Rosario Jimenez-Domingo
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 16 publications
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.
Journal: EMBO molecular medicine
Published: February 23, 2022
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Journal: Journal of clinical medicine
Published: February 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Journal: Journal of inherited metabolic disease
Published: October 30, 2020
Mitochondrial DNA depletion syndrome-13: a case with an unusual onset
Journal: Revista de neurologia
Published: November 13, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Journal: Neurogenetics
Published: December 18, 2018
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.
Journal: European journal of human genetics : EJHG
Published: May 15, 2017
Level of training in autistic spectrum disorders among hospital paediatricians
Journal: Anales de pediatria (Barcelona, Spain : 2003)
Published: February 15, 2016
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review.
Journal: Neurologia (Barcelona, Spain)
Published: January 11, 2016
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
Journal: Neurobiology of disease
Published: February 05, 2015
Last Updated: 09/26/2026