S. Jóźwiak

Corrigendum to "Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy" [Eur. J. Paediatr. Neurol. 47 (2023) 25-34].
20241 citationsauthor #12
Differences between Tuberous Sclerosis Complex Patients with and without Epilepsy: The Results of a Quantitative Diffusion Tensor Imaging Study
20241 citationsauthor #2
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey
20244 citationsauthor #6
Effect of mTOR Inhibitors in Epilepsy Treatment in Children with Tuberous Sclerosis Complex Under 2 Years of Age
202319 citationsauthor #4
Editorial: Viral vector-based gene therapy in neurological disease: The future is now
20231 citationsauthor #3
Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.
202338 citationsauthor #12
Subependymal Giant Cell Astrocytoma Tumors in Patients Without Clinical Manifestation of Tuberous Sclerosis Complex: A Diagnostic Puzzle.
20234 citationsauthor #3
Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management
202314 citationsauthor #7
Subependymal Giant Cell Astrocytoma Tumors in Patients Without Clinical Manifestation of Tuberous Sclerosis Complex: A Diagnostic Puzzle.
20233 citationsauthor #3
Commentary Regarding the Results of the PREVeNT and EPISTOP Trials
20238 citationsauthor #1
Early therapeutic intervention guided by electroencephalography surveillance in infants with tuberous sclerosis complex
20230 citationsauthor #1
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
202310 citationsauthor #36
Epilepsy in Dravet Syndrome—Current and Future Therapeutic Opportunities
202322 citationsauthor #7
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
202324 citationsauthor #11
Safety of Sirolimus in Patients with Tuberous Sclerosis Complex under Two Years of Age—A Bicenter Retrospective Study
202310 citationsauthor #2
Renal cell carcinoma or angiomyolipoma – diagnostic and therapeutic dilemmas in a 17-year-old female patient with tuberous sclerosis complex
20231 citationsauthor #4
Long-term therapeutic effect of eslicarbazepine acetate in children: An open-label extension of a cognition study in children aged 6-16 years.
20228 citationsauthor #2
MO1025: Periostin as a Potential Biomarker of Renal and Arterial Damage in Children with Tuberous Sclerosis Complex
20220 citationsauthor #6
Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population
20229 citationsauthor #2
Photo-Dependent Reflex Seizures—A Scoping Review with Proposal of Classification
20225 citationsauthor #5
Corrigendum to "Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC" [J. Eur. Paediatr. Neurol. 20 (2) (2016) 203-211].
20220 citationsauthor #8
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex
202211 citationsauthor #23
Corrigendum to article 'Prevention of Epileptogenesis - A New Goal for Epilepsy Therapy' Pediatric Neurology, Volume 51, Issue 6, December 2014, Pages 758-759.
20220 citationsauthor #1
Epilepsy and Language Development in 8–36-Month-Old Toddlers with Tuberous Sclerosis Complex
20226 citationsauthor #9
Tuberous sclerosis complex-associated neuropsychiatric disorders.
20226 citationsauthor #3
MO1036: 24-H Central Blood Pressure is Related to Renal Lesions in Children with Tuberous Sclerosis Complex
20220 citationsauthor #4
Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER.
20222 citationsauthor #5
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex
202220 citationsauthor #22
mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex Is Associated with Specific Changes in microRNA Serum Profile
20223 citationsauthor #8
Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period
20225 citationsauthor #23
Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
20220 citationsauthor #16
Newborn screening and gene therapy in SMA: Challenges related to vaccinations
20229 citationsauthor #2
MicroRNA Expression Profile in TSC Cell Lines and the Impact of mTOR Inhibitor
20222 citationsauthor #9
Neonatologia
20220 citationsauthor #15
The Clinical and Epidemiological Profile of Paediatric-Onset Multiple Sclerosis in Poland
20226 citationsauthor #5
Antiepileptic Effect and Safety Profile of Rapamycin in Pediatric Patients With Tuberous Sclerosis Complex
202217 citationsauthor #7
Pediatric-onset multiple sclerosis in Poland: A registry-based retrospective cohort study.
202111 citationsauthor #5
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes
202133 citationsauthor #24
The quantitative effect of blue lenses on pediatric photoparoxysmal response - An electroencephalographic cohort study.
20210 citationsauthor #3
A multistep approach to the genotype-phenotype analysis of polish patients with tuberous sclerosis complex.
20217 citationsauthor #7
Tuberous Sclerosis Complex: Skin and Heart: Pivotal Common and Early Signs
20210 citationsauthor #3
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
202117 citationsauthor #16
Fetal Brain MRI Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
202121 citationsauthor #6
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study
20215 citationsauthor #8
MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
20218 citationsauthor #23
Can we prevent epilepsy? Yes, we can!
20210 citationsauthor #1
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex
20216 citationsauthor #15
Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review
202120 citationsauthor #3
Maintenance Therapy With Everolimus for Subependymal Giant Cell Astrocytoma in Patients With Tuberous Sclerosis – Final Results From the EMINENTS Study
202122 citationsauthor #5
Vigabatrin - new data on indications and safety in paediatric epilepsy.
20218 citationsauthor #5
Early Vascular Aging in Children With Tuberous Sclerosis Complex
20214 citationsauthor #4
New Insights into Red Blood Cell Microcytosis upon mTOR Inhibitor Administration
20213 citationsauthor #6
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
202130 citationsauthor #15
Editorial: Tuberous Sclerosis Complex – Diagnosis and Management
20215 citationsauthor #1
Meeting report: EpiXchange II brings together European epilepsy research projects to discuss latest advances
20211 citationsauthor #3
Treatment of Cardiac Rhabdomyomas with mTOR Inhibitors in Children with Tuberous Sclerosis Complex—A Systematic Review
202146 citationsauthor #3
Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex
20218 citationsauthor #22
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
202130 citationsauthor #15
Antiepileptogenesis and disease modification: Clinical and regulatory issues
202132 citationsauthor #6
Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers
202026 citationsauthor #22
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics
202028 citationsauthor #25
Repurposed molecules for antiepileptogenesis: Missing an opportunity to prevent epilepsy?
202082 citationsauthor #8
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.
20209 citationsauthor #19
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile
202022 citationsauthor #17
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study
202039 citationsauthor #16
Approach to Preventive Epilepsy Treatment in Tuberous Sclerosis Complex and Current Clinical Practice in 23 Countries.
202020 citationsauthor #6
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype
202027 citationsauthor #14
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial
2020212 citationsauthor #25
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
202015 citationsauthor #16
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
202033 citationsauthor #22
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
20201 citationsauthor #19
Reply to Lux et al. Letter.
20200 citationsauthor #1
Oral Findings in Children, Adolescents and Adults with Tuberous Sclerosis Complex.
20202 citationsauthor #6
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
202075 citationsauthor #27
Role of gadolinium-based contrast agents in neurological disorders.
202010 citationsauthor #4
Guillain-Barre syndrome as a paraneoplastic syndrome in a 17-year- old boy
20200 citationsauthor #4
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
20200 citationsauthor #13
University of Groningen Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Bongaarts,
20200 citationsauthor #16
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
202030 citationsauthor #13
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas
202043 citationsauthor #15
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex
2020206 citationsauthor #31
Emerging treatments and therapeutic targets for tuberous sclerosis complex in children
20190 citationsauthor #2
Problems of nephrooncology. Proceedings from the 1st Scientific and Training Conference Nephrooncology 5-6 October 2018, Gdańsk, Poland.
20191 citationsauthor #18
Long-term Outcome of Intravenous Lidocaine in Pediatric Cluster Seizures: A Preliminary Study.
20191 citationsauthor #3
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
201926 citationsauthor #14
Rapidly Progressing Brain Atrophy in a Child With Developmental Regression.
20193 citationsauthor #5
Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy
201921 citationsauthor #5
Preventive Antiepileptic Treatment in Tuberous Sclerosis Complex: Long-Term, Prospective Trial.
201966 citationsauthor #1
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry
201913 citationsauthor #15
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas
201929 citationsauthor #15
Safety and Tolerability of Adjunctive Eslicarbazepine Acetate in Pediatric Patients (Aged 4-17 Years) With Focal Seizures
201911 citationsauthor #5
The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases
20195 citationsauthor #16
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
201937 citationsauthor #15
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report
201952 citationsauthor #8
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study
201963 citationsauthor #23
PRO31 MEDICAL INNOVATION ASSESSMENT AND ECONOMIC BURDEN OF DISEASES ON THE EXAMPLE OF RARE AND COMMON DISEASES IN POLAND
20190 citationsauthor #3
First Results of the EPISTOP Study
20191 citationsauthor #16
[Evaluation of renal lesions in children with tuberous sclerosis - summary of the first year of follow-up program].
20191 citationsauthor #4
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.
20180 citationsauthor #8
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
2018134 citationsauthor #14

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