Publicaciones
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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.
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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
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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
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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: 62
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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
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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
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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
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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: 40
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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
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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