Persones / Equip Humà

Judith Silvia Armstrong Morón

Buscador de publicacions

Publicacions

  • 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 cites: 45

    [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 cites: 14

    [doi:10.1002/humu.22072]

  • 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]

  • 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 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: 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 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: 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 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]