Publicaciones
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Diana Garcia Tirado, Molera C, Álvarez Beltrán M, Mercadal-Hally M, Vaquero Raya EC, Meavilla-Olivas SM, Johanna Martínez Osorio, Barber-Martínez de la Torre I, Cárdenas Vásquez A, Segarra Canton O and Martín-de-Carpi J.
A Better Understanding of Pediatric Autoimmune Pancreatitis: Over 13 Years of Experience
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION . 76(5): 640-645.
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Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
BRAIN PATHOLOGY . 33(3): . Nº de citas: 5
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Tristan-Noguero A, Fernández Carasa I, Calatayud Aristoy C, Bermejo-Casadesús C, Marina Pons Espinal, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch-Iriberri R, Raya Á, Garcia-Cazorla A and Consiglio A.
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
EMBO Molecular Medicine . 15(3): . Nº de citas: 3
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Petazzi P, Jorge-Torres OC, Gomez A, Scognamiglio I, Serra-Musach J, Merkel A, Grases D, Xiol-Viñas C, O'Callaghan-Gordo M, Armstrong-Moron J, Esteller M and Guil S.
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(2): . Nº de citas: 5
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Becerra V, Hinojosa J, Candela-Cantó SA, Culebras D, Alamar AM, Armero-Campos G, Gastón Echaniz Barbero, Artés D, Munuera-del Cerro JL and Muchart-Lopez J.
The impact of 1.5-T intraoperative magnetic resonance imaging in pediatric tumor surgery: Safety, utility, and challenges
Frontiers in oncology . 12: 1021335-1021335. Nº de citas: 2
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Candela-Cantó SA, Muchart-Lopez J, Carlos Valera Dávila, Jou-Munoz C, Culebras D, Alamar AM, Becerra V, Artés D, Armero-Campos G, Aparicio J, Hinojosa J and Rumià J.
Completion of disconnective surgery for refractory epilepsy in pediatric patients using robot-assisted MRI-guided laser interstitial thermal therapy
JOURNAL OF NEUROSURGERY-PEDIATRICS . 31(1): 61-70. Nº de citas: 6
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Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch-Iriberri R, Pias-Peleteiro LD, Garcia-Cazorla A, Baric I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM and Willemsen MAAP.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
JOURNAL OF INHERITED METABOLIC DISEASE . 46(1): 66-75. Nº de citas: 10
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Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry PG, Joers J, Lenglet C, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual S, Van den Eede D, Martin-Ugarte I, Vilà-Brau A, Mantilla A, Pascual M, Martinell M, Meya U and Durr A.
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia
NEUROLOGY-GENETICS . 8(6): 1-14. Nº de citas: 3
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Kožich V, Schwahn BC, Sokolová J, Krížková M, Ditroi T, Krijt J, Khalil Y, Krížek T, Vaculíková-Fantlová T, Stiburková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, Garcia-Cazorla A, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G and Nagy P.
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
REDOX BIOLOGY . 58: 102517-102517. Nº de citas: 17
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Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Julià-Palacios NA, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Velázquez Fragua R, Gómez T, Alcoverro Fortuny O, García-Jimenez I, López-Laso E, Roche-Martínez A, Muchart-Lopez J and Garcia-Cazorla A.
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
Neuroradiology . 64(11): 2179-2190. Nº de citas: 2