Genomes and Genes
Affiliation: Charles University
Country: Czech Republic
- [Neuropathology of refractory epilepsy: the structural basis and mechanisms of epileptogenesis]J Zamecnik
Ustav patologie a molekulární medicíny, Praha
Cesk Patol 48:76-82. 2012..In addition to the diagnostics and classification of the lesions, the text provides a summary of current knowledge about the pathogenesis and mechanisms, by which they contribute to the genesis and spread of epilepsy...
- Autosomal recessive limb-girdle muscular dystrophies in the Czech RepublicKristyna Stehlikova
Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, Brno, 613 00, Czech Republic
BMC Neurol 14:154. 2014..In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes...
- Resistin in idiopathic inflammatory myopathiesMaria Filková
Institute of Rheumatology, Department of Experimental Rheumatology of the 1st Faculty of Medicine, Charles University in Prague, Na Slupi 4, Prague 2, 128 50, Czech Republic
Arthritis Res Ther 14:R111. 2012....
- [Pseudotumors of the central nervous system]J Zamecnik
Ústav patologie a molekulární medicíny 2, LF UK a FN Motol, Praha
Cesk Patol 48:184-9. 2012..To avoid a diagnostic error, pathologists have to rely on careful microscopic analysis along with its correlation with clinical data and neuroradiological findings...
- The extracellular matrix and diffusion barriers in focal cortical dysplasiasJosef Zamecnik
Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Uvalu 84, 150 06 Prague, Czech Republic
Eur J Neurosci 36:2017-24. 2012..Thus, the changed ECM composition and altered ECS diffusion properties might represent additional factors contributing to epileptogenicity in FCD...
- Muscle lymphocytic infiltrates in thymoma-associated myasthenia gravis are phenotypically different from those in polymyositisJosef Zamecnik
Department of Pathology and Molecular Medicine, Charles University, 2nd Medical Faculty and Faculty Hospital Motol, V Uvalu 84, 150 06 Prague, Czech Republic
Neuromuscul Disord 17:935-42. 2007..The finding of CD8+CD45RA+ lymphocytes in muscle may signify an underlying thymoma and should not be misdiagnosed as polymyositis...
- [Neuropathology of the glioneuronal lesions of the brain associated with pharmacoresistant epilepsy]J Zamecnik
Ustav patologie a molekulární medicíny, 2 LF UK a FN Motol, Praha
Cesk Patol 43:79-85. 2007..The results of those studies are discussed in the review as well...
- Atrophy of type II fibres in myasthenia gravis muscle in thymectomized patients: steroid-induced change with prognostic impactJosef Zamecnik
Department of Pathology and Molecular Medicine, Charles University Prague, 2nd Medical Faculty and University Hospital Motol, Prague, Czech Republic
J Cell Mol Med 13:2008-18. 2009..Therefore, the steroid-induced atrophy of type II fibres in MG muscle might be considered to be an unfavourable prognostic factor...
- Immunolocalization of protein-bound 3-nitrotyrosine in inflammatory myopathiesJ Zamecnik
Department of Pathology and Molecular Medicine, Charles University, 2nd Medical Faculty and University Hospital Motol, Prague, Czech Republic
Cesk Patol 47:62-5. 2011..Despite the pathogenetic significance, the 3NT immunohistochemistry is of low diagnostic value for the differential diagnosis of IIM in muscle biopsy...
- Value of thyroid transcription factor-1 and surfactant apoprotein A in the differential diagnosis of pulmonary carcinomas: a study of 109 casesJosef Zamecnik
Department of Pathology, Charles University, 2nd Medical School, V Uvalu 84, 150 06 Prague, Czech Republic
Virchows Arch 440:353-61. 2002..The combination of anti-TTF-1 with anti-SP-A does not increase the diagnostic usefulness of TTF-1 alone. Because of its diagnostic utility TTF-1 should be added to a panel of antibodies used for assessing tumors of unknown origin...
- Densities of parvalbumin-immunoreactive neurons in non-malformed hippocampal sclerosis-temporal neocortex and in cortical dysplasiasJ Zamecnik
Department of Pathology and Molecular Medicine, Charles University, 2nd Medical Faculty, V Uvalu 84, 150 06 Prague, Czech Republic
Brain Res Bull 68:474-81. 2006....
- Distribution of the extracellular matrix glycoproteins in ependymomas--an immunohistochemical study with follow-up analysisJ Zamecnik
Department of Pathology and Molecular Medicine, Charles University, 2nd Faculty of Medicine, 15006 Prague, Czech Republic
Neoplasma 51:214-22. 2004..An abundant production of some ECM glycoproteins (tenascin and vitronectin) is present in a proportion of ependymomas and its immunohistochemical detection is of prognostic relevance...
- The extracellular space and matrix of gliomasJosef Zamecnik
Department of Pathology and Molecular Medicine, Charles University, University Hospital Motol, 150 06 Prague, Czech Republic
Acta Neuropathol 110:435-42. 2005....
- Paraneoplastic opsoclonus-myoclonus syndrome associated with malignant fibrous histiocytoma: neuropathological findingsJ Zamecnik
Department of Pathology and Molecular Medicine, Charles University, 2nd Medical Faculty, Prague
Cesk Patol 40:63-7. 2004....
- Expression of thyroid transcription factor 1 in primary brain tumoursJ Zamecnik
Department of Pathology and Molecular Medicine, Charles University, Second Medical Faculty, 150 06 Prague, Czech Republic
J Clin Pathol 57:1111-3. 2004..Recently, TTF-1 expression was also observed in certain areas of postnatal brain...
- Pediatric intracranial ependymomas: prognostic relevance of histological, immunohistochemical, and flow cytometric factorsJosef Zamecnik
Department of Pathology and Molecular Medicine, Charles University, 2nd Medical School, Prague, Czech Republic
Mod Pathol 16:980-91. 2003..Foci of hypercellularity should be specifically looked for in ependymomas for assessing the immunohistochemical studies...
- 1H MR spectroscopy in histopathological subgroups of mesial temporal lobe epilepsyMilan Hajek
MR Unit, Department of Diagnostic and Interventional Radiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic
Eur Radiol 19:400-8. 2009..Subjects with non-lateralized (1)H MRS abnormalities did not have a worse postoperative seizure outcome. We found no significant impact of contralateral (1)H MRS abnormality on post-surgical seizure outcome...
- Diffusion parameters of the extracellular space in human gliomasLydia Vargova
Department of Neuroscience, Charles University, Second Medical Faculty, Prague, Czech Republic
Glia 42:77-88. 2003..Tumor malignancy grade strongly corresponds to an increase in ECS volume, which is accompanied by a change in ECS structure manifested by an increase in diffusion barriers for small molecules...
- SISCOM and FDG-PET in patients with non-lesional extratemporal epilepsy: correlation with intracranial EEG, histology, and seizure outcomeMartin Kudr
Department of Pediatric Neurology, Charles University, 2nd Faculty of Medicine, University Hospital Motol, Czech Republic
Epileptic Disord 15:3-13. 2013....
- (1)H MR spectroscopic imaging in patients with MRI-negative extratemporal epilepsy: correlation with ictal onset zone and histopathologyPavel Krsek
Department of Pediatric Neurology, Second Medical School, Motol Hospital, Charles University, Prague, Czech Republic
Eur Radiol 17:2126-35. 2007..1)H MRS could be more sensitive for the detection of discrete malformations of cortical development than conventional MRI. It is valuable in the presurgical evaluation of patients without MRI-apparent lesions...
- Clinical characteristics in patients with hippocampal sclerosis with or without cortical dysplasiaPetr Marusic
Neurology Department, Charles University, 2nd Faculty of Medicine, Motol Hospital, Praha, Czech Republic
Epileptic Disord 9:S75-82. 2007..The aim of the study was to review clinical variables of MTLE/HS patients in order to distinguish preoperatively patients with associated microscopic cortical dysplasia in the temporal pole...
- Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIaPetr Fabera
Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, 150 06, Czech Republic Department of Developmental Epileptology, Institute of Physiology, The Czech Academy of Sciences, Prague 142 20, Czech Republic
Seizure 31:120-3. 2015..Focal cortical dysplasia (FCD) represents a common cause of refractory epilepsy. It is considered a sporadic disorder, but its occasional familial occurrence suggests the involvement of genetic mechanisms...
- Frontal lobe epilepsy with atypical seizure semiology resembling shuddering attacks or wet dog shake seizuresAlena Jahodova
Department of Pediatric Neurology, Motol Epilepsy Centre, Charles University, 2nd Medical School, Motol Hospital, Prague, Czech Republic
Epileptic Disord 14:69-75. 2012..Focal cortical dysplasia type Ib was histologically confirmed and the patient has been seizure-free for the three years following resection. [Published with video sequences]...
- Inflammatory myopathy associated with statins: report of three casesKlara Kuncova
Department of Pathology and Molecular Medicine, Second Medical Faculty and University Hospital Motol, Charles University, Prague 5, Czech Republic
Mod Rheumatol 24:366-71. 2014..Moreover, multiple mitochondrial DNA deletions were found in two of them. The ability of statins to induce an immune-mediated response and their interactions with mitochondrial metabolism pathways are discussed...
- Immunohistochemical prognostic markers in intracranial ependymomas: systematic review and meta-analysisKlara Kuncova
2nd Medical School and University Hospital Motol, Department of Pathology and Molecular Medicine, Charles University, Prague, Czech Republic
Pathol Oncol Res 15:605-14. 2009..We encourage to search for new, useful markers, as well as to standardize lab-techniques and data interpretation algorithms across laboratories in order to increase data compatibility...
- Successful epilepsy surgery with a resection contralateral to a suspected epileptogenic lesionPavel Krsek
Department of Pediatric Neurology, Charles University, Second Medical School, Motol Hospital, Prague, Czech Republic
Epileptic Disord 9:82-9. 2007..The contralateral lesion was reassessed as nonspecific enlargement of perivascular spaces. The patient has been seizure-free for more than two years.[Published with video sequences]...
- The metastasis promoting protein S100A4 is increased in idiopathic inflammatory myopathiesLucie Andrés Cerezo
Department of Rheumatology of the First Faculty of Medicine, Institute of Rheumatology, Charles University, Na Slupi 4, 12850 Prague 2, Czech Republic
Rheumatology (Oxford) 50:1766-72. 2011..The aim of this study was to investigate the expression and possible role of S100A4 in idiopathic inflammatory myopathies...
- Increased visfatin levels are associated with higher disease activity in anti-Jo-1-positive myositis patientsHana Hulejová
Institute of Rheumatology, Prague, Czech Republic
Clin Exp Rheumatol 34:222-9. 2016....
- p16(INK4a) immunoprofiles of squamous lesions of the uterine cervix-implications for the reclassification of atypical immature squamous metaplasiaPetr Skapa
Department of Pathology and Molecular Medicine, Charles University, 2nd Medical School, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic
Pathol Oncol Res 19:707-14. 2013..The efficacy of CK 17 immunohistochemistry seems to be controversial for these purposes. ..
- Life-saving epilepsy surgery for status epilepticus caused by cortical dysplasiaPavel Krsek
Department of Paediatric Neurology, Charles University, 2nd Medical School, Motol University Hospital, Prague, Czech Republic
Epileptic Disord 4:203-8. 2002..The aim of the report is to encourage considering surgery in selected patients suffering from medically intractable SE early in life...
- Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher diseasePetra Lassuthová
Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic
J Child Neurol 29:924-31. 2014..PLP1 splice-site mutations express a variety of disease phenotypes mediated by different molecular pathogenic mechanisms. ..
- Magnetic resonance tracking of human CD34+ progenitor cells separated by means of immunomagnetic selection and transplanted into injured rat brainPavla Jendelova
Institute of Experimental Medicine ASCR, Prague, Czech Republic
Cell Transplant 14:173-82. 2005..The fact that microbeads coated with different commercially available antibodies can bind to specific cell types opens extensive possibilities for cell tracking in vivo...
- Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patientsMarketa Hermanova
Department of Pathology, University Hospital Brno, Jihlavska 20, 625 00, Brno, Czech Republic
Muscle Nerve 33:424-32. 2006....
- Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech RomaJaroslava Schwabova
Department of Child Neurology, Charles University in Prague 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
J Neurogenet 27:163-9. 2013..PCH1 caused by EXOSC3 founder mutation c.92G→C, p.G31A extends the list of autosomal recessive disorders rare among the general population but more frequent among Roma at least in the Czech Republic...
- Human papillomavirus (HPV) profiles of vulvar lesions: possible implications for the classification of vulvar squamous cell carcinoma precursors and for the efficacy of prophylactic HPV vaccinationPetr Skapa
Department of Pathology and Molecular Medicine, Charles University, 2nd Medical School, Faculty Hospital Motol, Prague, Czech Republic
Am J Surg Pathol 31:1834-43. 2007....
- Unexpected sudden death caused by medullary brain lesions involves all age groups and may include 'sudden infant death syndrome' as a subsetJ Howard Jaster
Acta Neuropathol 109:552-3. 2005
- Diagnostic immunohistology of muscle diseasesHannes Vogel
Department of Pathology, Stanford University School of Medicine, Palo Alto, CA 94305, USA
J Neuropathol Exp Neurol 64:181-93. 2005..Three broad categories of muscle diseases will be characterized in terms of diagnostic antibodies in current use: dystrophic, congenital/structural, and inflammatory myopathies...
- Carbonic anhydrase IX expression in clear cell renal cell carcinomas negatively correlates with the proportion of the granular cell componentPetr Skapa
J Clin Oncol 26:3809-11; author reply 3811-2. 2008