Publicaciones
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Fernandez-Isern G, Yubero-Siles D, Palau F and Armstrong-Moron J.
Molecular Modelling Hurdle in the Next-Generation Sequencing Era.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(13): .
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Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de citas: 6
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Nº de citas: 8
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Siqueira E, Obiols-Guardia A, Jorge-Torres OC, Oliveira-Mateos C, Soler M, Ramesh-Kumar D, Setién F, van Rossum D, Pascual-Alonso A, Xiol-Viñas C, Ivan C, Shimizu M, Armstrong-Moron J, Calin GA, Pasterkamp RJ, Esteller M and Guil S.
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.
MOLECULAR THERAPY-NUCLEIC ACIDS . 27: 621-644. Nº de citas: 8
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Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Nº de citas: 2
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Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch-Iriberri R, Yoldi ME, O'Callaghan-Gordo M, Garcia-Cazorla A, Armstrong-Moron J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A and GWMD working group.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology . 98(9): 912-923. Nº de citas: 13
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Migliorelli C, Medina-Rivera IF, Bachiller A, Tost A, Alonso-Lopez JF, López-Sala A, Armstrong-Moron J, O'Callaghan-Gordo M, Pineda M, Mañanas MA, Romero-Lafuente S and Garcia-Cazorla A.
Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH . 66(3): 213-224. Nº de citas: 5
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Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ and Couce ML.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(24): 13484. Nº de citas: 7
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Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness
PARKINSONISM & RELATED DISORDERS . 91: 19-22. Nº de citas: 4
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Xiol-Viñas C, Marina Heredia Torras, Pascual-Alonso A, De Oyarzabal-Sanz AL and Armstrong-Moron J.
Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(19): 10375. Nº de citas: 2