Detalhe da pesquisa
1.
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Kidney Int
; 101(2): 349-359, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34560138
2.
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.
J Inherit Metab Dis
; 45(3): 584-592, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35088900
3.
Serum Bilirubin in the Czech Populationã- Relationship to the Risk of Myocardial Infarction in Males.
Circ J
; 84(10): 1779-1785, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32848115
4.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Mol Genet Metab
; 121(3): 206-215, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28583327
5.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
BMC Neurol
; 14: 154, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135358
6.
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
PLoS One
; 18(7): e0288907, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37471416
7.
Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes.
Blood Cells Mol Dis
; 46(3): 239-45, 2011 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21256059
8.
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Hum Mutat
; 30(6): 918-25, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19479962
9.
Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping.
Orphanet J Rare Dis
; 14(1): 10, 2019 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626423
10.
COQ2 polymorphisms are not associated with increased risk of statin-induced myalgia/myopathy in the Czech population.
Drug Metab Pers Ther
; 32(4): 177-182, 2017 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29257754
11.
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
J Dermatol Case Rep
; 10(3): 39-48, 2016 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28400893
12.
HGSNAT has a TATA-less promoter with multiple starts of transcription.
Gene
; 592(1): 36-42, 2016 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27452122
13.
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
Pharmacogenomics
; 17(13): 1405-14, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27296017
14.
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.
J Neuromuscul Dis
; 3(4): 517-527, 2016 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911335
15.
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
PLoS One
; 8(12): e82549, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24349310
16.
Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
J Clin Immunol
; 27(6): 640-6, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17851739
17.
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Am J Hum Genet
; 79(5): 807-19, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17033958