| The model of Palliative Care in the perinatal setting: a review of the literature. AJ Balaguer A, Martín-Ancel A, Ortigoza-Escobar D, Escribano J BMC Pediatrics 12 (12), 25, 2012 | 187* | 2012 |
| Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics, and functional studies A Marcé‐Grau, L Martí‐Sánchez, H Baide‐Mairena, JD Ortigoza‐Escobar, ... Journal of inherited metabolic disease 42 (4), 581-597, 2019 | 99 | 2019 |
| Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics, 2017 | 69 | 2017 |
| Thiamine transporter-2 deficiency: outcome and treatment monitoring JD Ortigoza-Escobar, M Serrano, M Molero, A Oyarzabal, M Rebollo, ... Orphanet Journal of Rare Diseases 9, 1-10, 2014 | 67 | 2014 |
| Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors JD Ortigoza‐Escobar, M Alfadhel, M Molero‐Luis, N Darin, R Spiegel, ... Annals of neurology 82 (3), 317-330, 2017 | 62 | 2017 |
| Ndufs4 related Leigh syndrome: a case report and review of the literature JD Ortigoza-Escobar, A Oyarzabal, R Montero, R Artuch, C Jou, ... Mitochondrion 28, 73-78, 2016 | 62 | 2016 |
| Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome JD Ortigoza-Escobar, M Molero-Luis, A Arias, A Oyarzabal, N Darín, ... Brain 139 (1), 31-38, 2016 | 62 | 2016 |
| Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): evidence for hypoglycosylation-driven channelopathy M Izquierdo-Serra, AF Martínez-Monseny, L López, J Carrillo-García, ... International journal of molecular sciences 19 (2), 619, 2018 | 50 | 2018 |
| Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system L Marti-Sanchez, JD Ortigoza-Escobar, A Darling, M Villaronga, H Baide, ... Orphanet journal of rare diseases 13, 1-8, 2018 | 49 | 2018 |
| Treatment of genetic defects of thiamine transport and metabolism JD Ortigoza-Escobar, M Molero-Luis, A Arias, L Martí-Sánchez, ... Expert Review of Neurotherapeutics 16 (7), 755-763, 2016 | 41 | 2016 |
| Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases M Molero-Luis, D Casas-Alba, G Orellana, A Ormazabal, C Sierra, C Oliva, ... Scientific reports 10 (1), 18291, 2020 | 36 | 2020 |
| The European reference network for rare neurological diseases C Reinhard, AC Bachoud-Lévi, T Bäumer, E Bertini, A Brunelle, AI Buizer, ... Frontiers in neurology 11, 616569, 2021 | 31 | 2021 |
| Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results S Candela, MI Vanegas, A Darling, JD Ortigoza-Escobar, M Alamar, ... Journal of Neurosurgery: Pediatrics 22 (4), 416-425, 2018 | 31 | 2018 |
| Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene L Marti‐Sanchez, H Baide‐Mairena, A Marcé‐Grau, R Pons, A Skouma, ... Journal of Inherited Metabolic Disease 44 (2), 401-414, 2021 | 28 | 2021 |
| Variability in Phelan-McDermid syndrome in a cohort of 210 individuals J Nevado, S García-Miñaúr, M Palomares-Bralo, E Vallespín, ... Frontiers in genetics 13, 652454, 2022 | 27 | 2022 |
| Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood H Baide-Mairena, P Gaudó, L Marti-Sánchez, S Emperador, ... Molecular genetics and metabolism 126 (3), 250-258, 2019 | 27 | 2019 |
| Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study. Movement Disorders, 2017 | 21 | 2017 |
| Molecular characterization of Spanish patients with MECP2 duplication syndrome A Pascual‐Alonso, L Blasco, S Vidal, E Gean, P Rubio, M O'Callaghan, ... Clinical Genetics 97 (4), 610-620, 2020 | 20 | 2020 |
| A proposed diagnostic algorithm for inborn errors of metabolism presenting with movements disorders JD Ortigoza-Escobar Frontiers in Neurology 11, 582160, 2020 | 19 | 2020 |
| Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience M Batllori, M Molero‐Luis, A Ormazabal, R Montero, C Sierra, A Ribes, ... Journal of Inherited Metabolic Disease 41 (6), 1147-1158, 2018 | 16 | 2018 |
Pilar Rodriguez PomboVerified email at cbm.csic.es
