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Aguilera-Albesa, Sergio
155  results:
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1

Diverse faces of GNAO1: mild forms in epilepsy and autism:

Ludlam, William Grant ; Soliani, Luca ; Domínguez-Carral, Jana...
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Clonal chromosomal mosaicism and loss of chromosome Y in el..:

Pérez-Jurado, Luis A. ; Cáceres, Alejandro ; Balagué-Dobón, Laura...
Communications Biology.  7 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

L-serine treatment in patients with GRIN-related encephalop..:

Juliá-Palacios, Natalia ; Olivella, Mireia ; Sigatullina Bondarenko, Mariya...
Brain.  147 (2024)  5 - p. 1653-1666 , 2024
Link: https://doi.org/10.1093/..
 
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4

Relationship Between Epileptic Activity and Developmental O..:

Casas-Alba, Dídac ; Aguilar, Anna ; Alonso, Itziar...
Pediatric Neurology.  144 (2023)  - p. 11-15 , 2023
Link: https://doi.org/10.1016/..
 
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5

Clinical and electrophysiological features of SCN8A variant..:

Lyu, Hang ; Boßelmann, Christian M. ; Johannesen, Katrine M....
eBioMedicine.  98 (2023)  - p. 104855 , 2023
Link: https://doi.org/10.1016/..
 
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6

Genetic Heterogeneity Underlying Phenotypes with Early-Onse..:

Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Argente-Escrig, Herminia...
International Journal of Molecular Sciences.  24 (2023)  22 - p. 16400 , 2023
Link: https://doi.org/10.3390/..
 
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7

Untangling adaptive functioning of PMM2-CDG across age and ..:

Epifani, Florencia ; Pujol Serra, Susana María ; Llorens, Marta...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

Novel genes and sex differences in COVID-19 severity:

Cruz, Raquel ; Diz-de Almeida, Silvia ; López de Heredia, Miguel...
Human Molecular Genetics.  31 (2022)  22 - p. 3789-3806 , 2022
Link: https://doi.org/10.1093/..
 
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9

Protein misfolding and clearance in the pathogenesis of a n..:

Martínez-Rubio, Dolores ; Rodríguez-Prieto, Ángela ; Sancho, Paula...
Human Molecular Genetics.  31 (2022)  22 - p. 3897-3913 , 2022
Link: https://doi.org/10.1093/..
 
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10

Epigenetic profiling linked to multisystem inflammatory syn..:

Davalos, Veronica ; García-Prieto, Carlos A. ; Ferrer, Gerardo...
eClinicalMedicine.  50 (2022)  - p. 101515 , 2022
Link: https://doi.org/10.1016/..
 
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11

Biallelic variants in SLC35B2 cause a novel chondrodysplasi..:

Guasto, Alessandra ; Dubail, Johanne ; Aguilera-Albesa, Sergio...
Brain.  145 (2022)  10 - p. 3711-3722 , 2022
Link: https://doi.org/10.1093/..
 
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12

COVID-19 in children with neuromuscular disorders:

Natera-de Benito, Daniel ; Aguilera-Albesa, Sergio ; Costa-Comellas, Laura...
Journal of Neurology.  , 2021
Link: https://doi.org/10.1007/..
 
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13

Epigenome-wide association study of COVID-19 severity with ..:

Castro de Moura, Manuel ; Davalos, Veronica ; Planas-Serra, Laura...
eBioMedicine.  66 (2021)  - p. 103339 , 2021
Link: https://doi.org/10.1016/..
 
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14

Expanding the β-III Spectrin-Associated Phenotypes toward N..:

Sancho, Paula ; Andrés-Bordería, Amparo ; Gorría-Redondo, Nerea...
International Journal of Molecular Sciences.  22 (2021)  5 - p. 2505 , 2021
Link: https://doi.org/10.3390/..
 
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15

SARS-CoV-2–related MIS-C: A key to the viral and genetic ca..:

Sancho-Shimizu, Vanessa ; Brodin, Petter ; Cobat, Aurélie...
Journal of Experimental Medicine.  218 (2021)  6 - p. , 2021
Link: https://doi.org/10.1084/..
 
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