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Publicacions

  • Carrera-García L, Natera-de Benito D, Lleixà C, Ortez-Gonzalez CI, Colomer J, Nascimento-Osorio A, Saiz A, Dalmau J, Querol L and Armangue-Salvador T.

    Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.

    NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 6(5): . Nº de cites: 2

    [doi:10.1212/NXI.0000000000000602]

  • Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento-Osorio A, Kalko SG, Sardina MD, Del Vayo CÁ, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C and Hirano M.

    Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

    ANNALS OF NEUROLOGY . 86(2): 293-303. Nº de cites: 30

    [doi:10.1002/ana.25506]

  • Frongia AL, Natera-de Benito D, Ortez-Gonzalez CI, Alarcón M, Borrás A, Medina J, Vigo-Morancho M, Padrós N, Moya O, Armas J, Carrera-García L, Expósito-Escudero J, Cuadras-Palleja D, Bernal S, Martorell-Sampol L, Colomer J and Nascimento-Osorio A.

    Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.

    NEUROMUSCULAR DISORDERS . 29(7): 517-524. Nº de cites: 3

    [doi:10.1016/j.nmd.2019.04.003]

  • Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez-Gonzalez CI, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.

    CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Nº de cites: 5

    [doi:10.1002/ajmg.a.61122]

  • Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan-Gordo M, Ortez-Gonzalez CI, Nascimento-Osorio A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Munoz C, Muchart-Lopez J, Huisman TAGM, Poretti A, Lupo V, Espinós C and Pérez-Dueñas B.

    PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

    PARKINSONISM & RELATED DISORDERS . 61: 179-186. Nº de cites: 13

    [doi:10.1016/j.parkreldis.2018.10.013]

  • Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Nascimento-Osorio A, Villanova D, Kemaladewi DU, Cohn RD, Brudno M and Dowling JJ.

    Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

    AMERICAN JOURNAL OF HUMAN GENETICS . 104(3): 466-483. Nº de cites: 77

    [doi:10.1016/j.ajhg.2019.01.012]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

    Journal of Clinical Medicine . 8(1): . Nº de cites: 9

    [doi:10.3390/jcm8010068]

  • Ortez-Gonzalez CI, Natera-de Benito D, Carrera García L, Expósito J, Nolasco G and Nascimento-Osorio A.

    Advances in the treatment of Duchenne muscular dystrophy

    MEDICINA-BUENOS AIRES . 79(s3): 77-81. Nº de cites: 2

  • Natera-de Benito D, Ortez-Gonzalez CI, Carrera García L, Expósito J, Bobadilla E and Nascimento-Osorio A.

    Diagnosis and treatment of congenital myopaties

    MEDICINA-BUENOS AIRES . 79(s3): 82-86.

  • Natera-de Benito D, Berciano J, García A, M de Lucas E, Ortez-Gonzalez CI and Nascimento-Osorio A.

    Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient.

    Journal of Clinical Neuromuscular Disease . 20(2): 100-101.

    [doi:10.1097/CND.0000000000000217]