Publicaciones
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Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . : .
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Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
HUMAN GENOMICS . 17(1): 85-85. Nº de citas: 1
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Jana Domínguez Carral, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.
Severity of NAO1-Related Disorder Correlates with Changes in G-Protein Function
ANNALS OF NEUROLOGY . 94(5): 987-1004.
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Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
PEDIATRIC NEUROLOGY . 144: 11-15.
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Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
clinical case reports . 11(4): . Nº de citas: 1
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Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
HUMAN GENOMICS . : .
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Piniella D, Canseco A, Vidal-Falcó S, Xiol-Viñas C, Díaz de Bustamante A, Martí-Carrera I, Armstrong-Moron J, Bastolla U and Zafra F.
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(2): . Nº de citas: 2
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Petazzi P, Jorge-Torres OC, Gomez A, Scognamiglio I, Serra-Musach J, Merkel A, Grases D, Xiol-Viñas C, O'Callaghan-Gordo M, Armstrong-Moron J, Esteller M and Guil S.
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(2): . Nº de citas: 2
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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: 1