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Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.
Yadak R, Cabrera-Pérez R, Torres-Torronteras J, Bugiani M, Haeck JC, Huston MW, Bogaerts E, Goffart S, Jacobs EH, Stok M, Leonardelli L, Biasco L, Verdijk RM, Bernsen MR, Ruijter G, Martí R, Wagemaker G, van Til NP, de Coo IFM. Yadak R, et al. Among authors: jacobs eh. Mol Ther Methods Clin Dev. 2018 Jan 8;8:152-165. doi: 10.1016/j.omtm.2018.01.001. eCollection 2018 Mar 16. Mol Ther Methods Clin Dev. 2018. PMID: 29687034 Free PMC article.
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature.
Molema F, Williams M, Langendonk J, Darwish-Murad S, van de Wetering J, Jacobs E, Onkenhout W, Brusse E, van der Eerden A, Wagenmakers M. Molema F, et al. JIMD Rep. 2020 Jan 22;51(1):89-104. doi: 10.1002/jmd2.12088. eCollection 2020 Jan. JIMD Rep. 2020. PMID: 32071844 Free PMC article.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Among authors: jacobs eh. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: jacobs eh. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
37 results