Publicaciones
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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: 1
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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, Alfons Macaya, 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: 11
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Soliani L, Martorell-Sampol L, Yubero-Siles D, Verges C, Petit V and Ortigoza-Escobar JD.
Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells
Movement Disorders Clinical Practice . 9(2): 252-254. Nº de citas: 1
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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: 3
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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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Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
GENES . 12(10): 1590. Nº de citas: 8
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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
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Pascual-Alonso A, Martinez-Monseny T, Xiol-Viñas C and Armstrong-Moron J.
MECP2 Related Disorders in Males
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(17): 9610. Nº de citas: 10
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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: 1
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Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
CLINICAL CHEMISTRY . 67(8): 1113-1121. Nº de citas: 6