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Items: 1 to 50 of 194

1.

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

Jozwiak S, Słowińska M, Borkowska J, Sadowski K, Łojszczyk B, Domańska-Pakieła D, Chmielewski D, Kaczorowska-Frontczak M, Głowacka J, Sijko K, Kotulska K.

Pediatr Neurol. 2019 Jul 23. pii: S0887-8994(19)30601-0. doi: 10.1016/j.pediatrneurol.2019.07.008. [Epub ahead of print]

PMID:
31481332
2.

[Evaluation of renal lesions in children with tuberous sclerosis - summary of the first year of follow-up program].

Skrzypczyk P, Wojciechowska B, Szydło A, Jóźwiak S, Brzewski M, Bombiński P, Jakimów-Kostrzewa A, Dziedzic-Jankowska K, Antonowicz-Zawiślak A, Strzelecka J, Bieniaś B, Pukajło-Marczyk A, Pańczyk-Tomaszewska M.

Pol Merkur Lekarski. 2019 Aug 30;47(278):52-59. Polish.

PMID:
31473752
3.

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

Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC.

Front Neurol. 2019 Aug 2;10:821. doi: 10.3389/fneur.2019.00821. eCollection 2019.

4.

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC.

Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019.

5.

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

Pitkänen A, Henshall DC, Cross JH, Guerrini R, Jozwiak S, Kokaia M, Simonato M, Sisodiya S, Mifsud J.

Epilepsia. 2019 Jul;60(7):1281-1292. doi: 10.1111/epi.16091. Epub 2019 Jun 18. Review.

PMID:
31211425
6.

Prevention of epilepsy in humans - truth or myth? The experience from Sturge-Weber syndrome and Tuberous Sclerosis Complex.

Słowińska M, Golec W, Jóźwiak S.

Neurol Neurochir Pol. 2019;53(3):190-193. doi: 10.5603/PJNNS.a2019.0022. Epub 2019 Jun 5.

PMID:
31166003
7.

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

Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P.

J Clin Med. 2019 Jun 3;8(6). pii: E788. doi: 10.3390/jcm8060788.

8.

Long-term Outcome of Intravenous Lidocaine in Pediatric Cluster Seizures: A Preliminary Study.

Strzelecka J, Słowińska M, Jóźwiak S.

Pediatr Neurol. 2019 Aug;97:43-49. doi: 10.1016/j.pediatrneurol.2019.02.019. Epub 2019 Mar 4.

PMID:
31122834
9.

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

Bączkowska T, Bissler JJ, Błasińska‑Przerwa K, Borawski J, Chudek J, Ciechanowski K, Czarkowska‑Pączek B, Dębska-Ślizień A, Domański M, Durlik M, Gellert R, Gozdowska J, Goździk M, Imko‑Walczuk B, Janiszewski J, Januszko‑Giergielewicz B, Jeśkiewicz M, Jóźwiak S, Kadylak D, Klinger M, Kosieradzki M, Kotulska K, Kozak Ł, Król E, Krzanowska K, Kurnatowska I, Labij‑Reduta B, Lichodziejewska‑Niemierko M, Lizakowski S, Małyszko J, Matuszewski M, Mazurkiewicz J, Mełeń‑Mucha G, Myślak M, Naumnik B, Nowicki M, Oko A, Pączek L, Perkowska-Ptasińska A, Piątak M, Piecha G, Radzikowska E, Renke M, Rutkowska B, Sawosz M, Skutecki R, Słowińska M, Sosińska‑Mielcarek K, Szafran‑Dobrowolska J, Szołkowska M, Szczepulska‑Wójcik E, Szurowska E, Tarasewicz A, Wągrowska‑Danilewicz M, Wołowiec D, Woźniak J, Zawiasa‑Bryszewska A.

Pol Arch Intern Med. 2019 May 2;129(Spec. Issue 2):1-74. doi: 10.20452/pamw.14821. Epub 2019 May 2. No abstract available.

10.

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

Auvin S, Bissler JJ, Cottin V, Fujimoto A, Hofbauer GFL, Jansen AC, Jóźwiak S, Kerecuk L, Kingswood JC, Moavero R, Torra R, Villanueva V.

Orphanet J Rare Dis. 2019 Apr 30;14(1):91. doi: 10.1186/s13023-019-1072-y.

11.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators.

Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar.

12.

Rapidly Progressing Brain Atrophy in a Child With Developmental Regression.

Siedlarska M, Jamsheer A, Ciaston M, Strzelecka J, Jozwiak S.

Pediatr Neurol. 2019 May;94:80-81. doi: 10.1016/j.pediatrneurol.2018.11.009. Epub 2018 Nov 24. No abstract available.

PMID:
30635150
13.

GSK3β activity alleviates epileptogenesis and limits GluA1 phosphorylation.

Urbanska M, Kazmierska-Grebowska P, Kowalczyk T, Caban B, Nader K, Pijet B, Kalita K, Gozdz A, Devijver H, Lechat B, Jaworski T, Grajkowska W, Sadowski K, Jozwiak S, Kotulska K, Konopacki J, Van Leuven F, van Vliet EA, Aronica E, Jaworski J.

EBioMedicine. 2019 Jan;39:377-387. doi: 10.1016/j.ebiom.2018.11.040. Epub 2018 Nov 28.

14.

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.

Kuzniewska B, Sadowski K, Urbanska K, Urbanska M, Kotulska K, Liszewska E, Grajkowska W, Jóźwiak S, Dziembowska M.

Folia Neuropathol. 2018;56(3):167-174. doi: 10.5114/fn.2018.78695.

15.

Current concepts on epilepsy management in tuberous sclerosis complex.

Canevini MP, Kotulska-Jozwiak K, Curatolo P, La Briola F, Peron A, Słowińska M, Strzelecka J, Vignoli A, Jóźwiak S.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):299-308. doi: 10.1002/ajmg.c.31652. Epub 2018 Sep 26. Review.

PMID:
30255982
16.

Benign epilepsy with centrotemporal spikes - Current concepts of diagnosis and treatment.

Dryżałowski P, Jóźwiak S, Franckiewicz M, Strzelecka J.

Neurol Neurochir Pol. 2018 Nov - Dec;52(6):677-689. doi: 10.1016/j.pjnns.2018.08.010. Epub 2018 Sep 7. Review.

PMID:
30219586
17.

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

de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators.

Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8.

18.

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

Strzelecka J, Skadorwa T, Franckiewicz M, Jóźwiak S.

Childs Nerv Syst. 2018 Dec;34(12):2503-2507. doi: 10.1007/s00381-018-3911-x. Epub 2018 Jul 17.

19.

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

Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN; TSCure Research Group.

Eur J Paediatr Neurol. 2018 Nov;22(6):1066-1073. doi: 10.1016/j.ejpn.2018.06.007. Epub 2018 Jul 4.

PMID:
30005812
20.

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

Bongaarts A, Prabowo AS, Arena A, Anink JJ, Reinten RJ, Jansen FE, Spliet WGM, Thom M, Coras R, Blümcke I, Kotulska K, Jozwiak S, Grajkowska W, Söylemezoğlu F, Pimentel J, Schouten-van Meeteren AYN, Mills JD, Iyer AM, van Vliet EA, Mühlebner A, Aronica E.

Oncotarget. 2018 Jun 15;9(46):28103-28115. doi: 10.18632/oncotarget.25563. eCollection 2018 Jun 15.

21.

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

Curatolo P, Nabbout R, Lagae L, Aronica E, Ferreira JC, Feucht M, Hertzberg C, Jansen AC, Jansen F, Kotulska K, Moavero R, O'Callaghan F, Papavasiliou A, Tzadok M, Jóźwiak S.

Eur J Paediatr Neurol. 2018 Sep;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006. Epub 2018 May 24. Review.

PMID:
29880258
22.

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

Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC.

Nephrol Dial Transplant. 2019 Mar 1;34(3):502-508. doi: 10.1093/ndt/gfy063.

23.

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

Jóźwiak S, Veggiotti P, Moreira J, Gama H, Rocha F, Soares-da-Silva P.

Epilepsy Behav. 2018 Apr;81:1-11. doi: 10.1016/j.yebeh.2018.01.029. Epub 2018 Feb 22.

24.

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

Słowińska M, Jóźwiak S, Peron A, Borkowska J, Chmielewski D, Sadowski K, Jurkiewicz E, Vignoli A, La Briola F, Canevini MP, Kotulska-Jóźwiak K.

Orphanet J Rare Dis. 2018 Jan 29;13(1):25. doi: 10.1186/s13023-018-0764-z.

25.

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

Jóźwiak S, Sadowski K, Borkowska J, Domańska-Pakieła D, Chmielewski D, Jurkiewicz E, Jaworski M, Urbańska M, Ogrodnik M, Słowińska M, Kotulska K.

Pediatr Neurol. 2018 Jan;78:20-26. doi: 10.1016/j.pediatrneurol.2017.09.012. Epub 2017 Sep 28.

PMID:
29249553
26.

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

Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E.

Oncotarget. 2017 Sep 8;8(56):95516-95529. doi: 10.18632/oncotarget.20764. eCollection 2017 Nov 10.

27.

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

Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E.

Sci Rep. 2017 Aug 14;7(1):8089. doi: 10.1038/s41598-017-06145-8.

28.

Prospective clinical trials to investigate clinical and molecular biomarkers.

Auvin S, Walker L, Gallentine W, Jozwiak S, Tombini M, Sills GJ.

Epilepsia. 2017 Jul;58 Suppl 3:20-26. doi: 10.1111/epi.13782. Review.

29.

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

Jozwiak S, Becker A, Cepeda C, Engel J Jr, Gnatkovsky V, Huberfeld G, Kaya M, Kobow K, Simonato M, Loeb JA.

Epilepsia. 2017 Jun;58(6):951-961. doi: 10.1111/epi.13728. Epub 2017 Apr 7. Review.

30.

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

Stawiski K, Trelińska J, Baranska D, Dachowska I, Kotulska K, Jóźwiak S, Fendler W, Młynarski W.

MAGMA. 2017 Aug;30(4):397-405. doi: 10.1007/s10334-017-0614-3. Epub 2017 Mar 20.

PMID:
28321524
31.

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

Kingswood JC, d'Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA consortium and TOSCA investigators.

Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5.

32.

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

Trelinska J, Dachowska I, Baranska D, Stawiski K, Kotulska K, Fendler W, Jozwiak S, Mlynarski W.

Pediatr Blood Cancer. 2017 Jun;64(6). doi: 10.1002/pbc.26347. Epub 2016 Nov 15.

PMID:
27860334
33.

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

Trelinska J, Fendler W, Dachowska I, Kotulska K, Jozwiak S, Antosik K, Gnys P, Borowiec M, Mlynarski W.

Orphanet J Rare Dis. 2016 Sep 29;11(1):129.

34.

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

Fogarasi A, De Waele L, Bartalini G, Jozwiak S, Laforgia N, Verhelst H, Petrak B, Pedespan JM, Witt O, Castellana R, Crippa S, Gislimberti G, Gyorsok Z.

BMC Neurol. 2016 Aug 8;16:126. doi: 10.1186/s12883-016-0658-4.

35.

Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile.

Trelińska J, Dachowska I, Kotulska K, Jóźwiak S, Fendler W, Młynarski W.

Pharmacol Rep. 2016 Oct;68(5):1002-7. doi: 10.1016/j.pharep.2016.05.011. Epub 2016 Jul 17.

PMID:
27423526
36.

[Impact of low level laser therapy on skin blood flow].

Podogrodzki J, Lebiedowski M, Szalecki M, Kępa I, Syczewska M, Jóźwiak S.

Dev Period Med. 2016 Jan-Mar;20(1):40-6. Polish.

37.

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

Franz DN, Belousova E, Sparagana S, Bebin EM, Frost MD, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Berkowitz N, Niolat J, Jóźwiak S.

PLoS One. 2016 Jun 28;11(6):e0158476. doi: 10.1371/journal.pone.0158476. eCollection 2016.

38.

Tuberous sclerosis complex.

Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA.

Nat Rev Dis Primers. 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. Review.

PMID:
27226234
39.

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

Jóźwiak S, Sadowski K, Kotulska K, Schwartz RA.

Pediatr Neurol. 2016 Aug;61:21-7. doi: 10.1016/j.pediatrneurol.2016.04.003. Epub 2016 Apr 13. Review.

PMID:
27222056
40.

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

van Scheppingen J, Iyer AM, Prabowo AS, Mühlebner A, Anink JJ, Scholl T, Feucht M, Jansen FE, Spliet WG, Krsek P, Zamecnik J, Buccoliero AM, Giordano F, Genitori L, Kotulska K, Jozwiak S, Jaworski J, Liszewska E, van Vliet EA, Aronica E.

Glia. 2016 Jun;64(6):1066-82. doi: 10.1002/glia.22983. Epub 2016 Mar 25.

PMID:
27014996
41.

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

Curatolo P, Bjørnvold M, Dill PE, Ferreira JC, Feucht M, Hertzberg C, Jansen A, Jóźwiak S, Kingswood JC, Kotulska K, Macaya A, Moavero R, Nabbout R, Zonnenberg BA.

Drugs. 2016 Apr;76(5):551-65. doi: 10.1007/s40265-016-0552-9. Review.

PMID:
26927950
42.

Management of side effects of mTOR inhibitors in tuberous sclerosis patients.

Sadowski K, Kotulska K, Jóźwiak S.

Pharmacol Rep. 2016 Jun;68(3):536-42. doi: 10.1016/j.pharep.2016.01.005. Epub 2016 Jan 22. Review.

PMID:
26891243
43.

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

Jóźwiak S, Kotulska K, Berkowitz N, Brechenmacher T, Franz DN.

J Pediatr. 2016 May;172:151-155.e1. doi: 10.1016/j.jpeds.2016.01.027. Epub 2016 Feb 6.

PMID:
26858193
44.

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

Curatolo P, Aronica E, Jansen A, Jansen F, Kotulska K, Lagae L, Moavero R, Jozwiak S.

Eur J Paediatr Neurol. 2016 Mar;20(2):203-211. doi: 10.1016/j.ejpn.2015.12.005. Epub 2015 Dec 23. Review.

PMID:
26758984
45.

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

Jóźwiak S, Mandera M, Młynarski W.

Semin Pediatr Neurol. 2015 Dec;22(4):274-81. doi: 10.1016/j.spen.2015.10.003. Epub 2015 Oct 21. Review.

PMID:
26706014
46.

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

Kuśmierska K, Szymańska K, Rokicki D, Kotulska K, Jóźwiak S, Sykut-Cegielska J, Mierzewska H, Szczepanik E, Pronicka E, Demkow U.

Adv Exp Med Biol. 2016;878:73-82.

PMID:
26453071
47.

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

Sadowski K, Kotulska K, Schwartz RA, Jóźwiak S.

J Eur Acad Dermatol Venereol. 2016 Apr;30(4):586-94. doi: 10.1111/jdv.13356. Epub 2015 Sep 25. Review.

PMID:
26403211
48.

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.

Malik AR, Liszewska E, Skalecka A, Urbanska M, Iyer AM, Swiech LJ, Perycz M, Parobczak K, Pietruszka P, Zarebska MM, Macias M, Kotulska K, Borkowska J, Grajkowska W, Tyburczy ME, Jozwiak S, Kwiatkowski DJ, Aronica E, Jaworski J.

Acta Neuropathol Commun. 2015 Jul 30;3:48. doi: 10.1186/s40478-015-0225-z.

49.

Role of mTOR inhibitors in epilepsy treatment.

Sadowski K, Kotulska-Jóźwiak K, Jóźwiak S.

Pharmacol Rep. 2015 Jun;67(3):636-46. doi: 10.1016/j.pharep.2014.12.017. Epub 2015 Jan 14. Review.

PMID:
25933981
50.

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

Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR.

Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18.

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