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Publications

  • Pijuan J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.

    FRONTIERS IN NEUROSCIENCE . 16: 784880-784880.

    [doi:10.3389/fnins.2022.784880]

  • Exposito-Escudero, J, Camacho, A, Amado, A, Fernandez, J, Molina, A, Cantarin, V, Carrera, L, Natera-de Benito D, Ortez-Gonzalez CI and Nascimento-Osorio A.

    Current situation of medical care in female carriers of DMD

    NEUROMUSCULAR DISORDERS . 31: 81-81.

    [doi:10.1016/j.nmd.2021.07.132]

  • Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, 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: 1

    [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 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.

    [doi:10.3390/ijms22105180]

  • Natera-de Benito D, Foley AR, Domínguez-González C, Ortez-Gonzalez CI, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo-Morancho M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Macarena Maria Alejandra Alarcón Cornejo, Cuadras-Palleja D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou-Munoz C, Jimenez-Mallebrera C, Bönnemann CG and Nascimento-Osorio A.

    Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

    Neurology . 96(10): 1413-1424. Number of citations: 2

    [doi:10.1212/WNL.0000000000011499]

  • Carrera-García L, Muchart-Lopez J, Lazaro JJ, Expósito-Escudero J, 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. Number of citations: 1

    [doi:10.1016/j.ejpn.2021.02.009]

  • Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.

    The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

    PEDIATRIC NEUROLOGY . 115: 50-65. Number of citations: 2

    [doi:10.1016/j.pediatrneurol.2020.11.002]

  • Carrera-García L, Muchart-Lopez J, Lazaro JJ, Expósito-Escudero J, 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.

    Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101].

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . : .

    [doi:10.1016/j.ejpn.2021.04.001]