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PEREZ PALMA, EDUARDO ESTEBAN
Preferred name
PEREZ PALMA, EDUARDO ESTEBAN
Main Affiliation
Email
eduardoperez@udd.cl
ORCID
Scopus Author ID
55981322300
Now showing
1 - 10 of 11
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PublicationMolecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants( 2024)
;Nisha Bhattarai ;Ludovica Montanucci ;Bruenger, Tobias ;Martin, William ;Smith, Iris N. ;Cheng, Feixiong ;Charis Eng ;Helbig, Ingo ;Moller, Rikkie S ;Andreas Brunklaus ;Stephanie SchorgeDennis Lal6 -
PublicationStructural mapping of GABRB3 variants reveals genotype–phenotype correlations( 2022)
;Katrine M. Johannesen ;Sumaiya Iqbal ;Milena Guazzi ;Nazanin A. Mohammadi ;Elise Schaefer ;Anne De Saint Martin ;Marie Therese Abiwarde ;Amy McTague ;Roser Pons ;Amelie Piton ;Manju A. Kurian ;Gautam Ambegaonkar ;Helen Firth ;Alba Sanchis-Juan ;Marie Deprez ;Katrien Jansen ;Liesbeth De Waele ;Eva H. Briltra ;Nienke E. Verbeek ;Marjan van Kempen ;Walid Fazeli ;Pasquale Striano ;Federico Zara ;Gerhard Visser ;Hilde M.H. Braakman ;Martin Haeusler ;Miriam Elbracht ;Ulvi Vaher ;Thomas Smol ;Johannes R. Lemke ;Konrad Platzer ;Joanna Kennedy ;Karl Martin Klein ;Ping Yee Billie Au ;Kimberly Smyth ;Julie Kaplan ;Morgan Thomas ;Malin K. Dewenter ;Argirios Dinopoulos ;Arthur J. Campbell ;Dennis Lal ;Damien Lederer ;Vivian W.Y. Liao ;Philip K. Ahring ;Rikke S. MøllerElena GardellaScopus© Citations 12 2 -
PublicationDelineation of functionally essential protein regions for 242 neurodevelopmental genes( 2022)
;Sumaiya Iqbal ;Tobias Brünger ;Marie Macnee ;Andreas Brunklaus ;Mark J Daly ;Arthur J Campbell ;David Hoksza ;Patrick May ;Dennis LalLorena DiazScopus© Citations 3 4 1 -
PublicationConserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes( 2022)
;Tobias Brünger ;Ludovica Montanucci ;Michael Nothnagel ;Rikke S Møller ;Stephanie Schorge ;Sameer Zuberi ;Joseph Symonds ;Johannes R Lemke ;Andreas Brunklaus ;Stephen F Traynelis ;Patrick MayDennis LalScopus© Citations 8 11 1 -
PublicationGRIN Portal: An Interactive Web Application Exploring GRIN Genes and Related Disorders( 2023)
;Kloeckner, Chiara ;Bruenger, Tobias ;Krey, Ilona ;Macnee, Marie ;Myers, Scott J ;Yuan, Hongjie ;Arthur Stefanski ;May, Patrick ;Sargent, Jenifer ;Kristen Park ;Ramsey, Amy J. ;Benke, Tim ;Traynelis, Stephen F ;Dennis LalJohannes Lemke22 -
PublicationGenomic analysis of AlphaFold2-predicted structures identifies maps of 3D essential sites in 243 neurodevelopmental disorder-associated proteins( 2022)
;Sumaiya Iqbal ;Tobias Brünger ;David Hoksza ;Arthur J. Campbell ;Mark J. Daly ;Patrick MayDennis Lal5 -
PublicationData-driven historical characterization of epilepsy-associated genes( 2023)
;Marie Macnee ;Javier A. López-Rivera ;Alina Ivaniuk ;Patrick May ;Rikke S. MøllerDennis LalScopus© Citations 9 1 1 -
PublicationGene variant effects across sodium channelopathies predict function and guide precision therapy( 2022)
;Andreas Brunklaus ;Tony Feng ;Tobias Brünger ;Henrike Heyne ;Emma Matthews ;Christopher Semsarian ;Joseph D Symonds ;Sameer M Zuberi ;Dennis LalStephanie SchorgeScopus© Citations 37 3 1 -
PublicationCopy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders( 2022)
;Lisa-Marie Niestroj ;Miguel Inca-Martínez ;Camilo Villaman ;Dennis LalIgnacio Mata45 1 -
PublicationThe genomic landscape across 474 surgically accessible epileptogenic human brain lesions( 2022)
;Javier A López-Rivera ;Costin Leu ;Marie Macnee ;Jean Khoury ;Lucas Hoffmann ;Roland Coras ;Katja Kobow ;Nisha Bhattarai ;Hajo Hamer ;Sebastian Brandner ;Karl Rössler ;Christian G Bien ;Thilo Kalbhenn ;Tom Pieper ;Till Hartlieb ;Elizabeth Butler ;Giulio Genovese ;Kerstin Becker ;Janine Altmüller ;Lisa-Marie Niestroj ;Lisa Ferguson ;Robyn M Busch ;Peter Nürnberg ;Imad Najm ;Ingmar BlümckeDennis LalScopus© Citations 25 6 1