Publicaciones
-
Ghasemi, MR, Fateh, ST, Ben-Mahmoud, A, Gupta, V, Stühn, LG, Lesca, G, Chatron, N, Platzer, K, Edery, P, Sadeghi, H, Isidor, B, Cogné, B, Schulz, HL, Krauspe-Stübecke, I, Periyasamy, R, Nampoothiri, S, Mirfakhraie, R, Alijanpour, S, Syrbe, S, Pfeifer, U, Spranger, S, Grundmann-Hauser, K, Haack, TB, Papadopoulou, MT, Gonçalves, TD, Panagiotakaki, E, Arzimanoglou A, Tonekaboni, SH, Rossi, M, Korenke, GC, Lacassie, Y, Jang, MH, Layman, LC, Miryounesi, M and Kim, HG.
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . : .
-
Borrell-Pichot M, Fons-Estupina C, Boronat S and Sierra-Marcos A.
Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report
Epilepsia Open . : .
-
Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . 22(06): 466-469.
-
Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Nº de citas: 1
-
Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross JH, Jozwiak S, Wilmshurst JM, Vigevano F, Auvin S, Nabbout R and Curatolo P.
The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives
LANCET CHILD & ADOLESCENT HEALTH . 8(11): 821-834. Nº de citas: 3
-
González-Crespo A, Brugada-Bellsolà F, Candela-Cantó SA, Aparicio J, Arboix JR and Hinojosa J.
Robot-assisted insular stereoelectroencephalography in pediatric drug-resistant epilepsy: accuracy and diagnostic value
CHILDS NERVOUS SYSTEM . 40(11): 3729-3744.
-
Carmona-Hidalgo, B, Herrera-Ramos, E, Rodríguez-López, R, Nou-Fontanet, L, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up
PLoS One . 19(10): .
-
Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.
Extra-temporal pediatric low-grade gliomas and epilepsy
CHILDS NERVOUS SYSTEM . 40(10): 3309-3327.
-
Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication
CLINICAL CHEMISTRY . 70(12): 1443-1451.
-
Fonseca, E, Olivé-Cirera, G, Martinez-Hernandez, E, Guasp, M, Naranjo, L, Ruiz-García, R, Caballero, E, González-Alvarez, ?á, Delgadillo V, Romeu-Cerrillo G, Del Prado-Sanchez C, Cabrera-Maqueda, JM, Benito-León, J, Iñiguez, C, Garcia-Dominguez, JM, Calles, C, Cano, A, Alvarez-Bravo, G, González-Suárez, I, Oreja-Guevara, C, Ros, M, Millan-Pascual, J, Meca-Lallana, JE, Canelo, LB, Martín-Martínez, J, Palao, M, Gracia, J, Villaverde-González, R, Llufriu, S, Blanco, Y, Saiz, A, Dalmau, J, Sepulveda, M and Armangue-Salvador T.
Investigating the 2023 MOGAD Criteria in Children and Adults With MOG-Antibody Positivity Within and Outside Attacks
Neurology . 103(6): . Nº de citas: 4