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zadetkov: 355
1.
  • A recurrent single-amino ac... A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy
    Bader, Ingrid; Freilinger, M; Landauer, F ... Orphanet journal of rare diseases, 07/2022, Letnik: 17, Številka: 1
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    Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to ...
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2.
  • Natural disease course and ... Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
    Koene, S.; Rodenburg, R. J.; van der Knaap, M. S. ... Journal of inherited metabolic disease, September 2012, Letnik: 35, Številka: 5
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    Mitochondrial complex I is the largest multi-protein enzyme complex of the oxidative phosphorylation system. Seven subunits of this complex are encoded by the mitochondrial and the remainder by the ...
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3.
  • Clinical Experience of Neur... Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study
    Rogac, M; Neubauer, D; Leonardis, L ... Balkan journal of medical genetics, 11/2021, Letnik: 24, Številka: 2
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    The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience. Neurological clinical examination, brain ...
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4.
  • Molecular medicine: pathobi... Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases
    Mayr, J A; Feichtinger, R G; Achleitner, M T ... Monatsschrift Kinderheilkunde, 09/2021, Letnik: 169, Številka: 9
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    Genetic defects are often still regarded as a life-long fate, which one has to cope with. It is true that in many cases an inherited disposition may lead to a severe disease; however, it is also true ...
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5.
  • Propionic acidemia: neonata... Propionic acidemia: neonatal versus selective metabolic screening
    Grünert, S. C.; Müllerleile, S.; de Silva, L. ... Journal of inherited metabolic disease, January 2012, Letnik: 35, Številka: 1
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    Background Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse. Study design Twenty PA ...
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6.
  • Lack of complex I is associ... Lack of complex I is associated with oncocytic thyroid tumours
    ZIMMERMANN, F. A; MAYR, J. A; NEUREITER, D ... British journal of cancer, 05/2009, Letnik: 100, Številka: 9
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    Oncocytic tumours are characterised by hyperproliferation of mitochondria. We immunohistochemically analysed all enzymes of the oxidative phosphorylation system in 19 oncocytic thyroid tumours. A ...
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7.
  • MKS1 mutations cause jouber... MKS1 mutations cause joubert syndrome with agenesis of the corpus callosum
    Bader, Ingrid; Decker, E; Mayr, J.A ... European journal of medical genetics, 08/2016, Letnik: 59, Številka: 8
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    Abstract Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor ...
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8.
  • G.P.188 G.P.188
    Wilichowski, E.K.G; Abicht, A; Mayr, H ... Neuromuscular disorders : NMD, 10/2014, Letnik: 24, Številka: 9
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    Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) disorder characterized by ophthalmoplegia, ptosis, retinopathy, onset before age 20 years plus one: cardiac conduction defects, cerebellar ...
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9.
  • Difficulties in recognition... Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
    Ciara, E.; Rokicki, D.; Halat, P. ... Molecular genetics and metabolism reports, 06/2016, Letnik: 7, Številka: C
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    Pyruvate dehydrogenase complex (PDHc) defect is a well-known cause of mitochondrial disorders (MD) with at least six responsible genes (PDHA1, PDHB, DLAT, DLD, PDHX, PDP1). The aim of this work was ...
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10.
  • Mitochondrial DNA mutations... Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism
    MEIERHOFER, D; MAYR, J. A; FINK, K ... British journal of cancer, 01/2006, Letnik: 94, Številka: 2
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    Previously, renal cell carcinoma tissues were reported to display a marked reduction of components of the respiratory chain. To elucidate a possible relationship between tumourigenesis and ...
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zadetkov: 355

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