Publications
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Pérez JPM, Muchart-Lopez J, Santa-María López V, Suñol M, Salvador-Marcos N, Pérez-Jaume S, Cruz-Martínez O and Morales-La Madrid A.
Targeted therapy for pediatric low-grade glioma
CHILDS NERVOUS SYSTEM . 37(8): 2511-2520. Number of citations: 13
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Mateu-Estivill R, Forné S, López-Sala A, Falcón C, Caldú X, Sopena JM, Sans A, Adan A, Grau S, Bargalló N and Serra-Grabulosa JM.
Functional connectivity alterations associated with literacy difficulties in early readers
BRAIN IMAGING AND BEHAVIOR . 15(4): 2109-2120. Number of citations: 11
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De Oyarzabal-Sanz AL, Musokhranova U, Barros LF and Garcia-Cazorla A.
Energy metabolism in childhood neurodevelopmental disorders
EBioMedicine . 69: 103474-103474. Number of citations: 36
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Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I and International Working Group on Neurotransmitter Related Disorders.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
JOURNAL OF INHERITED METABOLIC DISEASE . 44(4): 1070-1082. Number of citations: 14
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Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons-Estupina C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, Arzimanoglou A, Panagiotakaki E, Mikati MA, Duke AHC Research Group and French AHC Consortium.
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
brain communications . 3(3): . Number of citations: 9
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Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
PEDIATRIC NEUROLOGY . 119: 40-44. Number of citations: 6
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Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Number of citations: 6
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Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and EFACTS study group.
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
LANCET NEUROLOGY . 20(5): 362-372. Number of citations: 49
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Machuca C, Correa-Vela M, García-Navas D, Darling A, Villalón-García I, Sánchez-Alcázar JA, Pérez-Dueñas B, Erceg S and Espinós C.
Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.
STEM CELL RESEARCH . 53: 102338-102338. Number of citations: 1
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Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Number of citations: 22