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Page 1
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: schoonjans as. Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38678163 Free article.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: schoonjans as. Brain. 2024 Mar 8:awae056. doi: 10.1093/brain/awae056. Online ahead of print. Brain. 2024. PMID: 38456468 Free article.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A. Gallagher D, et al. Among authors: schoonjans as. Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38410936
Functional mobility in children and young adults with Dravet syndrome.
Verheyen K, Wyers L, Lambrecht E, Schoonjans AS, Ceulemans B, van de Walle P, Hallemans A. Verheyen K, et al. Among authors: schoonjans as. Dev Med Child Neurol. 2023 Oct;65(10):1343-1356. doi: 10.1111/dmcn.15561. Epub 2023 Feb 28. Dev Med Child Neurol. 2023. PMID: 36852703
A case report of a novel NTRK gene fusion in pleomorphic xanthoastrocytoma.
Ahmed M, De Praeter M, Verlooy J, Schoonjans AS, Dekeyzer S, Vanden Bossche S, Lammens M, Pauwels P. Ahmed M, et al. Among authors: schoonjans as. Clin Neuropathol. 2022 Sep-Oct;41(5):233-235. doi: 10.5414/NP301455. Clin Neuropathol. 2022. PMID: 35575416 No abstract available.
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Brunklaus A, et al. Among authors: schoonjans as. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. Neurology. 2022. PMID: 35074891 Free PMC article.
Strength measurements in patients with Dravet Syndrome.
Wyers L, Verheyen K, Ceulemans B, Schoonjans AS, Desloovere K, Van de Walle P, Hallemans A. Wyers L, et al. Among authors: schoonjans as. Eur J Paediatr Neurol. 2021 Nov;35:100-110. doi: 10.1016/j.ejpn.2021.10.006. Epub 2021 Oct 15. Eur J Paediatr Neurol. 2021. PMID: 34666230
38 results