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Year Number of Results
2010 3
2011 5
2012 1
2013 1
2014 3
2015 2
2016 1
2017 1
2018 3
2019 7
2020 10
2021 10
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43 results
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Page 1
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. Curatolo P, et al. Among authors: hertzberg c. Eur J Paediatr Neurol. 2018 Sep;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006. Epub 2018 May 24. Eur J Paediatr Neurol. 2018. PMID: 29880258 Review.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Among authors: hertzberg c. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Among authors: hertzberg c. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992
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. Nabbout R, et al. Among authors: hertzberg c. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868117 Free PMC article.
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. de Vries PJ, et al. Among authors: hertzberg c. Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8. Orphanet J Rare Dis. 2018. PMID: 30201051 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members, Kwiatkowski DJ. Ogórek B, et al. Among authors: hertzberg c. Genet Med. 2020 Sep;22(9):1489-1497. doi: 10.1038/s41436-020-0823-4. Epub 2020 May 28. Genet Med. 2020. PMID: 32461669
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, 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, Jansen AC; TOSCA Investigators. de Vries PJ, et al. Among authors: hertzberg c. Front Neurol. 2020 Jul 7;11:603. doi: 10.3389/fneur.2020.00603. eCollection 2020. Front Neurol. 2020. PMID: 32733359 Free PMC article.
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beure d'Augères G, 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, Jansen AC; TOSCA Consortium and TOSCA Investigators. de Vries PJ, et al. Among authors: hertzberg c. J Neurodev Disord. 2020 Sep 1;12(1):24. doi: 10.1186/s11689-020-09327-0. J Neurodev Disord. 2020. PMID: 32873244 Free PMC article.
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