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TSC2
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Tuberous sclerosis
2011 |
Faculty of Medicine in Hradec Králové
publication
Genotype/phenotype correlation in Czech tuberous sclerosis patients
2016 |
Second Faculty of Medicine
publication
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
2020 |
Second Faculty of Medicine
publication
Low-grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity
2023 |
Faculty of Medicine in Pilsen
publication
mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus
2021 |
Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
publication
Tuberous Sclerosis (tsc2+/-) Model Eker Rats Reveals Extensive Neuronal Loss with Microglial Invasion and Vascular Remodeling Related to Brain Neoplasia
2020 |
Central Library of Charles University, Third Faculty of Medicine
publication
Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes
2021 |
Third Faculty of Medicine
publication
What is your diagnosis? Multiple rhabdomyoma of the heart and disorder of neuronal migration in the brain (precursor to cortical tuber) as a part ot the tuberous sclerosis syndrome
2011 |
Second Faculty of Medicine
publication
Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings
2009 |
Central Library of Charles University
publication
TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings
2009 |
Faculty of Medicine in Pilsen
publication
TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings
2009 |
Faculty of Medicine in Pilsen, First Faculty of Medicine
publication
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study
2022 |
Central Library of Charles University
publication
PREDICTORS OF NEUROPSYCHOLOGICAL DYSFUNCTION IN CHILDREN WITH INTRACTABLE EPILEPSY DUE TO TUBEROUS SCLEROSIS
Publication without faculty affiliation
publication
Developmental effects of constitutive mTORC1 hyperactivity and environmental enrichment on structural synaptic plasticity and behaviour in a rat model of autism spectrum disorder
2023 |
Central Library of Charles University, First Faculty of Medicine, Faculty of Science
publication
Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
2012 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model
2022 |
Central Library of Charles University, Third Faculty of Medicine
publication
Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
2012 |
Second Faculty of Medicine
publication
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases
2022 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
High-grade oncocytic tumour (HOT) of kidney in a patient with tuberous sclerosis complex
2019 |
Faculty of Medicine in Pilsen
publication
Fetal heart rhabdomyomatosis: a single-center experience
2021 |
Publication without faculty affiliation
publication
Eosinophilic solid and cystic renal cell carcinoma with melanin pigment - expanding the morphological spectrum
2022 |
Faculty of Medicine in Pilsen
publication
Discovery of Long Non-Coding RNA MALAT1 Amplification in Precancerous Colorectal Lesions
2022 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
publication
Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers
2020 |
Second Faculty of Medicine
publication
Rheb/mTOR/p70s6k Cascade and TFE3 Expression in Conventional and Sclerosing PEComas of the Urinary Tract
2016 |
Faculty of Medicine in Pilsen
publication
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
2017 |
Second Faculty of Medicine
publication
Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study
2018 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Arts
publication
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers III: Molecular Pathology of Kidney Cancer
2020 |
Faculty of Medicine in Pilsen
publication
Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression
2016 |
Second Faculty of Medicine
publication
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas
2020 |
Second Faculty of Medicine