Persones / Equip Humà

Judith Silvia Armstrong Morón

Buscador de publicacions

Publicacions

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients.

    JIMD Reports . 4: 13-16. Nº de cites: 4

    [doi:10.1007/8904_2011_41]

  • Roche-Martinez A, Armstrong-Moron J, Gerotina E, Fons-Estupina C, Campistol-Plana J and Pineda M.

    CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain

    Journal of Pediatric Epilepsy . 1(1): 27-35.

    [doi:10.3233/PEP-2012-005]

  • 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 cites: 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 cites: 62

    [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 cites: 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 cites: 21

    [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 cites: 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 cites: 40

    [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 cites: 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 cites: 6