Publicacions
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Begley D, Gabathuler R, Pastores G, Garcia-Cazorla A, Ardigò D, Scarpa M, Tomanin R and Tosi G.
Challenges and opportunities in neurometabolic disease treatment with enzyme delivery
EXPERT OPINION ON DRUG DELIVERY . : 1-12.
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Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511.
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Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.
Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances
WORLD NEUROSURGERY . 187: 124-132.
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Tost A, Romero-Lafuente S, Alonso-Lopez JF, Bachiller A, Serna LY, Medina-Rivera IF, Garcia-Cazorla A and Mañanas MA.
EEG connectivity patterns in response to gaming and learning-based cognitive stimulations in Rett syndrome.
RESEARCH IN DEVELOPMENTAL DISABILITIES . 150: 104751-104751.
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Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L and Vanderver A.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy . 26(7): 739-748.
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Perez, M., Roldan-Merino J, Russi ME, Garau-Rolandi M, Colomé-Roura R, Sampaio, Francisco, Domínguez M, Farrés M, Hurtado B and Alda JA.
The Development and Content Validation of a Clinical Screening Scale to Identify Attention-Deficit Hyperactivity Disorder Cases Based on the Gender Perspective: An e-Delphi Study.
Healthcare . 12(13): 1282.
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Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Brodtkorb, E, Ostergaard, E, de Coo, I, Pias-Peleteiro LD, Isohanni, P, Uusimaa, J, Majamaa, K, Kaerppae, M, Ortigoza-Escobar JD, Tangeraas, T, Berland, S, Harrison, E, Biggs, H, Horvath, R, Darin, N, Rahman, S and Bindoff, LA.
Status epilepticus in POLG disease: a large multinational study
JOURNAL OF NEUROLOGY . : .
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Julià-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortés-Saladelafont E, Rovira-Remisa MM, Yildiz Y, Mercimek-Andrews S, Assmann B, Stevanovic G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, Garcia-Cazorla A and Opladen T.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 447-462. Nº de cites: 2
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Jung-Kc K, Tristan-Noguero A, Altankhuyag A, Piñol Belenguer D, Prestegård KS, Fernandez-Carasa I, Colini Baldeshi A, Sigatulina Bondarenko M, Garcia-Cazorla A, Consiglio A and Martinez A.
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-inmouse model
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 494-508. Nº de cites: 2
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Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, Garcia-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Julià-Palacios NA, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB and Pearl PL.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
MOLECULAR GENETICS AND METABOLISM . 142(1): 108363-108363.