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Publicaciones

  • Roche Martínez A, Alonso Colmenero MI, Gomes Pereira A, Sanmartí Vilaplana FX, Armstrong-Moron J and Pineda M.

    Reflex seizures in Rett syndrome

    EPILEPTIC DISORDERS . 13(4): 389-393. Nº de citas: 20

    [doi:10.1684/epd.2011.0475]

  • Olivé M, Odgerel Z, Martínez A, Poza JJ, Bragado FG, Zabalza RJ, Jericó I, Gonzalez-Mera L, Shatunov A, Lee HS, Armstrong-Moron J, Maraví E, Arroyo MR, Pascual-Calvet J, Navarro C, Paradas C, Huerta M, Marquez F, Rivas EG, Pou A, Ferrer I and Goldfarb LG.

    Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

    NEUROMUSCULAR DISORDERS . 21(8): 533-542. Nº de citas: 61

    [doi:10.1016/j.nmd.2011.05.002]

  • Roche-Martinez A, Gerotina E, Armstrong-Moron J, Sans-Capdevila O and Pineda M.

    FOXG1, a new gene responsible for the congenital form of Rett syndrome

    REVISTA DE NEUROLOGIA . 52(10): 597-602. Nº de citas: 15

    [doi:10.33588/rn.5210.2010725]

  • Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong-Moron J, Català V and Martínez F.

    De novo Interstitial Triplication of MECP2 in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation

    CYTOGENETIC AND GENOME RESEARCH . 135(2): 93-101. Nº de citas: 20

    [doi:10.1159/000330917]

  • Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong-Moron J, Roche A, Pineda M, Gak E, Mari F, Ariani F and Renieri A.

    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

    JOURNAL OF MEDICAL GENETICS . 47(1): 49-53. Nº de citas: 97

    [doi:10.1136/jmg.2009.067884]

  • Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Ben Zeev B, Wu XR, Bao X, Mac Leod P, Armstrong-Moron J and Leonard H.

    InterRett, a model for international data collection in a rare genetic disorder

    RESEARCH IN AUTISM SPECTRUM DISORDERS . 3(3): 639-659. Nº de citas: 39

    [doi:10.1016/j.rasd.2008.12.004]

  • Gamez J, Armstrong-Moron J, Shatunov A, Selva-O'Callaghan A, Dominguez-Oronoz R, Ortega A, Goldfarb L, Ferrer I and Olivé M.

    Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: A novel myotilinopathy phenotype?

    JOURNAL OF THE NEUROLOGICAL SCIENCES . 277(1-2): 167-171. Nº de citas: 10

    [doi:10.1016/j.jns.2008.10.019]

  • Guerrero D, Martínez-Velilla N, Caballero MC, Mendióroz MT, Tuñón T, Masdeu J, Rodríguez A, Armstrong-Moron J and Ferrer I.

    A patient with MV2 subtype of sporadic Creutzfeldt-Jakob disease and atypical clinical presentation

    CLINICAL NEUROPATHOLOGY . 27(6): 408-413. Nº de citas: 6

  • Ferrer I, Armstrong-Moron J, Capellari S, Parchi P, Arzberger T, Bell J, Budka H, Ströbel T, Giaccone G, Rossi G, Bogdanovic N, Fakai P, Schmitt A, Riederers P, Al-Sarraj S, Ravid R and Kretzschmar H.

    Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue:: A BrainNet Europe study

    BRAIN PATHOLOGY . 17(3): 297-303. Nº de citas: 119

    [doi:10.1111/j.1750-3639.2007.00073.x]

  • Olivé M, Armstrong-Moron J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martínez F, Fischer D, Martínez Matos JA, Shatunov A, Goldfarb L and Ferrer I.

    Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

    NEUROMUSCULAR DISORDERS . 17(6): 443-450. Nº de citas: 43

    [doi:10.1016/j.nmd.2007.02.009]