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GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: ardern holmes s. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.
Ahlawat S, Fayad LM, Khan MS, Bredella MA, Harris GJ, Evans DG, Farschtschi S, Jacobs MA, Chhabra A, Salamon JM, Wenzel R, Mautner VF, Dombi E, Cai W, Plotkin SR, Blakeley JO; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016. Ahlawat S, et al. Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929. Neurology. 2016. PMID: 27527647 Free PMC article.
Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis.
Fisher MJ, Loguidice M, Gutmann DH, Listernick R, Ferner RE, Ullrich NJ, Packer RJ, Tabori U, Hoffman RO, Ardern-Holmes SL, Hummel TR, Hargrave DR, Bouffet E, Charrow J, Bilaniuk LT, Balcer LJ, Liu GT. Fisher MJ, et al. Neuro Oncol. 2012 Jun;14(6):790-7. doi: 10.1093/neuonc/nos076. Epub 2012 Apr 3. Neuro Oncol. 2012. PMID: 22474213 Free PMC article.
Systemic therapy in neurofibromatosis type 2.
Lim SH, Ardern-Holmes S, McCowage G, de Souza P. Lim SH, et al. Cancer Treat Rev. 2014 Aug;40(7):857-61. doi: 10.1016/j.ctrv.2014.05.004. Epub 2014 May 16. Cancer Treat Rev. 2014. PMID: 24877986 Review.
Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Misra S, Peters G, Barnes E, Ardern-Holmes S, Webster R, Troedson C, Mohammad SS, Gill D, Menezes M, Gupta S, Procopis P, Antony J, Kurian MA, Dale RC. Misra S, et al. Neurol Genet. 2019 Oct 23;5(6):e367. doi: 10.1212/NXG.0000000000000367. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872051 Free PMC article.
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids.
Yan J, Kothur K, Innes EA, Han VX, Jones HF, Patel S, Tsang E, Webster R, Gupta S, Troedson C, Menezes MP, Antony J, Ardern-Holmes S, Tantsis E, Mohammad S, Wienholt L, Pires AS, Heng B, Guillemin GJ, Guller A, Gill D, Bandodkar S, Dale RC. Yan J, et al. Among authors: ardern holmes s. EBioMedicine. 2022 Oct;84:104280. doi: 10.1016/j.ebiom.2022.104280. Epub 2022 Sep 26. EBioMedicine. 2022. PMID: 36174397 Free PMC article.
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