020, v. 47, n. 6, p. 663, doi. 10.1111/1346-8138.15317
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- Publication type:
- Article
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
- Published in:
- 2020
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- Publication type:
- journal article
Comparable respiratory activity in attached and suspended human fibroblasts.
- Published in:
- PLoS ONE, 2022, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0264496
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- Publication type:
- Article
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1182288
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- Article
A novel deficiency of mitochondrial ATPase of nuclear origin.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1967
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- Publication type:
- Article
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
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- Genes, 2022, v. 13, n. 7, p. 1245, doi. 10.3390/genes13071245
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- Publication type:
- Article
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.
- Published in:
- Prague Medical Report, 2017, v. 118, n. 2/3, p. 87, doi. 10.14712/23362936.2017.8
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- Publication type:
- Article
Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.
- Published in:
- Prague Medical Report, 2015, v. 116, n. 2, p. 73, doi. 10.14712/23362936.2015.48
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- Publication type:
- Article