Publicacions
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Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
CLINICAL CHEMISTRY . 67(8): 1113-1121. Nº de cites: 13
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Alamar AM, Candela-Cantó SA, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J.
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature
CHILDS NERVOUS SYSTEM . 37(8): 2441-2449. Nº de cites: 2
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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. Nº de cites: 16
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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. Nº de cites: 13
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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. Nº de cites: 58
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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. Nº de cites: 14
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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. Nº de cites: 8
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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. Nº de cites: 65
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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. Nº de cites: 2
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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. Nº de cites: 11
