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Page 1
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: janeiro p. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: janeiro p. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
Recurrent acute kidney injury and rhabdomyolysis: Answers.
Durão F, Valério P, Marques B, Silva RG, Janeiro P, Esteves da Silva JE. Durão F, et al. Among authors: janeiro p. Pediatr Nephrol. 2021 Dec;36(12):4047-4049. doi: 10.1007/s00467-021-05188-4. Epub 2021 Jul 12. Pediatr Nephrol. 2021. PMID: 34251489 No abstract available.
Recurrent acute kidney injury and rhabdomyolysis: Questions.
Durão F, Valério P, Marques B, Silva RG, Janeiro P, Esteves da Silva JE. Durão F, et al. Among authors: janeiro p. Pediatr Nephrol. 2021 Dec;36(12):4045-4046. doi: 10.1007/s00467-021-05170-0. Epub 2021 Jul 12. Pediatr Nephrol. 2021. PMID: 34251490 No abstract available.
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P, Machado C, Janeiro P, Dupont J, Quintas S, Sousa AB, Gaspar A. Lipari Pinto P, et al. Among authors: janeiro p. JIMD Rep. 2020 Apr 10;53(1):2-9. doi: 10.1002/jmd2.12108. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395402 Free PMC article.
30 results