Publicacions
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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 cites: 2
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Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
BRAIN . 146(7): 3003-3013. Nº de cites: 3
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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.
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Tost A, Bachiller A, Garcia-Cazorla A, Medina-Rivera IF, Romero-Lafuente S and Mañanas MA.
Electroencephalographic assessment in patients with Rett syndrome during cognitive stimulation by means of eye tracking technology and alternative and augmentative communication systems.
2023 45TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE & BIOLOGY SOCIETY, EMBC . 2023: 1-4.
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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 cites: 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 cites: 1
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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 cites: 3
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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: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).
NEUROLOGY-GENETICS . 8(6): 1-14. Nº de cites: 1
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Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pias-Peleteiro LD, O'Callaghan-Gordo M, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S and Espinós C.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11847. Nº de cites: 1
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Hinojosa J, Simó-Nebot M, Armero-Campos G, Becerra MV, Alamar AM, Candela-Cantó SA, Culebras D, Muchart-Lopez J and Berrueco R.
Hemophilia and non-accidental head trauma in two siblings: lessons and legal implications
CHILDS NERVOUS SYSTEM . 38(12): 2415-2423.