Publications
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Kuseyri Hübschmann O, Julià-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortés-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T and Garcia-Cazorla A.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
ANNALS OF NEUROLOGY . 92(2): 292-303. Number of citations: 4
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Wu V, Tillner J, Jones E, McKenzie JS, Gurung D, Mroz A, Poynter L, Simon D, Grau-Páez C, Altafaj X, Dumas ME, Gilmore I, Bunch J and Takats Z.
High Resolution Ambient MS Imaging of Biological Samples by Desorption Electro-Flow Focussing Ionization
ANALYTICAL CHEMISTRY . 94(28): 10035-10044. Number of citations: 13
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Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Koenig MK, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T and De Vivo D.
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome
Epilepsia . 63(7): 1748-1760. Number of citations: 10
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Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R and Pérez-Dueñas B.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
CLINICAL GENETICS . 102(1): 40-55. Number of citations: 4
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Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla-Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V and Kölker S.
Postauthorization safety study of betaine anhydrous
JOURNAL OF INHERITED METABOLIC DISEASE . 45(4): 719-733. Number of citations: 4
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Garcia-Cazorla A, De Oyarzabal-Sanz AL, Saudubray JM, Martinelly D and Dionisi-Vici C.
Genetic disorders of cellular trafficking
TRENDS IN GENETICS . 38(7): 724-751. Number of citations: 18
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Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Number of citations: 3
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Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, Garcia-Cazorla A, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P and Helbig I.
Assessing the landscape of STXBP1-related disorders in 534 individuals
BRAIN . 145(5): 1668-1683. Number of citations: 40
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Candela-Cantó SA, Muchart-Lopez J, Ramírez-Camacho A, Becerra V, Alamar AM, Pascual A, Forero C, Rebollo M, Munuera-del Cerro JL, Aparicio J, Rumià J and Hinojosa J.
Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results
JOURNAL OF NEUROSURGERY-PEDIATRICS . 29(6): 681-692. Number of citations: 7
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Olivé G, Slušná D, Vaquero L, Muchart-Lopez J, Rodríguez-Fornells A and Hinzen W.
Structural connectivity in ventral language pathways characterizes non-verbal autism
BRAIN STRUCTURE & FUNCTION . 227(5): 1817-1829. Number of citations: 3