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Publicacions

  • 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.

    [doi:10.1093/clinchem/hvab091]

  • Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento-Osorio A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG and Bonne G.

    International retrospective natural history study of LMNA-related congenital muscular dystrophy.

    brain communications . 3(3): . Nº de cites: 2

    [doi:10.1093/braincomms/fcab075]

  • Alonso-Jiménez A, Fernández-Simón E, Natera-de Benito D, Ortez-Gonzalez CI, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Piñol-Jurado P, Carrasco-Rozas A, Suárez-Calvet X, Jimenez-Mallebrera C, Nascimento-Osorio A, Llauger J, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, Gallardo E, Illa I and Díaz-Manera J.

    Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.

    FRONTIERS IN NEUROLOGY . 12: 659922-659922.

    [doi:10.3389/fneur.2021.659922]

  • 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.

    [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): .

    [doi:10.3390/ijms22105180]

  • Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Nascimento-Osorio A, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J and Pandey UB.

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

    NATURE COMMUNICATIONS . 12(1): 2558-2558. Nº de cites: 2

    [doi:10.1038/s41467-021-22627-w]

  • Yubero-Siles D, Natera-de Benito D, Pijuan J, Armstrong-Moron J, Martorell-Sampol L, Fernàndez G, Joan Maynou Fernández, Jou-Munoz C, Roldan 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): . Nº de cites: 1

    [doi:10.3390/ijms22084274]

  • 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]

  • 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. Nº de cites: 1

    [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.

    [doi:10.1016/j.ejpn.2021.02.009]