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Items: 1 to 50 of 238

1.

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma.

Hůlková H, Svojanovský J, Sevela K, Krusová D, Hanuš J, Vězda P, Souček M, Márová I, Feit J, Zambo I, Kovačevicova M, Vlášková H, Kostrouchová V, Novák P, Kostrouch Z, Elleder M.

Amyloid. 2014 Mar;21(1):57-61. doi: 10.3109/13506129.2013.851076. Epub 2013 Nov 15.

PMID:
24479650
2.

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J.

J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29.

PMID:
23716275
3.

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.

Sticova E, Elleder M, Hulkova H, Luksan O, Sauer M, Wunschova-Moudra I, Novotny J, Jirsa M.

World J Gastroenterol. 2013 Feb 14;19(6):946-50. doi: 10.3748/wjg.v19.i6.946.

4.

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.

Int Heart J. 2012;53(6):383-7.

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.

Mol Genet Metab. 2012 Nov;107(3):611-3. doi: 10.1016/j.ymgme.2012.08.014. Epub 2012 Aug 23.

PMID:
22959829
6.

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

Hůlková H, Elleder M.

Histopathology. 2012 Jun;60(7):1107-13. doi: 10.1111/j.1365-2559.2011.04164.x.

PMID:
22621222
7.

[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis].

Adam Z, Elleder M, Moulis M, Tichý M, Cervinková I, Rehák Z, Koukalová R, Fojtík Z, Hanke I, Pour L, Krejčí M, Zahradová L, Szturz P, Hájek R, Král Z, Mayer J.

Vnitr Lek. 2012 Mar;58(3):241-52. Czech.

PMID:
22486293
8.

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J.

Gene. 2012 May 1;498(2):183-95. doi: 10.1016/j.gene.2012.02.004. Epub 2012 Feb 21.

PMID:
22365987
9.

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease.

Hůlková H, Ledvinová J, Kuchař L, Šmíd F, Honzíková J, Elleder M.

Glycobiology. 2012 May;22(5):725-32. doi: 10.1093/glycob/cws050. Epub 2012 Feb 7.

PMID:
22319058
10.

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.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

11.

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, Hrdlickova E, Tesarova M, Elleder M, Zeman J, Meek KM, Knupp C, Quantock AJ.

Invest Ophthalmol Vis Sci. 2011 Aug 24;52(9):6720-8. doi: 10.1167/iovs.11-7377.

PMID:
21743015
12.

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

Baldo G, Matte U, Artigalas O, Schwartz IV, Burin MG, Ribeiro E, Horovitz D, Magalhaes TP, Elleder M, Giugliani R.

Mol Genet Metab. 2011 Jun;103(2):197-8. doi: 10.1016/j.ymgme.2011.03.002. Epub 2011 Mar 22.

PMID:
21427013
13.

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

Bleyer AJ, Zivná M, Hulková H, Hodanová K, Vyletal P, Sikora J, Zivný J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS.

Clin Nephrol. 2010 Dec;74(6):411-22.

14.

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

Sharifi A, Kousi M, Sagné C, Bellenchi GC, Morel L, Darmon M, Hulková H, Ruivo R, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, Jalanko A, Gasnier B, Kyttälä A.

Hum Mol Genet. 2010 Nov 15;19(22):4497-514. doi: 10.1093/hmg/ddq381. Epub 2010 Sep 7.

15.

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

Zídková L, Krijt J, Sládková J, Hlobilková A, Magner M, Zikánová M, Kmoch S, Friedecký D, Zeman J, Elleder M, Adam T.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):286-8. doi: 10.1016/j.ymgme.2010.06.014. Epub 2010 Jun 25.

PMID:
20674424
16.

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Crnic LS, Allen RH, Stabler SP, Elleder M, Kraus JP.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):163-71. doi: 10.1016/j.ymgme.2010.06.007. Epub 2010 Jun 22.

17.

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.

Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Overdier KH, Collard R, Brodsky GL, Meltesen L, Crnic LS, Allen RH, Stabler SP, Elleder M, Rozen R, Patterson D, Kraus JP.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):153-62. doi: 10.1016/j.ymgme.2010.06.010. Epub 2010 Jun 23.

18.

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

Hůlková H, Elleder M.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S297-300. doi: 10.1007/s10545-010-9160-0. Epub 2010 Jul 14.

19.

Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extraction.

Petr T, Smíd V, Smídová J, Hůlková H, Jirkovská M, Elleder M, Muchová L, Vitek L, Smíd F.

Eur J Histochem. 2010 May 12;54(2):e23.

20.

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.

Poupetová H, Ledvinová J, Berná L, Dvoráková L, Kozich V, Elleder M.

J Inherit Metab Dis. 2010 Aug;33(4):387-96. doi: 10.1007/s10545-010-9093-7. Epub 2010 May 20.

21.

More on clinical renal genetics.

Grünfeld JP, Hwu W, Chien Y, Lee N, Chiang S, Dobrovolny R, Huang A, Yeh H, Chao M, Lin S, Kitagawa T, Desnick R, Hsu L, Van Keimpema L, Nevens F, Vanslembrouck R, Van Oijen G, Hoffmann A, Dekker H, De Man R, Drenth J, Alamovitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agrmael T, Marro B, Ronco P, Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns J, Hart P, Hart T, Adams J, Pawtowski A, Clemessy M, Gasc J, Gubler M, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer A, Kmoch S, Brown E, Schlöndorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M.

Clin J Am Soc Nephrol. 2010 Apr;5(4):563-7. doi: 10.2215/CJN.01720210. Epub 2010 Mar 25. No abstract available.

22.

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.

Hůlková H, Poupetová H, Harzer K, Mistry P, Aerts JM, Elleder M.

J Inherit Metab Dis. 2010 Feb;33(1):69-78. doi: 10.1007/s10545-009-9018-5. Epub 2010 Jan 5.

23.

Diagnosis of Niemann-Pick type C (NPC)--decisions at the cell level. Pathologist's report.

Elleder M.

Mol Genet Metab. 2010 Jan;99(1):98. doi: 10.1016/j.ymgme.2009.09.011. No abstract available.

PMID:
19822450
24.

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S.

Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6.

25.

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process.

Hůlková H, Ledvinová J, Poupetová H, Kohout A, Malinová V, Elleder M.

J Inherit Metab Dis. 2009 Aug;32(4):551-9. doi: 10.1007/s10545-009-1178-9. Epub 2009 Jun 26.

PMID:
19557545
26.

Danon disease: further clinical and molecular heterogeneity.

Sabourdy F, Michelakakis H, Anastasakis A, Garcia V, Mavridou I, Nieto M, Pons MC, Skiadas C, Moraitou M, Manta P, Elleder M, Levade T.

Muscle Nerve. 2009 Jun;39(6):837-44. doi: 10.1002/mus.21252.

PMID:
19373884
27.

Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease.

Palecek T, Bultas J, Hajek M, Karetova D, Kuchynka P, Kautzner J, Elleder M, Linhart A.

Int J Cardiol. 2010 Oct 8;144(2):337-9. doi: 10.1016/j.ijcard.2009.03.045. Epub 2009 Apr 2.

PMID:
19344961
28.

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, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K.

Am J Med Genet A. 2009 Feb 15;149A(4):613-21. doi: 10.1002/ajmg.a.32712.

29.

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 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.

PMID:
19201763
30.

[The isolated form of cardiac amyloidosis in the form of beginning infiltrative cardiomyopathy without restrictive physiology].

Kuchynka P, Palecek T, Simek S, Lubanda JC, Elleder M, Spicka I, Jansa P, Linhart A.

Vnitr Lek. 2008 Oct;54(10):1010-3. Czech.

PMID:
19009770
31.

Intravascular ultrasound assessment of coronary artery involvement in Fabry disease.

Kovarnik T, Mintz GS, Karetova D, Horak J, Bultas J, Skulec R, Skalicka H, Aschermann M, Elleder M, Linhart A.

J Inherit Metab Dis. 2008 Dec;31(6):753-60. doi: 10.1007/s10545-008-0794-0. Epub 2008 Nov 8.

PMID:
18998239
32.

Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy.

Hůlková H, Druga R, Ondrejovic P, Elleder M.

Acta Neuropathol. 2008 Dec;116(6):667-9. doi: 10.1007/s00401-008-0441-8. Epub 2008 Oct 8. No abstract available.

PMID:
18841374
33.

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. doi: 10.1016/j.echo.2008.09.002. Epub 2008 Oct 4.

PMID:
18835697
34.

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.

Vylet'al P, Hůlková H, Zivná M, Berná L, Novák P, Elleder M, Kmoch S.

J Inherit Metab Dis. 2008 Aug;31(4):508-17. doi: 10.1007/s10545-008-0900-3. Epub 2008 Jul 27.

PMID:
18651238
35.

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

Elleder M.

Virchows Arch. 2008 Jun;452(6):705; author reply 707-8. doi: 10.1007/s00428-008-0614-9. Epub 2008 May 7. No abstract available.

PMID:
18461355
36.

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.

37.

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. doi: 10.1007/s00428-008-0586-9. Epub 2008 Mar 20.

38.

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. doi: 10.1007/s00401-008-0349-3. Epub 2008 Feb 19.

39.

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. doi: 10.1111/j.1600-0463.2008.00772.x.

PMID:
18254779
40.

A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance.

Sikora J, Dvoráková L, Vlásková H, Stolnaja L, Betlach J, Spacek J, Elleder M.

Cesk Patol. 2007 Jul;43(3):93-103.

PMID:
17821837
41.

Proteomic analysis of hepatic iron overload in mice suggests dysregulation of urea cycle, impairment of fatty acid oxidation, and changes in the methylation cycle.

Petrak J, Myslivcova D, Man P, Cmejla R, Cmejlova J, Vyoral D, Elleder M, Vulpe CD.

Am J Physiol Gastrointest Liver Physiol. 2007 Jun;292(6):G1490-8. Epub 2007 Feb 15.

42.

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. Epub 2006 Dec 28.

PMID:
17239335
44.

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. Epub 2006 Oct 6.

45.

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.

Ultrastruct Pathol. 2006 Jul-Aug;30(4):239-45.

PMID:
16971348
46.

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S.

Kidney Int. 2006 Sep;70(6):1155-69. Epub 2006 Aug 2.

47.

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

Dvorakova L, Sikora J, Hrebicek M, Hulkova H, Bouckova M, Stolnaja L, Elleder M.

J Inherit Metab Dis. 2006 Aug;29(4):591. Epub 2006 Jun 26.

PMID:
16802107
48.

[Discussion to the paper of doc. M. Spála "impact factor good servant, but a bad master"].

Elleder M.

Cas Lek Cesk. 2006;145(3):224. Czech. No abstract available.

PMID:
16634485
49.

Gene symbol: ARSA. Disease: metachromatic leukodystrophy.

Berna L, Gieselmann V, Poupetova H, Hrebicek M, Elleder M, Ledvinova J.

Hum Genet. 2005 Dec;118(3-4):538. No abstract available.

PMID:
16521259
50.

Gene symbol: ARSA. Disease: metachromatic leukodystrophy.

Berna L, Gieselmann V, Poupetova H, Hrebicek M, Elleder M, Ledvinova J.

Hum Genet. 2005 Dec;118(3-4):538. No abstract available.

PMID:
16521257

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