| Rok vydání |
Název článku |
Autoři |
Bibliografické údaje |
Impact factor |
Poznámky |
| 2005 |
Diagnostické aspekty familiární juvenilní hyperurikemické nefropatie |
Stibůrková B., Šebesta I., Kmoch S. |
Čas. Lék Čes. 2005; 144: 466-471 |
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| 2005 |
Diferenciální diagnostika hyperurikémie u dědičných metabolických onemocnění |
Stibůrková B., Šebesta I., Pospíšilová E., Šťastná S., Kumšta M., Zeman J., Kmoch S. |
Klin. Biochem. Metab.,13 (34), 2005, No.1.p.18-23 |
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| 2005 |
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome. |
Cebecauerova D, Jirasek T, Budisova L, Mandys V, Volf V, Novotna Z, Subhanova I, Hrebicek M, Elleder M, Jirsa M. |
Gastroenterology. 2005 Jul;129(1):315-20 |
12.386 |
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| 2005 |
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. |
Elleder M, Jerabkova M, Befekadu A, Hrebicek M, Berna L, Ledvinova J, Hulkova H, Rosewich H, Schymik N, Paton BC, Harzer K. |
Neuropediatrics. 2005 Jun;36(3):171-80 |
1.377 |
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| 2005 |
Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study. |
Hulkova H, Ledvinova J, Asfaw B, Koubek K, Kopriva K, Elleder M. |
Virchows Arch. 2005 Jul;447(1):31-44. Epub 2005 May 26. |
2.224 |
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| 2005 |
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. |
Pavlu-Pereira H, Asfaw B, Poupctova H, Ledvinova J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotna Z, Chudoba D, Elleder M. |
J Inherit Metab Dis. 2005;28(2):203-27 |
1.722 |
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| 2005 |
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. |
Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M. |
J Mol Med. 2005 Aug;83(8):647-54 Epub 2005 Apr 2. |
4.702 |
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| 2005 |
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation. |
Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Poupetova H, Elleder M, Karetova D, Hrebicek M. |
Am J Med Genet A. 2005 Apr 1;134(1):84-7 |
1.913 |
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| 2005 |
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate. |
van Diggelen OP, Voznyi YV, Keulemans JL, Schoonderwoerd K, Ledvinova J, Mengel E, Zschiesche M, Santer R, Harzer K. |
J Inherit Metab Dis. 2005;28(5):733-41 |
1.722 |
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| 2005 |
Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase. |
Hujova J, Sikora J, Dobrovolny R, Poupetova H, Ledvinova J, Kostrouchova M, Hrebicek M. |
BMC Cell Biol. 2005 Jan 27;6(1):5 |
2.652 |
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| 2005 |
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. |
Zavadakova P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. |
Hum Mutat. 2005 Mar;25(3):239-47 |
7.923 |
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| 2005 |
Expression of CD44v6 correlates with cell proliferation and cellular atypia in urothelial carcinoma cell lines 5637 and HT1197. |
Kuncova J, Kostrouch Z, Viale M, Revoltella R, Mandys V. |
Folia Biol (Praha). 2005;51(1):3-11 |
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| 2005 |
Genetic determinants of folate status in Central Bohemia. |
Vesela K, Pavlikova M, Janosikova B, Andel M, Zvarova J, Hyanek J, Kozich V. |
Physiol Res. 2005;54(3):295-303 |
1.806 |
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| 2005 |
Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population? |
Janosikova B, Zavadakova P, Kozich V. |
Eur J Hum Genet. 2005 Jan;13(1):86-95 |
3.251 |
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| 2005 |
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. |
Hodanova K, Majewski J, Kublova M, Vyletal P, Kalbacova M, Stiburkova B, Hulkova H, Chagnon YC, Lanouette CM, Marinaki A, Fryns JP, Venkat-Raman G, Kmoch S. |
Kidney Int. 2005 Oct;68(4):1472-82 |
4.927 |
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| 2005 |
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. |
Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B. |
Mol Genet Metab. 2005 Nov;86(3):353-9 |
2.678 |
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| 2005 |
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. |
Poeppel P, Habetha M, Marcao A, Bussow H, Berna L, Gieselmann V. |
FEBS J. 2005 Mar;272(5):1179-88 |
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| 2005 |
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. |
Zavadakova P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. |
Hum Mutat. 2005 Mar;25(3):239-47 |
7.923 |
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| 2005 |
Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency |
Zikanova M, Krijt J, Hartmannova H, Kmoch S. |
J Inherit Metab Dis. 2005;28(4):493-9 |
1.722 |
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| 2006 |
Subclinical course of adult visceral NiemannPick type C1 disease. A rare or underdiagnosed disorder? |
L. Dvorakova, J. Sikora, M. Hrebicek, H. Hulkova, M. Bouckova, L. Stolnaja, M. Elleder |
J Inherit Metab Dis. 2006 Aug;29(4):591 |
1.574 |
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| 2006 |
X-vázaná adrenoleukodystrofie u jednadvaceti českých pacientů |
Dvořáková L., Hřebíček M., Jahnová H., Starý J., Seidl Z., Leiská A., Zeman J. |
Čes.-slov. Pediat. 61 (3), 129-136, 2006 |
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| 2006 |
A nationwide blood spot screening study for Fabry disease in Czech Republic haemodialysis patient population. |
Merta M, Reiterova J, Ledvinova J, Poupetova H, Dobrovolny R, Rysava R, Maixnerova D, Bultas J, Motan J, Slivkova J, Sobotova D, Smrzova J, Tesar V. |
Nephrol Dial Transplant. 2007 Jan;22(1):179-86 |
3.154 |
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| 2006 |
Elevated and deregulated expression of HDAC3 in human astrocytic glial tumours. |
Liby P, Kostrouchova M, Pohludka M, Yilma P, Hrabal P, Sikora J, Brozova E, Kostrouchova M, Rall JE, Kostrouch Z. |
Folia Biol (Praha). 2006;52(1-2):21-33 |
0.387 |
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| 2006 |
BIR-1, the Homologue of Human Survivin, Regulates Expression of Developmentally Active Collagen Genes in C. elegans |
P. LIBÝ, M. POHLUDKA, J. VOHÁNKA, M. KOSTROUCHOVÁ, D. KOSTROUCH, M. KOSTROUCHOVÁ, J. E. RALL, Z. KOSTROUCH |
Folia Biol (Praha). 2006;52: 101-108 |
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| 2006 |
NHR-40, a Caenorhabditis elegans supplementary nuclear receptor, regulates embryonic and early larval development. |
Brozova E, Simeckova K, Kostrouch Z, Rall JE, Kostrouchova M. |
Mech Dev. 2006 Sep;123(9):689-701 |
3.836 |
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| 2006 |
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. |
Vylet'al P, Kublova M, Kalbacova M, Hodanova K, Baresova V, Stiburkova B, Sikora J, Hulkova H, Zivny J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. |
Kidney Int. 2006 Sep;70(6):1155-69 |
4.773 |
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| 2006 |
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). |
Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. |
Am J Hum Genet. 2006 Nov;79(5):807-19 |
12.629 |
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| 2006 |
Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data. |
Elleder M |
J Inherit Metab Dis 2006;29(6):707-715 |
1.574 |
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| 2006 |
An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence. |
Vernerová Z, Rychlík I, Brunerová L, Dvoráková L, Pavelková A, Sebesta I |
Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1305-8 |
0.723 |
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| 2006 |
Retrospective sequence analysis of the human PRNP gene from the formaldehyde-fixed paraffin-embedded tissues: report of two cases of Creutzfeldt-Jakob disease. |
Sikora J, Srbová A, Koukolík F, Matej R |
Folia Microbiol (Praha). 2006;51(6):619-25 |
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| 2007 |
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. |
Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R |
J Pediatr. 2007 Jan;150(1):57-61 |
4,017 |
společně s KDDL |
| 2007 |
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. |
Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V |
Hum Mutat. 2007 Mar;28(3):255-64 |
6,273 |
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| 2007 |
Chemical chaperone rescue of mutant human cystathionine beta-synthase. |
Singh LR, Chen X, Kozich V, Kruger WD |
Mol Genet Metab. 2007 Aug;91(4):335-42 |
2,550 |
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| 2007 |
Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin. |
Sikora J, Harzer K, Elleder M |
Acta Neuropathol. 2007 Feb;113(2):163-75 |
3,179 |
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| 2007 |
Supplementary nuclear receptor NHR-60 is required for normal embryonic and early larval development of Caenorhabditis elegans. |
Simecková K, Brozová E, Vohánka J, Pohludka M, Kostrouch Z, Krause MW, Rall JE, Kostrouchová M |
Folia Biol (Praha). 2007;53(3):85-96 |
0,596 |
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| 2007 |
Valproic acid, a molecular lead to multiple regulatory pathways. |
Simecková K, Brozová E, Vohánka J, Pohludka M, Kostrouch Z, Krause MW, Rall JE, Kostrouchová M |
Folia Biol (Praha). 2007;53(2):37-49 |
0,596 |
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| 2007 |
Gene symbol: ABCD1. |
Dvoráková L, Carrero-Valenzuela RD, Antelo T, Fagalde J, Merched D |
Hum Genet. 2007 Apr;121(2):288 |
3,974 |
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| 2007 |
Genetic and clinical features of patients with Gaucher disease in Hungary. |
Erdos M, Hodanova K, Taskó S, Palicz A, Stolnaja L, Dvorakova L, Hrebicek M, Maródi L |
Blood Cells Mol Dis. 2007 Jul-Aug;39(1):119-23 |
2,555 |
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| 2007 |
Natural history of the respiratory involvement in Anderson-Fabry disease. |
Magage S, Lubanda JC, Susa Z, Bultas J, Karetová D, Dobrovolný R, Hrebícek M, Germain DP, Linhart A |
J Inherit Metab Dis. 2007 Oct;30(5):790-9 |
1,668 |
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| 2007 |
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. |
Dobrovolny R, Liskova P, Ledvinova J, Poupetova H, Asfaw B, Filipec M, Jirsova K, Kraus J, Elleder M |
Am J Ophthalmol. 2007 Apr;143(4):663-71 |
2,628 |
společně s oční lab. |
| 2008 |
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. |
Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumic' K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J |
Mol Genet Metab. 2008 Mar;93(3):275-81 |
2,550 |
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| 2008 |
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. |
Matej R, Dvoráková L, Mrázová L, Houst'ková H, Elleder M |
Clin Neuropathol. 2008 Mar-Apr;27(2):64-71 |
0,720 |
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| 2008 |
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 |
APMIS. 2008 Jan;116(1):41-9 |
1,421 |
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| 2008 |
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 |
Acta Neuropathol. 2008 Jul;116(1):119-24 |
3,179 |
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| 2008 |
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. |
Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E |
Mol Genet Metab. 2008 Aug;94(4):435-424 |
2,550 |
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| 2008 |
Proteomic analysis uncovers a metabolic phenotype in C. elegans after nhr-40 reduction of function. |
Pohludka M, Simeckova K, Vohanka J, Yilma P, Novak P, Krause MW, Kostrouchova M, Kostrouch Z |
Biochem Biophys Res Commun. 2008 Sep 12;374(1):49-54 |
2,749 |
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| 2008 |
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. |
Gupta S, Wang L, Hua X, Krijt J, Kozich V, Kruger WD |
Hum Mutat. 2008 Aug;29(8):1048-54 |
6,273 |
|
| 2008 |
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene. |
Janošík M, Sokolová J, Janošíková B, Krijt J, Klatovská V, Kožich V |
J Pediatr. 2008 Oct 23. [Epub ahead of print] |
4,017 |
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| 2008 |
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients. |
Keslová-Veselíková J, Hůlková H, Dobrovolný R, Asfaw B, Poupetová H, Berná L, Sikora J, Golán L, Ledvinová J, Elleder M |
Virchows Arch. 2008 Jun;452(6):651-65 |
2,029 |
|
| 2008 |
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 |
Nat Genet. 2008 Nov;40(11):1288-90 |
25,556 |
společně s KDDL |
| 2008 |
HIF and reactive oxygen species regulate oxidative phosphorylation in cancer. |
Hervouet E, Cízková A, Demont J, Vojtísková A, Pecina P, Franssen-van Hal NL, Keijer J, Simonnet H, Ivánek R, Kmoch S, Godinot C, Houstek J |
Carcinogenesis. 2008 Aug;29(8):1528-37 |
5,406 |
společně s KDDL |
| 2008 |
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. |
Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houste(k J, Kmoch S. |
BMC Genomics. 2008 Jan 25;9:38 |
4,180 |
společně s KDDL |
| 2008 |
Unusual presentation of Kelley-Seegmiller syndrome. |
Sebesta I, Stibůrková B, Dvorakova L, Hrebicek M, Minks J, Stolnaja L, Vernerova Z, Rychlik I |
Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):648-55 |
0,723 |
společně s UKBLD |
| 2008 |
Right ventricular involvement in Fabry disease. |
Palecek T, Dostalova G, Kuchynka P, Karetova D, Bultas J, Elleder M, Linhart A |
J Am Soc Echocardiogr. 2008 Nov;21(11):1265-8 |
2,062 |
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| 2008 |
Danon disease: Further clinical and molecular heterogeneity. |
Sabourdy F, Michelakis H, Anastasakis A, Garcia V, Mavridou I, Nieto M, Pons M-C, Skiadas C, Moraitou M, Manta P, Elleder M, Levade T |
Muscle and Nerve Nov 2008 accepted |
2,424 |
|
| 2008 |
Prosaposin deficiency and saposin B deficiency (Activator-Deficient Metachromatic Leukodystrophy); Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. |
Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermöller H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K |
American Journal of Medical Genetics |
2,440 |
Odesláno k posouzení |
| 2009 |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. |
Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE |
Brain. 2009 Feb 5. [Epub ahead of print] |
8,568 |
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