Valis M, Masopust J, Bažant J, Ríhová Z, Kalnická D, Urban A, Zumrová A, Hort J.
Journal Article 2011; 32(3): 354-359 PubMed PMID: 21712788 Keywords: Adult, Age of Onset, Attention:physiology, Cognition:physiology, Cognition Disorders:etiology, Executive Function, Female, Humans, Learning:physiology, Male, Memory:physiology, Middle Aged, Neuropsychological Tests, Psychomotor Performance:physiology, Spi. CitationOBJECTIVES: Cognitive disorders and dementia occur in 19 to 42% of patients with spinocerebellar ataxia type 2 (SCA2). Neuropsychological .....
Valis M, Masopust J, Bažant J, Ríhová Z, Kalnická D, Urban A, Zumrová A, Hort J. Cognitive changes in spinocerebellar ataxia type 2. Neuro Endocrinol Lett. 2011 Jan; 32(3): 354-359
Kulisek R, Hrncir Z, Hrdlicka M, Faladova L, Sterbova K, Krsek P, Vymlatilova E, Palus M, Zumrová A, Komárek V.
Journal Article 2008; 29(4): 512-517 PubMed PMID: 18766147 Keywords: Autistic Disorder:physiopathology, Child, Child, Preschool, Electroencephalography, Humans, Intellectual Disability:physiopathology, Polysomnography, Sleep:physiology,. CitationOBJECTIVES: Autism is a severe neurodevelopmental disorder with a high rate of epilepsy and subclinical epileptiform activity. High physic.....
Kulisek R, Hrncir Z, Hrdlicka M, Faladova L, Sterbova K, Krsek P, Vymlatilova E, Palus M, Zumrová A, Komárek V. Nonlinear analysis of the sleep EEG in children with pervasive developmental disorder. Neuro Endocrinol Lett. 2008 Aug; 29(4): 512-517
Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.
Case Reports 2006; 27(5): 579-585 PubMed PMID: 17159828 Keywords: Child, Preschool, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 8, Cytogenetic Analysis, DNA Methylation, Female, Humans, In Situ Hybridization, Fluorescence, Microsatellite Repeats, Prader-Willi Syndrome:genetics, Translocation, Genetic, Uniparen. CitationOBJECTIVES: In contrast to most human autosomal genes which are expressed biallelically, the expression of imprinted genes depends on the .....
Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. Neuro Endocrinol Lett. 2006 Oct; 27(5): 579-585
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
: Differential diagnosis in neurologic patients with spinocerebellar syndrome is complex as a result of the great degree of variability in.....
Zumrová A. Problems and possibilities in the differential diagnosis of Syndrome Spinocerebellar Ataxia. Neuro Endocrinol Lett. 2005 Apr; 26(2): 98-108
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