Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M, Dostalova T.
Case Reports 2016; 37(4): 269-276 PubMed PMID: 27857042 Keywords: Adolescent, Anodontia:diagnostic imaging, Basal Cell Nevus Syndrome:complications, Child, Child, Preschool, Cohort Studies, Czech Republic, Early Diagnosis, Female, Gene Duplication, Humans, Imaging, Three-Dimensional, Infant, Jaw:diagnostic imaging, Male. CitationOBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated w.....
Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M, Dostalova T. Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis. Neuro Endocrinol Lett. 2016 Sep; 37(4): 269-276
Paclt I, Koudelová J, Krepelová A, Uhlíková P, Gazdíková M, Bauer P.
Journal Article 2005; 26(4): 423-430 PubMed PMID: 16135997 Keywords: Attention Deficit Disorder with Hyperactivity:genetics, Biomarkers, Brain Chemistry:genetics, Genetic Markers, Humans,. Citation: ADHD (attention hyperactivity disorder) is a polygenetic disorder with various candidate genes. At this time, more than thirty dopaminer.....
Paclt I, Koudelová J, Krepelová A, Uhlíková P, Gazdíková M, Bauer P. Biochemical markers and genetic research of ADHD. Neuro Endocrinol Lett. 2005 Aug; 26(4): 423-430
Zumrová A, Krepelová A, Kyncl M, Maríková T, Prosková M, Cíbochová R, Sebronová V, Komárek V.
Case Reports 2005; 26(3): 213-218 PubMed PMID: 15990724 Keywords: Adolescent, Adult, Basal Ganglia:pathology, Calcinosis:genetics, Child, Child, Preschool, Czech Republic, Diagnosis, Differential, Dyskinesias:genetics, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Mutation, Pantothenate Kinase-Associa. Citation: Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction a.....
Zumrová A, Krepelová A, Kyncl M, Maríková T, Prosková M, Cíbochová R, Sebronová V, Komárek V. First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene. Neuro Endocrinol Lett. 2005 Jun; 26(3): 213-218
Zumrová A, Mazanec R, Vyhnálek M, Krepelová A, Musová Z, Krilová S, Appltová L, Havlovicová M.
Journal Article 2005; 26(1): 71-74 PubMed PMID: 15726025 Keywords: DNA:genetics, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome:complications, Friedreich Ataxia:genetics, Gait Ataxia:etiology, Humans, Iron-Binding Proteins:genetics, Middle Aged, Mutation:physiology, Nerve Tissue Proteins:genetics, Pheno. Citation: DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their muta.....
Zumrová A, Mazanec R, Vyhnálek M, Krepelová A, Musová Z, Krilová S, Appltová L, Havlovicová M. Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman. Neuro Endocrinol Lett. 2005 Feb; 26(1): 71-74