Long-term prognosis of childhood absence epilepsy

Autor: Martínez-Ferrández, C., Martínez-Salcedo, E., Casas-Fernández, C., Alarcón-Martínez, H., Ibáñez-Micó, S., Domingo-Jiménez, R.

Publikováno v: In Neurología (English Edition) May 2019 34(4):224-228

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review

Autor: Ibáñez-Micó, S., Marcos Oltra, A.M., de Murcia Lemauviel, S., Ruiz Pruneda, R., Martínez Ferrández, C., Domingo Jiménez, R.

Publikováno v: In Neurología (English Edition) November-December 2017 32(9):616-622

Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene

Autor: Ibáñez-Micó, S., Domingo Jiménez, R., Pérez-Cerdá, C., Ghandour-Fabre, D.

Publikováno v: In Neurología (English Edition) March 2019 34(2):139-141

Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Autor: Sánchez-Iglesias S, Crocker M, O'Callaghan-Gordo M, Darling A, Garcia-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ, Araújo-Vilar D

Publikováno v: Neurogenetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1f23d72815dd4ed2a9fb5525980de2c8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16105

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Autor: Ortez, C. Duarte, S.T. Ormazábal, A. Serrano, M. Pérez, A. Pons, R. Pineda, M. Yapici, Z. Fernández-Álvarez, E. Domingo-Jiménez, R. De Castro, P. Artuch, R. García-Cazorla, A.

Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopathy; type "A": later onset, less severe and bette

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::fcd0d474e6eac79e3b77a84bdf0a16a9
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088375