Works by Aguilera-Albesa, Sergio

Results: 15

T2 hyperintense signal of the central tegmental tracts in children: disease or normal maturational process?

Published in:

Neuroradiology, 2012, v. 54, n. 8, p. 863, doi. 10.1007/s00234-012-1006-z

By:

Aguilera-Albesa, Sergio;
Poretti, Andrea;
Honnef, Dagmar;
Aktas, Meral;
Yoldi-Petri, Maria;
Huisman, Thierry;
Häusler, Martin

Publication type:

Article

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-024-07314-y

By:

Cabrera-Alarcon, José Luis;
Cruz, Raquel;
Rosa-Moreno, Marina;
Latorre-Pellicer, Ana;
de Almeida, Silvia Diz;
Abellán, Javier;
Acosta-Isaac, René;
Aguado, Jose María;
Aguilar, Carlos;
Aguilera-Albesa, Sergio;
Sabbagh, Abdolah Ahmadi;
Alba, Jorge;
Albu, Sergiu;
Alcalá-Gallardo, Karla A. M.;
Alcoba-Florez, Julia;
Batres, Sergio Alcolea;
Algarin-Lara, Holmes Rafael;
Almadana, Virginia;
Medeiros, Kelliane A.;
Almeida, Julia

Publication type:

Article

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

Published in:

2017

By:

Darling, Alejandra;
Tello, Cristina;
Martí, María Josep;
Garrido, Cristina;
Aguilera ‐ Albesa, Sergio;
Tomás Vila, Miguel;
Gastón, Itziar;
Madruga, Marcos;
González Gutiérrez, Luis;
Ramos Lizana, Julio;
Pujol, Montserrat;
Gavilán Iglesias, Tania;
Tustin, Kylee;
Lin, Jean Pierre;
Zorzi, Giovanna;
Nardocci, Nardo;
Martorell, Loreto;
Lorenzo Sanz, Gustavo;
Gutiérrez, Fuencisla;
García, Pedro J.

Publication type:

journal article

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Published in:

2019

By:

Pant, Devesh C;
Dorboz, Imen;
Schlüter, Agatha;
Fourcade, Stéphane;
Launay, Nathalie;
Joya, Javier;
Aguilera-Albesa, Sergio;
Yoldi, Maria Eugenia;
Casasnovas, Carlos;
Willis, Mary J;
Ruiz, Montserrat;
Ville, Dorothée;
Lesca, Gaetan;
Siquier-Pernet, Karine;
Desguerre, Isabelle;
Yan, Huifang;
Wang, Jinming;
Burmeister, Margit;
Brady, Lauren;
Tarnopolsky, Mark

Publication type:

journal article

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16400, doi. 10.3390/ijms242216400

By:

Martínez-Rubio, Dolores;
Hinarejos, Isabel;
Argente-Escrig, Herminia;
Marco-Marín, Clara;
Lozano, María Ana;
Gorría-Redondo, Nerea;
Lupo, Vincenzo;
Martí-Carrera, Itxaso;
Miranda, Concepción;
Vázquez-López, María;
García-Pérez, Asunción;
Marco-Hernández, Ana Victoria;
Tomás-Vila, Miguel;
Aguilera-Albesa, Sergio;
Espinós, Carmen

Publication type:

Article

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2505, doi. 10.3390/ijms22052505

By:

Sancho, Paula;
Andrés-Bordería, Amparo;
Gorría-Redondo, Nerea;
Llano, Katia;
Martínez-Rubio, Dolores;
Yoldi-Petri, María Eugenia;
Blumkin, Luba;
Rodríguez de la Fuente, Pablo;
Gil-Ortiz, Fernando;
Fernández-Murga, Leonor;
Sánchez-Monteagudo, Ana;
Lupo, Vincenzo;
Pérez-Dueñas, Belén;
Espinós, Carmen;
Aguilera-Albesa, Sergio;
Lazzarino, Giuseppe

Publication type:

Article

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

Published in:

Journal of Neurology, 2024, v. 271, n. 7, p. 3777, doi. 10.1007/s00415-024-12418-w

By:

Ludlam, William Grant;
Soliani, Luca;
Domínguez-Carral, Jana;
Cordelli, Duccio Maria;
Marchiani, Valentina;
Gorría-Redondo, Nerea;
Aguilera-Albesa, Sergio;
Martemyanov, Kirill A.;
Ortigoza-Escobar, Juan Darío

Publication type:

Article

COVID-19 in children with neuromuscular disorders.

Published in:

Journal of Neurology, 2021, v. 268, n. 9, p. 3081, doi. 10.1007/s00415-020-10339-y

By:

Natera-de Benito, Daniel;
Aguilera-Albesa, Sergio;
Costa-Comellas, Laura;
García-Romero, Mar;
Miranda-Herrero, María Concepción;
Rúbies Olives, Júlia;
García-Campos, Óscar;
Martínez del Val, Elena;
Martinez Garcia, Maria Josefa;
Medina Martínez, Inmaculada;
Cancho-Candela, Ramón;
Fernandez-Garcia, Miguel A.;
Pascual-Pascual, Samuel Ignacio;
Gómez-Andrés, David;
Nascimento, Andres;
Neuromuscular Working Group of Spanish Pediatric Neurology Society;
Camacho, Ana;
Ortez, Carlos;
Madruga, Marcos;
Munell, Francina

Publication type:

Article

HLA‐A11:01 and HLA‐C04:01 are associated with severe COVID‐19.

Published in:

HLA: Immune Response Genetics, 2023, v. 102, n. 6, p. 731, doi. 10.1111/tan.15160

By:

Castro‐Santos, Patricia;
Rojas‐Martinez, Augusto;
Riancho, José A.;
Lapunzina, Pablo;
Flores, Carlos;
Carracedo, Ángel;
Díaz‐Peña, Roberto;
Abellan, Javier;
Acosta‐Isaac, René;
Aguado, Jose María;
Aguilar, Carlos;
Aguilera‐Albesa, Sergio;
Sabbagh, Abdolah Ahmadi;
Alba, Jorge;
Albu, Sergiu;
Alcalá‐Gallardo, Karla A. M.;
Alcoba‐Florez, Julia;
Batres, Sergio Alcolea;
Algarin‐Lara, Holmes Rafael;
Almadana, Virginia

Publication type:

Article

SARS-CoV-2 infection in children requiring hospitalization: the experience of Navarra, Spain.

Published in:

World Journal of Pediatrics, 2020, v. 16, n. 6, p. 614, doi. 10.1007/s12519-020-00393-x

By:

Moreno-Galarraga, Laura;
Urretavizcaya-Martínez, María;
Alegría Echauri, Josune;
García Howard, Marcos;
Ruperez García, Eva;
Aguilera-Albesa, Sergio;
Alzina de Aguilar, Valentín;
Herranz Aguirre, Mercedes

Publication type:

Article

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288

By:

Marti‐Sanchez, Laura;
Baide‐Mairena, Heidy;
Marcé‐Grau, Anna;
Pons, Roser;
Skouma, Anastasia;
López‐Laso, Eduardo;
Sigatullina, Maria;
Rizzo, Cristiano;
Semeraro, Michela;
Martinelli, Diego;
Carrozzo, Rosalba;
Dionisi‐Vici, Carlo;
González‐Gutiérrez‐Solana, Luis;
Correa‐Vela, Marta;
Ortigoza‐Escobar, Juan Dario;
Sánchez‐Montañez, Ángel;
Vazquez, Élida;
Delgado, Ignacio;
Aguilera‐Albesa, Sergio;
Yoldi, María Eugenia

Publication type:

Article

L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1653, doi. 10.1093/brain/awae041

By:

Juliá-Palacios, Natalia;
Olivella, Mireia;
Bondarenko, Mariya Sigatullina;
Ibáñez-Micó, Salvador;
Muñoz-Cabello, Beatriz;
Alonso-Luengo, Olga;
Soto-Insuga, Víctor;
García-Navas, Deyanira;
Cuesta-Herraiz, Laura;
Andreo-Lillo, Patricia;
Aguilera-Albesa, Sergio;
Hedrera-Fernández, Antonio;
Alguacil, Elena González;
Sánchez-Carpintero, Rocío;
Valle, Fernando Martín del;
González, Erika Jiménez;
Cabrera, Lourdes Cean;
Medina-Rivera, Ines;
Perez-Ordoñez, Marta;
Colomé, Roser

Publication type:

Article

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Published in:

2022

By:

Guasto, Alessandra;
Dubail, Johanne;
Aguilera-Albesa, Sergio;
Paganini, Chiara;
Vanhulle, Catherine;
Haouari, Walid;
Gorría-Redondo, Nerea;
Aznal-Sainz, Elena;
Boddaert, Nathalie;
Planas-Serra, Laura;
Schlüter, Agatha;
Vélez-Santamaría, Valentina;
Verdura, Edgard;
Bruneel, Arnaud;
Rossi, Antonio;
Huber, Céline;
Pujol, Aurora;
Cormier-Daire, Valérie

Publication type:

journal article

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00041

By:

Aguilera-Albesa, Sergio;
de la Hoz, Ana Belén;
Ibarluzea, Nekane;
Ordóñez-Castillo, Andrés R.;
Busto-Crespo, Olivia;
Villate, Olatz;
Ibiricu-Yanguas, María Asunción;
Yoldi-Petri, María E.;
García de Gurtubay, Iñaki;
Perez de Nanclares, Guiomar;
Pereda, Arrate;
Tejada, María Isabel

Publication type:

Article

Anti-Basal Ganglia Antibodies and Streptococcal Infection in ADHD.

Published in:

2018

By:

Aguilera-Albesa, Sergio;
Crespo-Eguílaz, Nerea;
Del Pozo, José Luis;
Villoslada, Pablo;
Sánchez-Carpintero, Rocío

Publication type:

journal article