Lista de obras - Katarzyna Kotulska - Dominio Público Uruguay

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

artículo científico publicado en 2013

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

artículo científico publicado en 2014

APP overexpression prevents neuropathic pain and motoneuron death after peripheral nerve injury in mice.

artículo científico publicado en 2009

APP/SOD1 overexpressing mice present reduced neuropathic pain sensitivity

artículo científico publicado en 2011

Aberrantly Expressed RECQL4 Helicase Supports Proliferation and Drug Resistance of Human Glioma Cells and Glioma Stem Cells

artículo científico publicado en 2020

Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

artículo científico publicado en 2016

Add-On Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial

artículo científico publicado en 2020

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

artículo científico publicado en 2016

Air gun impactor--a novel model of graded white matter spinal cord injury in rodents

artículo científico publicado en 2012

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

artículo científico publicado en 2011

Approach to Preventive Epilepsy Treatment in Tuberous Sclerosis Complex and Current Clinical Practice in 23 Countries

scientific article published on 05 November 2020

Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis?

scientific article published on 01 September 2006

Autism in monogenic disorders

artículo científico publicado en 2011

BDNF contributes to animal model neuropathic pain after peripheral nerve transection.

artículo científico publicado en 2007

Bcl-2 deficiency deprives peripheral nerves of neurotrophic activity against injured optic nerve

artículo científico publicado en 2003

Brain lesions in tuberous sclerosis complex. Review.

artículo científico publicado en 2010

Brain tumor formation in tuberous sclerosis depends on Erk activation

artículo científico publicado en 2007

Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling

artículo científico publicado en 2007

Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities

Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities.

artículo científico publicado en 2007

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

artículo científico publicado en 2011

Childhood pineal parenchymal tumors: clinical and therapeutic aspects

scientific article published on 01 April 2010

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex

scientific article published on 28 August 2006

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

artículo científico publicado en 2017

Complications of mammalian target of rapamycin inhibitor anticancer treatment among patients with tuberous sclerosis complex are common and occasionally life-threatening

artículo científico publicado en 2015

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

artículo científico publicado en 2014

Current concepts on epilepsy management in tuberous sclerosis complex

scientific article published on 26 September 2018

Dietary treatment of epilepsy: rebirth of an ancient treatment.

artículo científico publicado en 2011

Distinct roles of CSF family cytokines in macrophage infiltration and activation in glioma progression and injury response

artículo científico publicado en 2013

Do peripheral nerve extracts protect retinal ganglion cells from axotomy-induced death?

artículo científico publicado en 2004

Down-regulation of IKKβ expression in glioma-infiltrating microglia/macrophages is associated with defective inflammatory/immune gene responses in glioblastoma.

artículo científico publicado en 2015

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

scientific article published on 15 January 2022

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

artículo científico publicado en 2011

Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro

artículo científico publicado en 2020

EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - a prospective study of 5 patients.

artículo científico publicado en 2013

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

scientific article published on 03 June 2019

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

artículo científico publicado en 2018

Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC.

artículo científico publicado en 2015

Effect of oblique nerve grafting on peripheral nerve regeneration in rats

artículo científico publicado en 2006

Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex.

artículo científico publicado en 2011

Epidermal nevus syndrome and intraspinal hemorrhage.

artículo científico publicado en 2006

Epilepsy in newborns with tuberous sclerosis complex.

artículo científico publicado en 2014

Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.

artículo científico publicado en 2012

Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile

artículo científico publicado en 2016

Exploring Novel Therapeutic Opportunities for Glioblastoma Using Patient-Derived Cell Cultures ⬇️

Expression of Bcl-2 and Bax protein in normal pineal gland in children and young adult.

artículo científico publicado en 2006

Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures

artículo científico publicado en 2016

Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type.

artículo científico publicado en 2008

Extracts obtained from predegenerated nerves improve functional recovery after sciatic nerve transection

artículo científico publicado en 2005

Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis.

artículo científico publicado en 2015

Fibroblasts from normal skin of a tuberous sclerosis patient show upregulation of mTOR pathway.

artículo científico publicado en 2009

GSK3β activity alleviates epileptogenesis and limits GluA1 phosphorylation

Gene table: monogenic determined neurocutaneous disorders.

artículo científico publicado en 2010

Germinoma Mimicking Brain Inflammation: A Case Report

artículo científico publicado en 2019

Hypothalamic papillary tumor in a patient with tuberous sclerosis

artículo científico publicado en 2008

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

article

Impaired regeneration of bcl-2-lacking peripheral nerves

scientific article published on 01 December 2005

Influence of nerve growth factor upon the injured peripheral nerve in the absence of its distal part.

artículo científico publicado en 2004

Interleukin-1β increases release of endothelin-1 and tumor necrosis factor as well as reactive oxygen species by peripheral leukocytes during experimental subarachnoid hemorrhage.

artículo científico publicado en 2012

Intracerebroventricular Transplantation of Cord Blood-Derived Neural Progenitors in a Child With Severe Global Brain Ischemic Injury

artículo científico publicado en 2010

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

scientific article published on 23 July 2020

Is it time to use preventative antiepileptic drug in TSC? ⬇️

artículo científico publicado el 17 de febrero de 2012

Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.

artículo científico publicado en 2017

Long-term High Fat Ketogenic Diet Promotes Renal Tumor Growth in a Rat Model of Tuberous Sclerosis

artículo científico publicado en 2016

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

artículo científico publicado en 2013

MR venography in children and adolescents with multiple sclerosis does not show increased prevalence of extracranial veins anomalies.

artículo científico publicado en 2013

Magnetic Resonance Characteristics of Baló Concentric Sclerosis in Children

artículo científico publicado en 2021

Maintenance therapy with everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis (the EMINENTS study).

artículo científico publicado en 2016

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations

artículo científico publicado en 2018

Management of side effects of mTOR inhibitors in tuberous sclerosis patients

artículo científico publicado en 2016

Mapping chromatin accessibility and active regulatory elements reveals pathological mechanisms in human gliomas

artículo científico publicado en 2021

Melatonin secretion profile after experimental pineal gland compression in rats.

artículo científico publicado en 2003

MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

artículo científico publicado en 2021

MicroRNA519d and microRNA4758 can identify gangliogliomas from dysembryoplastic neuroepithelial tumours and astrocytomas.

artículo científico publicado en 2018

Modifying genetic epilepsies - Results from studies on tuberous sclerosis complex

scientific article published on 06 December 2019

Molecular neurobiology of mTOR

artículo científico publicado en 2017

Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.

artículo científico publicado en 2005

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers

scientific article published on 01 October 2020

Neuroimaging of multiple sclerosis in children

artículo científico publicado en 2011

Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications

artículo científico publicado en 2010

Overexpression of copper/zinc-superoxide dismutase in transgenic mice markedly impairs regeneration and increases development of neuropathic pain after sciatic nerve injury

scientific article published on 01 October 2006

Papillary pineocytoma in child: a case report

artículo científico publicado en 2007

Papillary thyroid carcinoma in a boy with familial tuberous sclerosis complex attributable to a TSC2 deletion-a case report.

artículo científico publicado en 2017

Paraganglioma of the cauda equina presenting with erectile and sphincter dysfunction

scientific article published on 01 June 2009

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

artículo científico publicado en 2004

Polymer hollow fiber-encapsulated peripheral nerve extracts change their activity towards injured hippocampal neurites in rats

scientific article published on 01 September 2007

Possible prevention of tuberous sclerosis complex lesions

artículo científico publicado en 2013

Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics

scientific article published on 16 October 2020

Prevention and management of painful neuroma

artículo científico publicado en 2006

Prevention of epilepsy in infants with Tuberous Sclerosis Complex in the EPISTOP trial

artículo científico publicado en 2020

Prevention of epileptogenesis--a new goal for epilepsy therapy

artículo científico publicado en 2014

Prevention of painful neuromas by oblique transection of peripheral nerves

scientific article published on 01 February 2006

Preventive Antiepileptic Treatment in Tuberous Sclerosis Complex: A Long-Term, Prospective Trial

scientific article published on 23 July 2019

Problems of nephrooncology. Proceedings from the 1st Scientific and Training Conference Nephrooncology 5-6 October 2018, Gdańsk, Poland.

artículo científico publicado en 2019

Quantitative and qualitative analysis of proteins in rat peripheral nerves predegenerated for 7 days

scientific article published on 01 November 2006

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy

artículo científico publicado en 2021

Reduction of post-traumatic neuroma and epineural scar formation in rat sciatic nerve by application of microcrystallic chitosan

artículo científico publicado en 2011

Regeneration of sciatic nerves of adult rats induced by extracts from distal stumps of pre-degenerated peripheral nerves

artículo científico publicado en 2003

Reply to Lux et al. Letter

artículo científico publicado en 2020

Report on the Round Table Conference on Medical Care Management of Patients with Neurocutaneous Syndromes.

artículo científico publicado en 2005

Role of mTOR inhibitors in epilepsy treatment.

artículo científico

Safety of Everolimus in Patients Younger than 3 Years of Age: Results from EXIST-1, a Randomized, Controlled Clinical Trial.

artículo científico publicado en 2016

Severe central and peripheral paraneoplastic demyelination associated with tumours of the ovaries

artículo científico publicado en 2015

Similarity of balloon cells in focal cortical dysplasia to giant cells in tuberous sclerosis

artículo científico publicado en 2006

Spinal cord lesions in children and adolescents with multiple sclerosis - Magnetic resonance imaging.

artículo científico publicado en 2016

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

artículo científico publicado en 2020

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations

artículo científico publicado en 2017

Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.

artículo científico publicado en 2011

Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients.

artículo científico publicado en 2013

Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review

artículo científico

TBIO-14. SUBEPENDYMAL GIANT CELL ASTROCYTOMA (SEGA) - A CLINICAL, HISTOPATHOLOGICAL AND MOLECULAR STUDY

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

artículo científico publicado en 2020

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions.

artículo científico publicado en 2016

The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas

artículo científico publicado en 2020

The influence of trkB deficiency on long-term outcome of peripheral nerve injury in mice.

artículo científico publicado en 2007

The level of microRNA 21 is upregulated by rapamycin in serum of tuberous sclerosis complex patients and subependymal giant cell astrocytoma (SEGA)-derived cell cultures

artículo científico publicado en 2018

The role of melatonin in the neurodegenerative diseases.

artículo científico publicado en 2005

The role of trkB receptor in the formation of post-traumatic neuroma.

artículo científico publicado en 2006

Topical Use of Mammalian Target of Rapamycin (mTOR) Inhibitors in Tuberous Sclerosis Complex-A Comprehensive Review of the Literature

artículo científico publicado en 2016

Treatment before seizures: new indications for antiepileptic therapy in children with tuberous sclerosis complex

artículo científico publicado en 2007

TrkB deficiency increases survival and regeneration of spinal motoneurons after axotomy in mice.

artículo científico publicado en 2006

Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis.

artículo científico publicado en 2004

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

artículo científico publicado en 2015

Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches.

artículo científico publicado en 2016

Tuberous sclerosis complex: advances in diagnosis, genetics, and management.

artículo científico publicado en 2007

Tuberous sclerosis complex: tumors and tumorigenesis.

scientific article published on January 2011

Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomas.

artículo científico publicado en 2006

What are the true volumes of SEGA tumors? Reliability of planimetric and popular semi-automated image segmentation methods

artículo científico publicado en 2017

[Current opinions on the pathogenesis of demyelinating diseases. Part II]

scientific article published on 01 November 2003

Lista de obras de Katarzyna Kotulska

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

APP overexpression prevents neuropathic pain and motoneuron death after peripheral nerve injury in mice.

APP/SOD1 overexpressing mice present reduced neuropathic pain sensitivity

Aberrantly Expressed RECQL4 Helicase Supports Proliferation and Drug Resistance of Human Glioma Cells and Glioma Stem Cells

Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

Add-On Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

Air gun impactor--a novel model of graded white matter spinal cord injury in rodents

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

Approach to Preventive Epilepsy Treatment in Tuberous Sclerosis Complex and Current Clinical Practice in 23 Countries

Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis?

Autism in monogenic disorders

BDNF contributes to animal model neuropathic pain after peripheral nerve transection.

Bcl-2 deficiency deprives peripheral nerves of neurotrophic activity against injured optic nerve

Brain lesions in tuberous sclerosis complex. Review.

Brain tumor formation in tuberous sclerosis depends on Erk activation

Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling

Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities

Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities.

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

Childhood pineal parenchymal tumors: clinical and therapeutic aspects

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Complications of mammalian target of rapamycin inhibitor anticancer treatment among patients with tuberous sclerosis complex are common and occasionally life-threatening

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

Current concepts on epilepsy management in tuberous sclerosis complex

Dietary treatment of epilepsy: rebirth of an ancient treatment.

Distinct roles of CSF family cytokines in macrophage infiltration and activation in glioma progression and injury response

Do peripheral nerve extracts protect retinal ganglion cells from axotomy-induced death?

Down-regulation of IKKβ expression in glioma-infiltrating microglia/macrophages is associated with defective inflammatory/immune gene responses in glioblastoma.

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro

EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - a prospective study of 5 patients.

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC.

Effect of oblique nerve grafting on peripheral nerve regeneration in rats

Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex.

Epidermal nevus syndrome and intraspinal hemorrhage.

Epilepsy in newborns with tuberous sclerosis complex.

Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.

Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile

Exploring Novel Therapeutic Opportunities for Glioblastoma Using Patient-Derived Cell Cultures ⬇️

Expression of Bcl-2 and Bax protein in normal pineal gland in children and young adult.

Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures

Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type.

Extracts obtained from predegenerated nerves improve functional recovery after sciatic nerve transection

Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis.

Fibroblasts from normal skin of a tuberous sclerosis patient show upregulation of mTOR pathway.

GSK3β activity alleviates epileptogenesis and limits GluA1 phosphorylation

Gene table: monogenic determined neurocutaneous disorders.

Germinoma Mimicking Brain Inflammation: A Case Report

Hypothalamic papillary tumor in a patient with tuberous sclerosis

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

Impaired regeneration of bcl-2-lacking peripheral nerves

Influence of nerve growth factor upon the injured peripheral nerve in the absence of its distal part.

Interleukin-1β increases release of endothelin-1 and tumor necrosis factor as well as reactive oxygen species by peripheral leukocytes during experimental subarachnoid hemorrhage.

Intracerebroventricular Transplantation of Cord Blood-Derived Neural Progenitors in a Child With Severe Global Brain Ischemic Injury

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

Is it time to use preventative antiepileptic drug in TSC? ⬇️

Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.

Long-term High Fat Ketogenic Diet Promotes Renal Tumor Growth in a Rat Model of Tuberous Sclerosis

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

MR venography in children and adolescents with multiple sclerosis does not show increased prevalence of extracranial veins anomalies.

Magnetic Resonance Characteristics of Baló Concentric Sclerosis in Children

Maintenance therapy with everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis (the EMINENTS study).

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations

Management of side effects of mTOR inhibitors in tuberous sclerosis patients

Mapping chromatin accessibility and active regulatory elements reveals pathological mechanisms in human gliomas

Melatonin secretion profile after experimental pineal gland compression in rats.

MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

MicroRNA519d and microRNA4758 can identify gangliogliomas from dysembryoplastic neuroepithelial tumours and astrocytomas.

Modifying genetic epilepsies - Results from studies on tuberous sclerosis complex

Molecular neurobiology of mTOR

Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers

Neuroimaging of multiple sclerosis in children