Elleder M - Search Results

1

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.

Vesela K, Hulkova H, Hansikova H, Zeman J, Elleder M. Vesela K, et al. Among authors: elleder m. APMIS. 2008 Jan;116(1):41-9. doi: 10.1111/j.1600-0463.2008.00772.x. APMIS. 2008. PMID: 18254779

2

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

Vesela K, Hansikova H, Tesarova M, Martasek P, Elleder M, Houstek J, Zeman J. Vesela K, et al. Among authors: elleder m. Acta Paediatr. 2004 Oct;93(10):1312-7. doi: 10.1080/08035250410008761. Acta Paediatr. 2004. PMID: 15499950

3

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.

Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A. Palecek T, et al. Among authors: elleder m. Int Heart J. 2012;53(6):383-7. doi: 10.1536/ihj.53.383. Int Heart J. 2012. PMID: 23258140 Free article.

4

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).

Hůlková H, Elleder M. Hůlková H, et al. Among authors: elleder m. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S297-300. doi: 10.1007/s10545-010-9160-0. Epub 2010 Jul 14. J Inherit Metab Dis. 2010. PMID: 20628902 Free PMC article.

5

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Honzík T, Magner M, Krijt J, Sokolová J, Vugrek O, Belužić R, Barić I, Hansíkova H, Elleder M, Veselá K, Bauerová L, Ondrušková N, Ješina P, Zeman J, Kožich V. Honzík T, et al. Among authors: elleder m. Mol Genet Metab. 2012 Nov;107(3):611-3. doi: 10.1016/j.ymgme.2012.08.014. Epub 2012 Aug 23. Mol Genet Metab. 2012. PMID: 22959829

6

Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA.

Brantová O, Tesarová M, Hansíková H, Elleder M, Zeman J, Sládková J. Brantová O, et al. Among authors: elleder m. Ultrastruct Pathol. 2006 Jul-Aug;30(4):239-45. doi: 10.1080/01913120600820112. Ultrastruct Pathol. 2006. PMID: 16971348

7

Mitochondrial DNA depletion in Alpers syndrome.

Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J. Tesarova M, et al. Among authors: elleder m. Neuropediatrics. 2004 Aug;35(4):217-23. doi: 10.1055/s-2004-821081. Neuropediatrics. 2004. PMID: 15328560

8

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S. Nosková L, et al. Among authors: elleder m. Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820099 Free PMC article.

9

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens.

Hůlková H, Elleder M. Hůlková H, et al. Among authors: elleder m. Histopathology. 2012 Jun;60(7):1107-13. doi: 10.1111/j.1365-2559.2011.04164.x. Histopathology. 2012. PMID: 22621222

10

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

Elleder M, Dvoráková L, Stolnaja L, Vlásková H, Hůlková H, Druga R, Poupetová H, Kostálová E, Mikulástík J. Elleder M, et al. Acta Neuropathol. 2008 Jul;116(1):119-24. doi: 10.1007/s00401-008-0349-3. Epub 2008 Feb 19. Acta Neuropathol. 2008. PMID: 18283468 Free PMC article.

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