Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • 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 citas: 14

    [doi:10.1002/jimd.12360]

  • 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): . Nº de citas: 10

    [doi:10.1093/braincomms/fcab128]

  • 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 citas: 6

    [doi:10.1016/j.pediatrneurol.2021.03.005]

  • 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 citas: 6

    [doi:10.3390/ijms22105180]

  • 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 citas: 54

    [doi:10.1016/S1474-4422(21)00027-2]

  • 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 citas: 1

    [doi:10.1016/j.scr.2021.102338]

  • 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. Nº de citas: 23

    [doi:10.1186/s13023-021-01784-7]

  • Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de citas: 10

    [doi:10.3390/ijms22084274]

  • Carrera-García L, Muchart-Lopez J, Lazaro JJ, Exposito-Escudero JM, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D and Nascimento-Osorio A.

    Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 31: 92-101. Nº de citas: 11

    [doi:10.1016/j.ejpn.2021.02.009]

  • Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong-Moron J, Renieri A and Mari F.

    IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

    CLINICAL GENETICS . 99(3): 462-474. Nº de citas: 12

    [doi:10.1111/cge.13908]