Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.
Stem Cell Res. 2021 May;53:102338. doi: 10.1016/j.scr.2021.102338. Epub 2021 Apr 15.
Stem Cell Res. 2021.
PMID: 34087982
Free article.
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.
Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR, Fons C; BIO-KCNQ2-Spanish Study Group.
Casas-Alba D, et al.
Pediatr Neurol. 2023 Jul;144:11-15. doi: 10.1016/j.pediatrneurol.2023.03.004. Epub 2023 Mar 9.
Pediatr Neurol. 2023.
PMID: 37099824
Item in Clipboard
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A, Miguez-Cabello F, Juliá-Palacios N, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, García-Cazorla À, Soto D, Olivella M, Altafaj X.
Santos-Gómez A, et al. Among authors: garcia navas d.
Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656.
Int J Mol Sci. 2021.
PMID: 34884460
Free PMC article.
Item in Clipboard
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á.
Juliá-Palacios N, et al. Among authors: garcia navas d.
Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041.
Brain. 2024.
PMID: 38380699
Clinical Trial.
Item in Clipboard
Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome.
Nou-Fontanet L, García-Navas D, Gómez-Martín H, Martorell L, Ortigoza-Escobar JD.
Nou-Fontanet L, et al. Among authors: garcia navas d.
Mov Disord Clin Pract. 2023 Mar 20;10(6):1013-1015. doi: 10.1002/mdc3.13724. eCollection 2023 Jun.
Mov Disord Clin Pract. 2023.
PMID: 37332634
Free PMC article.
No abstract available.
Item in Clipboard
Cite
Cite