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1

Tuberous sclerosis complex

Henske, Elizabeth P., Jóźwiak, Sergiusz, Kingswood, J. Christopher, Sampson, Julian R., Thiele, Elizabeth A.

Journal:

Nature Reviews Disease Primers

Year:

2016

Language:

english

File:

PDF, 4.67 MB

english, 2016

2

Tuberous sclerosis

Paolo Curatolo, Roberta Bombardieri, Sergiusz Jozwiak

Journal:

Year:

2008

Language:

english

File:

PDF, 374 KB

english, 2008

3

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

Jaroslaw Jozwiak, Sergiusz Jozwiak, Tomasz Grzela, Maciej Lazarczyk

Journal:

NeuroMolecular Medicine

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

4

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

Kingswood, John C, Bruzzi, Paolo, Curatolo, Paolo, de Vries, Petrus J, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Nabbout, Rima, Sauter, Matthias, Touraine, Renaud, O’

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.02 MB

english, 2014

5

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

Trelinska, Joanna, Fendler, Wojciech, Dachowska, Iwona, Kotulska, Katarzyna, Jozwiak, Sergiusz, Antosik, Karolina, Gnys, Piotr, Borowiec, Maciej, Mlynarski, Wojciech

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 658 KB

english, 2016

6

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

Słowińska, Monika, Jóźwiak, Sergiusz, Peron, Angela, Borkowska, Julita, Chmielewski, Dariusz, Sadowski, Krzysztof, Jurkiewicz, Elżbieta, Vignoli, Aglaia, La Briola, Francesca, Canevini, Maria Paola, K

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 818 KB

english, 2018

7

A case of symmetric retrograde thromboembolic cerebral infarction in an 8-year-old child due to arterial thoracic outlet syndrome

Strzelecka, Jolanta, Skadorwa, Tymon, Franckiewicz, Milena, Jóźwiak, Sergiusz

Journal:

Child's Nervous System

Year:

2018

Language:

english

File:

PDF, 3.82 MB

english, 2018

8

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Auvin, Stéphane, Bissler, John J., Cottin, Vincent, Fujimoto, Ayataka, Hofbauer, Günther F. L., Jansen, Anna C., Jóźwiak, Sergiusz, Kerecuk, Larissa, Kingswood, J. Christopher, Moavero, Romina, Torra,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 809 KB

2019

9

Molecular activity of sirolimus and its possible application in tuberous sclerosis treatment

Jaroslaw Jozwiak, Sergiusz Jozwiak, Monika Oldak

Journal:

Medicinal Research Reviews

Year:

2006

Language:

english

File:

PDF, 311 KB

english, 2006

10

Familial occurrence of the LEOPARD syndrome

Sergiusz Jóźwiak,, Robert A. Schwartz, Camila Krysicka Janniger, Jacek Zaremba

Journal:

International Journal of Dermatology

Year:

1998

Language:

english

File:

PDF, 943 KB

english, 1998

11

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

Sergiusz Jóźwiak, Katarzyna Kotulska

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 56 KB

english, 2006

12

Brain tumor formation in tuberous sclerosis depends on erk activation

Jaroslaw Jozwiak, Wieslawa Grajkowska, Katarzyna Kotulska, Sergiusz Jozwiak, Wojciech Zalewski, Agnieszka Zajaczkowska, Marcin Roszkowski, Artur Slupianek, Pawel Wlodarski

Journal:

NeuroMolecular Medicine

Year:

2007

Language:

english

File:

PDF, 568 KB

english, 2007

13

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

Elżbieta Jurkiewicz, Sergiusz Jóźwiak

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 68 KB

english, 2006

14

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

Elzbieta Jurkiewicz, Sergiusz Jozwiak, Monika Bekiesinska-Figatowska, Iwona Pakula-Kosciesza, Jerzy Walecki

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 209 KB

english, 2006

15

SNP identification, haplotype analysis, and parental origin of mutations inTSC2

Penelope S. Roberts, Joon Chung, Sergiusz Jozwiak, Sandra L. Dabora, David N. Franz, Elizabeth A. Thiele, David J. Kwiatkowski

Journal:

Year:

2002

Language:

english

File:

PDF, 46 KB

english, 2002

16

Identification of 54 large deletions/duplications inTSC1andTSC2using MLPA, and genotype-phenotype correlations

Piotr Kozlowski, Penelope Roberts, Sandra Dabora, David Franz, John Bissler, Hope Northrup, Kit Sing Au, Ross Lazarus, Dorota Domanska-Pakiela, Katarzyna Kotulska, Sergiusz Jozwiak, David J. Kwiatkows

Journal:

Year:

2007

Language:

english

File:

PDF, 721 KB

english, 2007

17

Encephalocraniocutaneous Lipomatosis

Julita Gawel, Robert A. Schwartz, Sergiusz Józwiak

Journal:

Journal of Cutaneous Medicine and Surgery

Year:

2003

Language:

english

File:

PDF, 104 KB

english, 2003

18

Giant Cells: Contradiction to Two-Hit Model of Tuber Formation?

Jaroslaw Jozwiak, Sergiusz Jozwiak

Journal:

Cellular and Molecular Neurobiology

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

19

Giant Cells: Contradiction to Two-Hit Model of Tuber Formation?

Jaroslaw Jozwiak, Sergiusz Jozwiak

Journal:

Cellular and Molecular Neurobiology

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

20

Tuberous sclerosis complex: tumors and tumorigenesis

Julita Borkowska, Robert A. Schwartz, Katarzyna Kotulska, Sergiusz Jozwiak

Journal:

International Journal of Dermatology

Year:

2011

Language:

english

File:

PDF, 115 KB

english, 2011

21

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

Jacek Rubik, Elżbieta Pietraszek-Jezierska, Andrzej Kamiński, Anna Skarzynska, Sergiusz Jóźwiak, Joanna Pawłowska, Tomasz Drewniak, Sylwester Prokurat, Ryszard Grenda, Piotr Kaliciński

Journal:

Pediatric Transplantation

Year:

2004

Language:

english

File:

PDF, 136 KB

english, 2004

22

Similarity of Balloon Cells in Focal Cortical Dysplasia to Giant Cells in Tuberous Sclerosis

Jaroslaw Jozwiak, Katarzyna Kotulska, Sergiusz Jozwiak

Journal:

Year:

2006

Language:

english

File:

PDF, 235 KB

english, 2006

23

Treatment before Seizures: New Indications for Antiepileptic Therapy in Children with Tuberous Sclerosis Complex

Sergiusz Józwiak, Dorota Domańska-Pakieła, Katarzyna Kotulska, Magdalena Kaczorowska

Journal:

Year:

2007

Language:

english

File:

PDF, 215 KB

english, 2007

24

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

Dorota Dunin-Wasowicz, Jolanta Kasprzyk-Obara, Sergiusz Jóźwiak

Journal:

Year:

2010

Language:

english

File:

PDF, 398 KB

english, 2010

25

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika B. Hartig, Arcangela Iuso, Tobias Haack, Tomasz Kmiec, Elzbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Malgorzata Krajewska-Walasek, Sergiusz Jozwiak, Maja H

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 899 KB

english, 2011

26

Epidermal nevus syndrome and intraspinal hemorrhage

Katarzyna Kotulska, Elżbieta Jurkiewcz, Sergiusz Jóźwiak, Dariusz Kuczyński

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 180 KB

english, 2006

27

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

Jaroslaw Jozwiak, Katarzyna Kotulska, Wieslawa Grajkowska, Sergiusz Jozwiak, Wojciech Zalewski, Monika Oldak, Magdalena Lojek, Kamila Rainko, Radosław Maksym, Maciej Lazarczyk, Piotr Skopinski, Pawel

Journal:

Brain and Development

Year:

2007

Language:

english

File:

PDF, 870 KB

english, 2007

28

E. Steve Roach, Van S. Miller,Editors, ,Neurocutaneous Disorders (2004) Cambridge University Press,Cambridge, UK 0-521-78153-1 356 pages, hardback, £ 120.

Sergiusz Józwiak

Journal:

European Journal of Paediatric Neurology

Year:

2005

Language:

english

File:

PDF, 40 KB

english, 2005

29

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

Agnieszka Madej-Pilarczyk, Tomasz Kmieć, Anna Fidziańska, Joanna Rękawek, Irena Niebrój-Dobosz, Anna Turska-Kmieć, Klaudia Nestorowicz, Sergiusz Jóźwiak, Irena Hausmanowa-Petrusewicz

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 764 KB

english, 2008

30

Autism in monogenic disorders

Katarzyna Kotulska, Sergiusz Jóźwiak

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 117 KB

english, 2011

31

Gene table: Monogenic determined neurocutaneous disorders

Sergiusz Jóźwiak, Katarzyna Kotulska

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 108 KB

english, 2010

32

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

Sergiusz Jóźwiak, Katarzyna Kotulska, Dorota Domańska-Pakieła, Barbara Łojszczyk, Małgorzata Syczewska, Dariusz Chmielewski, Dorota Dunin-Wąsowicz, Tomasz Kmieć, Joanna Szymkiewicz-Dangel, Maria Korna

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 389 KB

english, 2011

33

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

Marta Perek-Polnik, Sergiusz Jóźwiak, Elżbieta Jurkiewicz, Danuta Perek, Katarzyna Kotulska

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 209 KB

english, 2012

34

Human XPMC2H: cDNA Cloning, Mapping to 9q34, Genomic Structure, and Evaluation as TSC1

Jolanta Kwiatkowska, Richard Slomski, Sergiusz Jozwiak, M.Priscilla Short, David J. Kwiatkowski

Journal:

Year:

1997

Language:

english

File:

PDF, 166 KB

english, 1997

35

Cardiac rhabdomyoma in tuberous sclerosis: Hyperactive Erk signaling

Jaroslaw Jozwiak, Mustafa Sahin, Sergiusz Jozwiak, Katarzyna Kotulska, Rafal Ploski, Malgorzata Szperl, Pawel K. Wlodarski

Journal:

International Journal of Cardiology

Year:

2009

Language:

english

File:

PDF, 305 KB

english, 2009

36

Tuberous sclerosis complex: Advances in diagnosis, genetics, and management

Robert A. Schwartz, Geover Fernández, Katarzyna Kotulska, Sergiusz Jóźwiak

Journal:

Journal of the American Academy of Dermatology

Year:

2007

Language:

english

File:

PDF, 589 KB

english, 2007

37

Is it time to use preventative antiepileptic drug in TSC?

Sergiusz Jozwiak, Katarzyna Kotulska

Journal:

Epilepsy & Behavior

Year:

2012

Language:

english

File:

PDF, 103 KB

english, 2012

38

Possible mechanisms of disease development in tuberous sclerosis

Jaroslaw Jozwiak, Sergiusz Jozwiak, Pawel Wlodarski

Journal:

The Lancet Oncology

Year:

2008

Language:

english

File:

PDF, 390 KB

english, 2008

39

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

Sergiusz Jozwiak, Artur Terczynski

Journal:

Year:

2000

Language:

english

File:

PDF, 188 KB

english, 2000

40

High Rate of Mosaicism in Tuberous Sclerosis Complex

Senno Verhoef, Lida Bakker, Anita M.P. Tempelaars, Arjenne L.W. Hesseling-Janssen, Tadeusz Mazurczak, Sergiusz Jozwiak, Alberto Fois, Gabriella Bartalini, Bernard A. Zonnenberg, Anthonie J. van Essen,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

41

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jozwiak, David Neal Franz, Penelope S. Roberts, Andres Nieto, Joon Chung, Yew-Sing Choy, Mary Pat Reeve, Elizabeth Thiele, John C. Egelhoff, Jolanta Kasprzyk-Obara, Dorota D

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 277 KB

english, 2001

42

Association between a High-Expressing Interferon-γ Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients

Sandra L. Dabora, Penelope Roberts, Andres Nieto, Ron Perez, Sergiusz Jozwiak, David Franz, John Bissler, Elizabeth A. Thiele, Katherine Sims, David J. Kwiatkowski

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 154 KB

english, 2002

43

Novel Proteins Regulated by mTOR in Subependymal Giant Cell Astrocytomas of Patients with Tuberous Sclerosis Complex and New Therapeutic Implications

Magdalena Ewa Tyburczy, Katarzyna Kotulska, Piotr Pokarowski, Jakub Mieczkowski, Joanna Kucharska, Wieslawa Grajkowska, Maciej Roszkowski, Sergiusz Jozwiak, Bozena Kaminska

Journal:

The American Journal of Pathology

Year:

2010

Language:

english

File:

PDF, 1.29 MB

english, 2010

44

Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations

Paolo Curatolo, Sergiusz Jóźwiak, Rima Nabbout

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 140 KB

english, 2012

45

Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012

Roth, Jonathan, Roach, E. Steve, Bartels, Ute, Jóźwiak, Sergiusz, Koenig, Mary Kay, Weiner, Howard L., Franz, David N., Wang, Henry Z.

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 726 KB

english, 2013

46

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

Jóźwiak, Sergiusz, Nabbout, Rima, Curatolo, Paolo

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 465 KB

english, 2013

47

New indications for antiepileptic drugs application in infants with tuberous sclerosis complex – prevention of epilepsy

Józwiak, Sergiusz, Domańska-Pakieła, Dorota, Kotulska, Katarzyna, Szymkiewicz-Dangel, Joanna, Dunin-Wąsowicz, Dorota, Jurkiewicz, Elżbieta, Borkowska, Julita, Kuczyński, Dariusz, Respondek-Liberska, M

Journal:

Pharmacological Reports

Year:

2009

Language:

english

File:

PDF, 73 KB

english, 2009

48

Dietary treatment of epilepsy: rebirth of an ancient treatment

Jóźwiak, Sergiusz, Kossoff, Eric H., Kotulska-Jóźwiak, Katarzyna

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2011

Language:

english

File:

PDF, 118 KB

english, 2011

49

Zakażenie wirusem cytomegalii u dzieci i młodzieży z zespołem Guillaina-Barrégo

Dunin-Wąsowicz, Dorota, Jóźwiak, Sergiusz, Dzierżanowska-Fangrat, Katarzyna, Tomaszek, Katarzyna, Borkowska, Julita, Kaczorowska, Magdalena

Journal:

Pediatria Polska

Year:

2009

Language:

polish

File:

PDF, 138 KB

polish, 2009

50

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

Kotulska, Katarzyna, Chmielewski, Dariusz, Borkowska, Julita, Jurkiewicz, Elżbieta, Kuczyński, Dariusz, Kmieć, Tomasz, Łojszczyk, Barbara, Dunin-Wąsowicz, Dorota, Jóźwiak, Sergiusz

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 512 KB

english, 2013

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