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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: boltshauser e. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Laser interstitial thermal therapy in pediatric cerebellar epilepsy.
Bicciato G, Gennari AG, Oertel MF, Dünner C, Krayenbühl N, Boltshauser E, Toelle SP, Ramantani G. Bicciato G, et al. Among authors: boltshauser e. Epileptic Disord. 2023 Dec;25(6):880-885. doi: 10.1002/epd2.20149. Epub 2023 Aug 22. Epileptic Disord. 2023. PMID: 37584626
Anatomic Basis of Neurologic Disease.
Boltshauser E. Boltshauser E. Neuropediatrics. 2024 May 22. doi: 10.1055/s-0044-1786715. Online ahead of print. Neuropediatrics. 2024. PMID: 38776977 No abstract available.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: boltshauser e. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
Alves CAPF, Sidpra J, Manteghinejad A, Sudhakar S, Massey FV, Aldinger KA, Haldipur P, Lucato LT, Ferraciolli SF, Teixeira SR, Öztekin Ö, Bhattacharya D, Taranath A, Prabhu SP, Mirsky DM, Andronikou S, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Barkovich MJ, Whitehead MT, Mankad K. Alves CAPF, et al. Among authors: boltshauser e. AJNR Am J Neuroradiol. 2023 Oct;44(10):1201-1207. doi: 10.3174/ajnr.A7967. Epub 2023 Aug 17. AJNR Am J Neuroradiol. 2023. PMID: 37591769
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, Lerman-Sagie T. Gafner M, et al. Among authors: boltshauser e. AJNR Am J Neuroradiol. 2023 Mar;44(3):334-340. doi: 10.3174/ajnr.A7805. Epub 2023 Feb 23. AJNR Am J Neuroradiol. 2023. PMID: 36822823 Free PMC article. Review.
Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D'Abrusco F, Battini R, Romaniello R, D'Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*. Gafner M, et al. Among authors: boltshauser e. Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175354 Free article.
413 results