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A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.
Sci Rep. 2021 Jan 15;11(1):1636. doi: 10.1038/s41598-020-80824-x.
Sci Rep. 2021.
PMID: 33452333
Free PMC article.
Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.
Duran-Trio L, Fernandes-Pires G, Grosse J, Soro-Arnaiz I, Roux-Petronelli C, Binz PA, De Bock K, Cudalbu C, Sandi C, Braissant O.
Duran-Trio L, et al. Among authors: fernandes pires g.
J Inherit Metab Dis. 2022 Mar;45(2):278-291. doi: 10.1002/jimd.12470. Epub 2021 Dec 26.
J Inherit Metab Dis. 2022.
PMID: 34936099
Free PMC article.
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Current and potential new treatment strategies for creatine deficiency syndromes.
Fernandes-Pires G, Braissant O.
Fernandes-Pires G, et al.
Mol Genet Metab. 2022 Jan;135(1):15-26. doi: 10.1016/j.ymgme.2021.12.005. Epub 2021 Dec 17.
Mol Genet Metab. 2022.
PMID: 34972654
Free article.
Review.
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Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency.
Fernandes-Pires G, Azevedo MD, Lanzillo M, Roux-Petronelli C, Binz PA, Cudalbu C, Sandi C, Tenenbaum L, Braissant O.
Fernandes-Pires G, et al.
Mol Ther Methods Clin Dev. 2024 Apr 23;32(2):101251. doi: 10.1016/j.omtm.2024.101251. eCollection 2024 Jun 13.
Mol Ther Methods Clin Dev. 2024.
PMID: 38745894
Free PMC article.
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