Publicacions
-
Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
SCIENTIFIC REPORTS . 9: 9128-9128. Nº de cites: 4
-
Soto D, Olivella M, Grau-Páez C, Armstrong-Moron J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, de Salazar MG, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy
SCIENCE SIGNALING . 12(586): . Nº de cites: 49
-
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong-Moron J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L and Renieri A.
Analysis of the Phenotypes in the Rett Networked Database
INTERNATIONAL JOURNAL OF GENOMICS . 2019: 6956934-6956934. Nº de cites: 19
-
Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Journal of Clinical Medicine . 8(1): . Nº de cites: 12
-
Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de cites: 9
-
Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.
Mutation of PACS1: the milder end of the spectrum
CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Nº de cites: 16
-
Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de cites: 7
-
Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.
X-linked adrenoleukodystrophy with an atypical radiological pattern
REVISTA DE NEUROLOGIA . 66(7): 237-240. Nº de cites: 4
-
López M, García-Oguiza A, Armstrong-Moron J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V and Domínguez-Garrido E.
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
BMC MEDICAL GENETICS . 19: 36-36. Nº de cites: 26
-
Soto D, Olivella M, Grau C, Armstrong-Moron J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.
RETRACTED: Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement (Retracted article. See vol. 83, pg. 715, 2018)
BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Nº de cites: 5