Publications
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Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou-Munoz C, Julià-Palacios NA, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, Garcia-Cazorla A, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E and Pujol A.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
JOURNAL OF CLINICAL INVESTIGATION . 133(10): . Number of citations: 24
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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. Number of citations: 2
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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): . Number of citations: 7
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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): . Number of citations: 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. Number of citations: 2
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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): . Number of citations: 7
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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. Number of citations: 9
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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. Number of citations: 11
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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. Number of citations: 3
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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.
