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Page 1
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM. Guelbert N, et al. Among authors: troncoso schifferli m. Mol Genet Metab Rep. 2024 Feb 1;38:101060. doi: 10.1016/j.ymgmr.2024.101060. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469103 Free PMC article.
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.
Pringsheim T, Batla A, Shalash A, Sahu JK, Cosentino C, Ebrahimi-Fakhari D, Friedman J, Lin JP, Mink J, Munchau A, Munoz D, Nardocci N, Perez-Dueñas B, Sardar Z, Triki C, Ben-Pazi H, Silveira-Moriyama L, Troncoso-Schifferli M, Hoshino K, Dale RC, Fung VSC, Kurian MA, Roze E. Pringsheim T, et al. Among authors: troncoso schifferli m. Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May. Mov Disord Clin Pract. 2023. PMID: 37205244 Free PMC article. Review.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, García-Cazorla À, Pías-Peleteiro L, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch R, Pérez B. Sánchez-Lijarcio O, et al. Among authors: troncoso schifferli m. Clin Genet. 2022 Jul;102(1):40-55. doi: 10.1111/cge.14138. Epub 2022 Apr 15. Clin Genet. 2022. PMID: 35388452 Free PMC article.
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Mencacci NE, Steel D, Magrinelli F, Hsu J, Keller Sarmiento IJ, Troncoso Schifferli M, Muñoz D, Stefanis L, Lubbe SJ, Wood NW, Kurian MA, Stamelou M. Mencacci NE, et al. Among authors: troncoso schifferli m. Mov Disord. 2021 Jun;36(6):1472-1473. doi: 10.1002/mds.28634. Mov Disord. 2021. PMID: 34145635 No abstract available.