Personas / Equipo Humano

Judith Silvia Armstrong Morón

Buscador de publicaciones

Publicaciones

  • Roche-Martinez A, Turón M, Callejón L, Elisenda Solé Heuberger, Armstrong-Moron J and Pineda M.

    Treatment Response in Behaviour Disorders in Rett Syndrome

    Journal of Behavioral and Brain Science . 3(2): 217-224.

  • Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch-Iriberri R, Martorell-Sampol L, Armstrong-Moron J, Anton-Lopez J, Torner-Rubies F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S and Grinberg D.

    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

    SCIENTIFIC REPORTS . 3: 1346-1346. Nº de citas: 50

    [doi:10.1038/srep01346]

  • Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong-Moron J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A and Renieri A.

    Rett networked database: An integrated clinical and genetic network of rett syndrome databases

    HUMAN MUTATION . 33(7): 1031-1036. Nº de citas: 15

    [doi:10.1002/humu.22072]

  • 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 citas: 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 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: 64

    [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: 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 citas: 97

    [doi:10.1136/jmg.2009.067884]