Publications
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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. Number of citations: 28
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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): . Number of citations: 13
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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. Number of citations: 10
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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. Number of citations: 16
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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. Number of citations: 8
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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. Number of citations: 4
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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(1): 36-36. Number of citations: 26
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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.
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.
BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Number of citations: 5
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Hector, RD, Kalscheuer, VM, Hennig, F, Leonard, H, Downs, J, Clarke, A, Benke, TA, Armstrong-Moron J, Pineda M, Bailey, MES and Cobb, SR.
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
NEUROLOGY-GENETICS . 3(6): 200. Number of citations: 49
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Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
SCIENTIFIC REPORTS . 7(1): 12288-12288. Number of citations: 19