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THE SWITCH IN THE DIAGNOSIS OF MITOCHONDRIAL DISEASES FROM THE CLASSICAL 'FUNCTION FIRST' TO THE NGSBASED 'GENETICS FIRST' DIAGNOSTIC ERA.
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 2, p. 47, doi. 10.34763/jmotherandchild.20202402si.2005.000008
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- Publication type:
- Article
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.
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- 2007
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- Publication type:
- journal article
Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes.
- Published in:
- 2002
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- Publication type:
- journal article
Age-Related Deterioration of Mitochondrial Function in the Intestine.
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- Oxidative Medicine & Cellular Longevity, 2020, p. 1, doi. 10.1155/2020/4898217
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- Publication type:
- Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0254-5
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- Publication type:
- Article
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0236-7
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- Publication type:
- Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
- Published in:
- 2015
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- Publication type:
- journal article
CAD mutations and uridine-responsive epileptic encephalopathy.
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- 2017
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- Publication type:
- journal article
Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.
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- Electrophoresis, 2006, v. 27, n. 19, p. 3864, doi. 10.1002/elps.200600086
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- Publication type:
- Article
Alterations of oxidative phosphorylation complexes in astrocytomas.
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- Glia, 2014, v. 62, n. 4, p. 514, doi. 10.1002/glia.22621
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- Publication type:
- Article
Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.
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- Oxidative Medicine & Cellular Longevity, 2022, p. 1, doi. 10.1155/2022/9151169
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- Publication type:
- Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
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- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
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- Publication type:
- Article
Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.
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- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/1320241
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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
Gangliocytes in neuroblastic tumors express alarin, a novel peptide derived by differential splicing of the galanin-like peptide gene.
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- Journal of Molecular Neuroscience, 2006, v. 29, n. 2, p. 145, doi. 10.1385/JMN:29:2:145
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- Publication type:
- Article
Melanoma tumors exhibit a variable but distinct metabolic signature.
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- Experimental Dermatology, 2018, v. 27, n. 2, p. 204, doi. 10.1111/exd.13465
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- Publication type:
- Article
Mitochondrial dysfunction: a neglected component of skin diseases.
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- Experimental Dermatology, 2014, v. 23, n. 9, p. 607, doi. 10.1111/exd.12484
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- Publication type:
- Article
Mitochondrial Haplogroup T Is Associated with Obesity in Austrian Juveniles and Adults.
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- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0135622
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- Publication type:
- Article
Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129802
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- Publication type:
- Article
Functional Differences between Mitochondrial Haplogroup T and Haplogroup H in HEK293 Cybrid Cells.
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- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052367
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- Publication type:
- Article
Mitochondrial Haplogroups and Control Region Polymorphisms in Age-Related Macular Degeneration: A Case-Control Study.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030874
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- Publication type:
- Article
Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians.
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- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0027192
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- Publication type:
- Article
The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations.
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- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016455
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- Publication type:
- Article
Mitochondrial Haplogroups and Control Region Polymorphisms Are Not Associated with Prostate Cancer in Middle European Caucasians.
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- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006370
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- Publication type:
- Article
Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia.
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- 2000
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- Publication type:
- journal article
Lactobacilli and acidosis in children with short small bowel.
- Published in:
- 2000
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- Publication type:
- journal article
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA<sup>Trp</sup> gene.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 871, doi. 10.1038/ejhg.2012.272
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- Publication type:
- Article
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
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- 2004
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- Publication type:
- Directory
Mitochondriopathien - neue Trends in Diagnostik und Therapie.
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- Medizinische Genetik, 2015, v. 27, n. 3, p. 282, doi. 10.1007/s11825-015-0061-3
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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.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-38
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- Publication type:
- Article
Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors.
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- Neuro-Oncology, 2016, v. 18, n. 2, p. 184, doi. 10.1093/neuonc/nov105
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- Publication type:
- Article
Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma.
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- Carcinogenesis, 2004, v. 25, n. 6, p. 1005, doi. 10.1093/carcin/bgh104
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- Publication type:
- Article
Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.
- Published in:
- 2013
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- Publication type:
- Case Study
Galanin and galanin receptors in human gliomas.
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- Acta Neuropathologica, 2003, v. 105, n. 6, p. 555, doi. 10.1007/s00401-003-0680-7
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- Publication type:
- Article
Severe depletion of mitochondrial DNA in spinal muscular atrophy.
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- Acta Neuropathologica, 2003, v. 105, n. 3, p. 245, doi. 10.1007/s00401-002-0638-1
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- Publication type:
- Article
<sup>125</sup>I-labeled galanin binding sites in congenital innervation defects of the distal colon.
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- Acta Neuropathologica, 2003, v. 105, n. 1, p. 43, doi. 10.1007/s00401-002-0613-x
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- Publication type:
- Article
Expression of Neuropeptide Galanin and Galanin Receptors in Human Skin.
- Published in:
- 2004
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- Publication type:
- Letter
Sudden Infant Death Syndrome: Risk Factor Profiles for Distinct Subgroups.
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- American Journal of Epidemiology, 1998, v. 147, n. 10, p. 960, doi. 10.1093/oxfordjournals.aje.a009386
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- Publication type:
- Article
Spectrum of combined respiratory chain defects.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 4, p. 629, doi. 10.1007/s10545-015-9831-y
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- Publication type:
- Article
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 391, doi. 10.1007/s10545-014-9787-3
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- Publication type:
- Article
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 467, doi. 10.1007/s10545-014-9796-2
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- Publication type:
- Article
Lipoic acid biosynthesis defects.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 553, doi. 10.1007/s10545-014-9705-8
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- Publication type:
- Article
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 923, doi. 10.1007/s10545-012-9580-0
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- Publication type:
- Article
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 7, doi. 10.1007/s10545-012-9485-y
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- Publication type:
- Article
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 55, doi. 10.1007/s10545-012-9489-7
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- Publication type:
- Article
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
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2247, doi. 10.1093/hmg/ddu743
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- Publication type:
- Article
THE AUTHORS REPLY.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7 , 32.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
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- Publication type:
- Article