Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex

Por Kotulska, Katarzyna, Borkowska, Julita, Mandera, Marek, Roszkowski, Marcin, Jurkiewicz, Elzbieta, Grajkowska, Wiesława, Bilska, Małgorzata, Jóźwiak, Sergiusz
Publicado no Childs Nerv Syst (2014)

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

Por Trelinska, Joanna, Fendler, Wojciech, Dachowska, Iwona, Kotulska, Katarzyna, Jozwiak, Sergiusz, Antosik, Karolina, Gnys, Piotr, Borowiec, Maciej, Mlynarski, Wojciech
Publicado no Orphanet J Rare Dis (2016)

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

Por Tyburczy, Magdalena Ewa, Kotulska, Katarzyna, Pokarowski, Piotr, Mieczkowski, Jakub, Kucharska, Joanna, Grajkowska, Wieslawa, Roszkowski, Maciej, Jozwiak, Sergiusz, Kaminska, Bozena
Publicado em 2010

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

Por Kwiatkowski, David J, Palmer, Michael R, Jozwiak, Sergiusz, Bissler, John, Franz, David, Segal, Scott, Chen, David, Sampson, Julian R
Publicado no Eur J Hum Genet (2015)

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

Por Dabora, Sandra L., Roberts, Penelope, Nieto, Andres, Perez, Ron, Jozwiak, Sergiusz, Franz, David, Bissler, John, Thiele, Elizabeth A., Sims, Katherine, Kwiatkowski, David J.
Publicado em 2002

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

Por Tyburczy, Magdalena E., Jozwiak, Sergiusz, Malinowska, Izabela A., Chekaluk, Yvonne, Pugh, Trevor J., Wu, Chin-Lee, Nussbaum, Robert L., Seepo, Sara, Dzik, Tomasz, Kotulska, Katarzyna, Kwiatkowski, David J.
Publicado no Hum Mol Genet (2015)

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

Por Fogarasi, Andras, De Waele, Liesbeth, Bartalini, Gabriella, Jozwiak, Sergiusz, Laforgia, Nicola, Verhelst, Helene, Petrak, Borivoj, Pedespan, Jean-Michel, Witt, Olaf, Castellana, Ramon, Crippa, Stefania, Gislimberti, Gabriella, Gyorsok, Zsuzsanna
Publicado no BMC Neurol (2016)

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

Por Jozwiak, Sergiusz, Habich, Aleksandra, Kotulska, Katarzyna, Sarnowska, Anna, Kropiwnicki, Tomasz, Janowski, Miroslaw, Jurkiewicz, Elzbieta, Lukomska, Barbara, Kmiec, Tomasz, Walecki, Jerzy, Roszkowski, Marcin, Litwin, Mieczyslaw, Oldak, Tomasz, Boruczkowski, Dariusz, Domanska-Janik, Krystyna
Publicado no Cell Med (2010)

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

Por Dabora, Sandra L., Jozwiak, Sergiusz, Franz, David Neal, Roberts, Penelope S., Nieto, Andres, Chung, Joon, Choy, Yew-Sing, Reeve, Mary Pat, Thiele, Elizabeth, Egelhoff, John C., Kasprzyk-Obara, Jolanta, Domanska-Pakiela, Dorota, Kwiatkowski, David J.
Publicado em 2001

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

Por Franz, David N., Belousova, Elena, Sparagana, Steven, Bebin, E. Martina, Frost, Michael D., Kuperman, Rachel, Witt, Olaf, Kohrman, Michael H., Flamini, J. Robert, Wu, Joyce Y., Curatolo, Paolo, de Vries, Petrus J., Berkowitz, Noah, Niolat, Julie, Jóźwiak, Sergiusz
Publicado no PLoS One (2016)

Renal Cell Carcinoma in Tuberous Sclerosis Complex

Por Yang, Ping, Cornejo, Kristine M., Sadow, Peter M., Cheng, Liang, Wang, Mingsheng, Xiao, Yu, Jiang, Zhong, Oliva, Esther, Jozwiak, Sergiusz, Nussbaum, Robert L., Feldman, Adam S., Paul, Elahna, Thiele, Elizabeth A., Yu, Jane J., Henske, Elizabeth P., Kwiatkowski, David J., Young, Robert H., Wu, Chin-Lee
Publicado em 2014

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

Por Malik, Anna R., Liszewska, Ewa, Skalecka, Agnieszka, Urbanska, Malgorzata, Iyer, Anand M., Swiech, Lukasz J., Perycz, Malgorzata, Parobczak, Kamil, Pietruszka, Patrycja, Zarebska, Malgorzata M., Macias, Matylda, Kotulska, Katarzyna, Borkowska, Julita, Grajkowska, Wieslawa, Tyburczy, Magdalena E., Jozwiak, Sergiusz, Kwiatkowski, David J., Aronica, Eleonora, Jaworski, Jacek
Publicado no Acta Neuropathol Commun (2015)

The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the random...

Por Kingswood, J. Chris, Jozwiak, Sergiusz, Belousova, Elena D., Frost, Michael D., Kuperman, Rachel A., Bebin, E. Martina, Korf, Bruce R., Flamini, J. Robert, Kohrman, Michael H., Sparagana, Steven P., Wu, Joyce Y., Brechenmacher, Thomas, Stein, Karen, Berkowitz, Noah, Bissler, John J., Franz, David N.
Publicado no Nephrol Dial Transplant (2014)

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

Por Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, Kmiec, Tomasz, Jurkiewicz, Elzbieta, Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina, Krajewska-Walasek, Malgorzata, Jozwiak, Sergiusz, Hempel, Maja, Winkelmann, Juliane, Elstner, Matthias, Oexle, Konrad, Klopstock, Thomas, Mueller-Felber, Wolfgang, Gasser, Thomas, Trenkwalder, Claudia, Tiranti, Valeria, Kretzschmar, Hans, Schmitz, Gerd, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger
Publicado em 2011

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

Por 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’Callaghan, Finbar, Zonnenberg, Bernard, Crippa, Stefania, Comis, Silvia, d’Augères, Guillaume Beaure, Belousova, Elena, Carter, Tom, Cottin, Vincent, Dahlin, Maria, Ferreira, José Carlos, Macaya, Alfons, Benedik, Mirjana Perkovic, Sander, Valentin, Youroukos, Sotirios, Castellana, Ramon, Ulker, Bulent, Feucht, Martha
Publicado no Orphanet J Rare Dis (2014)

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

Por Kingswood, John C., d’Augères, Guillaume B., Belousova, Elena, Ferreira, José C., Carter, Tom, Castellana, Ramon, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, de Vries, Petrus J., Feucht, Martha, Fladrowski, Carla, Gislimberti, Gabriella, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O’Callaghan, Finbar, Benedik, Mirjana P., Qin, Jiong, Marques, Ruben, Sander, Valentin, Sauter, Matthias, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.
Publicado no Orphanet J Rare Dis (2017)

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

Por Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora
Publicado no Sci Rep (2017)