Publications
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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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Perez Beltran, Meritxell, 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. Number of citations: 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. Number of citations: 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.
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Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Number of citations: 1
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Roubertie, A, Opladen, T, Brennenstuhl, H, Hubschmann, OK, Flint, L, Willemsen, MA, Leuzzi, V, Garcia-Cazorla A, Kurian, MA, Francois-Heude, MC, Hwu, P, Ben Zeev, B, Kiening, K, Roujeau, T, Pons, R and Pearson, TS.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 463-475. Number of citations: 7
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Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Sahin M and Pearl PL.
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
JOURNAL OF NEURODEVELOPMENTAL DISORDERS . 16(1): 21-21. Number of citations: 1