Publicaciones
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Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Nº de citas: 5
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Candela-Cantó SA, Muchart-Lopez J, Ramírez-Camacho A, Becerra V, Alamar AM, Pascual A, Forero C, Rebollo M, Munuera-del Cerro JL, Aparicio J, Rumià J and Hinojosa J.
Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results
JOURNAL OF NEUROSURGERY-PEDIATRICS . 29(6): 681-692. Nº de citas: 11
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Moreno-Espinosa AL, Hawkins-Villarreal A, Burgos-Artizzu XP, Coronado-Gutierrez D, Castelazo S, Lip-Sosa DL, Fuenzalida J, Gallo DM, Peña-Ramirez T, Zuazagoitia P, Muñoz M, Parra-Cordero M, Gratacòs E and Palacio-Navarro A.
Concordance of the risk of neonatal respiratory morbidity assessed by quantitative ultrasound lung texture analysis in fetuses of twin pregnancies
SCIENTIFIC REPORTS . 12(1): 9016-9016. Nº de citas: 2
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Nº de citas: 8
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Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P and Lapunzina P.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Frontiers in Genetics . 13: 652454-652454. Nº de citas: 25
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Aparicio J, Niñerola-Baizán A, Perissinotti A, Rubí S, Muchart-Lopez J, Candela-Cantó SA, Campistol-Plana J and Setoain X.
Presurgical evaluation of drug-resistant paediatric focal epilepsy with PISCOM compared to SISCOM and FDG-PET*
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 97: 43-49. Nº de citas: 3
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Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Nº de citas: 2
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Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
PEDIATRIC NEUROLOGY . 128: 16-19. Nº de citas: 1
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Nguyen QTR, Ortigoza-Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB and Bachoud-Lévi AC.
Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy
FRONTIERS IN NEUROLOGY . 13: 817753-817753. Nº de citas: 3
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Soliani L, Martorell-Sampol L, Yubero-Siles D, Verges C, Petit V and Ortigoza-Escobar JD.
Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells
Movement Disorders Clinical Practice . 9(2): 252-254. Nº de citas: 1