Magner M - Search Results

1

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. Among authors: magner m. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385

2

The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation.

Pejznochová M, Tesařová M, Honzík T, Hansíková H, Magner M, Zeman J. Pejznochová M, et al. Among authors: magner m. Physiol Res. 2008;57(6):947-955. doi: 10.33549/physiolres.931246. Epub 2007 Nov 30. Physiol Res. 2008. PMID: 18052680 Free article.

3

X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.

Martanová H, Krepelová A, Baxová A, Hansíková H, Cánský Z, Kvapil M, Gregor V, Magner M, Zeman J. Martanová H, et al. Among authors: magner m. Prague Med Rep. 2007;108(3):263-9. Prague Med Rep. 2007. PMID: 18399064

4

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S. Cízková A, et al. Among authors: magner m. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340

5

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L. Vazna A, et al. Among authors: magner m. Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812. Am J Med Genet A. 2009. PMID: 19396826 Free PMC article.

6

Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

Honzík T, Magner M, Janda A, Bartůnková J, Polásková S, Zeman J. Honzík T, et al. Among authors: magner m. Prague Med Rep. 2008;109(2-3):184-93. Prague Med Rep. 2008. PMID: 19548600

7

Mitochondrial DNA haplogroups in the Czech population compared to other European countries.

Vidrová V, Tesarová M, Trefilova E, Honzík T, Magner M, Zeman J. Vidrová V, et al. Among authors: magner m. Hum Biol. 2008 Dec;80(6):669-74. doi: 10.3378/1534-6617-80.6.669. Hum Biol. 2008. PMID: 19728543

8

SURF1 missense mutations promote a mild Leigh phenotype.

Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: magner m. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766

9

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

Kasper DC, Iqbal F, Dvorakova L, Zeman J, Magner M, Bodamer O, Pollak A, Herkner KR, Item CB. Kasper DC, et al. Among authors: magner m. Clin Chim Acta. 2010 Mar;411(5-6):345-50. doi: 10.1016/j.cca.2009.11.027. Epub 2009 Nov 29. Clin Chim Acta. 2010. PMID: 19954743

10

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

Honzik T, Adamovicova M, Smolka V, Magner M, Hruba E, Zeman J. Honzik T, et al. Among authors: magner m. Eur J Paediatr Neurol. 2010 Nov;14(6):488-95. doi: 10.1016/j.ejpn.2009.12.003. Epub 2010 Jan 20. Eur J Paediatr Neurol. 2010. PMID: 20089427

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