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Lista de obras de Sergiusz Jozwiak

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

artículo científico publicado en 2011

Acute fright induces onset of symptoms in vanishing white matter disease-case report

artículo científico publicado en 2006

Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

Apparent diffusion coefficient is increased in children with tuberous sclerosis complex personal experience and review of the literature.

artículo científico publicado en 2007

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

scientific article published on 01 September 2006

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients

artículo científico publicado en 2002

Autism in monogenic disorders

artículo científico publicado en 2011

Brain tumor formation in tuberous sclerosis depends on Erk activation

artículo científico publicado en 2007

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

artículo científico publicado en 2020

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

Cerebellar lesions in children with tuberous sclerosis complex

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

artículo científico publicado en 2000

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

artículo científico publicado en 2019

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

scientific article published on 28 August 2006

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

artículo científico publicado en 2005

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

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

artículo científico publicado en 1998

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

artículo científico publicado en 2014

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence.

artículo científico publicado en 2006

Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene

scientific article published on 01 January 2001

Dietary treatment of epilepsy: rebirth of an ancient treatment.

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

EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex

artículo científico publicado en 2016

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

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

Effects of adjunctive eslicarbazepine acetate on neurocognitive functioning in children with refractory focal-onset seizures

artículo científico publicado en 2018

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.

artículo científico publicado en 2012

Encephalocraniocutaneous lipomatosis.

artículo científico publicado en 2002

Epidermal nevus syndrome and intraspinal hemorrhage.

artículo científico publicado en 2006

Epilepsy in newborns with tuberous sclerosis complex.

artículo científico publicado en 2014

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

artículo científico publicado en 2018

Evaluation of the central nervous system in children with bladder dysfunction with the use of evoked potentials

artículo científico publicado en 2003

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

artículo científico publicado en 2012

Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study

artículo científico publicado en 2014

Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile

artículo científico publicado en 2016

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

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

artículo científico publicado en 2015

Familial occurrence of the LEOPARD syndrome

artículo científico publicado en 1998

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

Giant cells: contradiction to two-hit model of tuber formation?

artículo científico publicado en 2007

Giant cells: contradiction to two-hit model of tuber formation?

scientific article published on 01 August 2005

Giant intracranial aneurysm in a 9-year-old boy with tuberous sclerosis

scientific article published on 14 March 2006

Hepatic hamartoma in tuberous sclerosis

scientific article published on 01 January 1992

High rate of mosaicism in tuberous sclerosis complex

artículo científico publicado en 1999

History of pediatric neurology in Poland.

scientific article published on 15 July 2009

Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1.

artículo científico publicado en 1997

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

article

Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1

artículo científico publicado en 1995

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

artículo científico publicado en 1997

Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis

artículo científico publicado en 2005

Impact of low level laser therapy on skin blood flow

artículo científico publicado en 2016

Incidence of hepatic hamartomas in tuberous sclerosis ⬇️

artículo científico publicado el 1 de noviembre de 1992

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

Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study

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

MEDICAL AND NEURO-ONCOLOGY

artículo científico publicado en 2011

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 (TSC): Clinical recommendations ⬇️

artículo científico publicado el 12 de junio de 2012

Management of side effects of mTOR inhibitors in tuberous sclerosis patients

artículo científico publicado en 2016

Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations.

artículo científico publicado en 2013

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 activity of sirolimus and its possible application in tuberous sclerosis treatment

artículo científico publicado en 2006

Moyamoya disease associated with stenosis of extracranial arteries: a case report and review of the literature

artículo científico publicado en 2005

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

artículo científico publicado en 2005

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

artículo científico publicado en 2001

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

scientific article published on 01 October 2020

Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

artículo científico

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

artículo científico publicado en 2020

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

artículo científico publicado en 2019

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients

artículo científico publicado en 1996

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

Open study evaluating lamotrigine efficacy and safety in add-on treatment and consecutive monotherapy in patients with carbamazepine- or valproate-resistant epilepsy

artículo científico publicado en 2000

Optic pathway gliomas in children with and without neurofibromatosis 1.

artículo científico publicado en 2003

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

artículo científico publicado en 2004

Poor mental development in patients with tuberous sclerosis complex: clinical risk factors

artículo científico publicado en 1998

Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway

artículo científico publicado en 2005

Possible mechanisms of disease development in tuberous sclerosis

artículo científico publicado en 2008

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 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

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

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

scientific article published on 12 March 2008

Prospective clinical trials to investigate clinical and molecular biomarkers.

artículo científico publicado en 2017

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

artículo científico publicado en 2008

Rapidly Progressing Brain Atrophy in a Child With Developmental Regression

scientific article published on 24 November 2018

Recommendations of the Polish Medical Society of Radiology and the Polish Society of Neurology for a protocol concerning routinely used magnetic resonance imaging in patients with multiple sclerosis

scientific article published on 21 October 2020

Recommendations of the Polish Medical Society of Radiology and the Polish Society of Neurology for the routinely used magnetic resonance imaging protocol in patients with multiple sclerosis

artículo científico publicado en 2020

Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene ⬇️

artículo científico publicado el 1 de enero de 1998

Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

artículo científico publicado en 2020

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

artículo científico publicado en 2018

Renal cell carcinoma in tuberous sclerosis complex

artículo científico publicado en 2014

Repurposed molecules for antiepileptogenesis: Missing an opportunity to prevent epilepsy?

artículo científico publicado en 2020

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

artículo científico publicado en 2015

Role of mTOR inhibitors in epilepsy treatment.

artículo científico

SNP identification, haplotype analysis, and parental origin of mutations in TSC2

scientific article published on 07 June 2002

Safety and Tolerability of Adjunctive Eslicarbazepine Acetate in Pediatric Patients (Aged 4-17 Years) With Focal Seizures

scientific article published on 26 December 2019

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 pulmonary hypertension with diffuse smooth muscle proliferation of the lungs

scientific article published on 01 July 1990

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

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

artículo científico publicado en 2006

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance

artículo científico publicado en 1998

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis

artículo científico publicado en 2004

Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012.

artículo científico publicado en 2013

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

Successful antiepileptic drug withdrawal in infants with epilepsy and cytomegalovirus neuroinfection: longitudinal study.

artículo científico publicado en 2009

Successful treatment of a child with fulminant liver failure and coma caused by Amanita phalloides intoxication with albumin dialysis without liver transplantation

artículo científico publicado en 2004

Surgical treatment of intraventricular tumors associated with tuberous sclerosis

artículo científico publicado en 1995

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

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

artículo científico publicado en 2014

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

artículo científico publicado en 2018

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 TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases

artículo científico publicado en 2019

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

artículo científico publicado en 2020

The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.

artículo científico publicado en 2014

The management of multiple sclerosis in children: a European view

artículo científico publicado en 2010

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 Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

scientific article published on 25 October 2019

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

artículo científico publicado en 2007

Treatment of pediatric epilepsy in Poland.

artículo científico publicado en 2015

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients

artículo científico publicado en 2017

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

Tuberin-heterozygous cell line TSC2ang1 as a model for tuberous sclerosis-associated skin lesions.

artículo científico publicado en 2008

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

artículo científico publicado en 2020

Tuberous sclerosis

artículo científico publicado en 2008

Tuberous sclerosis complex

artículo científico publicado en 2016

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

artículo científico publicado en 2015

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

Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients

artículo científico publicado en 2000

WONOEP appraisal: Development of epilepsy biomarkers-What we can learn from our patients?

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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