Publications
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Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Frontiers in Genetics . 6: 102-102. Number of citations: 18
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Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D, SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL and Lapunzina P.
A New Overgrowth Syndrome is due to Mutations in RNF125
HUMAN MUTATION . 35(12): 1436-1441. Number of citations: 35
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Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
BMC PEDIATRICS . 14: 284-284. Number of citations: 15
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Rodrigues F, Grenha J, Ortez-Gonzalez CI, Nascimento-Osorio A, Morte B, M-Belinchón M, Armstrong-Moron J and Colomer J.
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
BMC PEDIATRICS . 14: 252-252. Number of citations: 16
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Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong-Moron J, Castiñeiras D and Cocho JA.
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
ORPHANET JOURNAL OF RARE DISEASES . 9: 59-59. Number of citations: 40
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Turon-Vinas E, Pineda M, Cusi V, Lopez-Laso E, Del Pozo RL, Gutierrez-Solana LG, Moreno DC, Sierra-Corcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodriguez J, González V, O'Callaghan-Gordo M, Muchart-Lopez J and Armstrong-Moron J.
Vanishing white matter disease in a spanish population.
Journal of Central Nervous System Disease . 6: 59-68. Number of citations: 15
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Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome
PLoS One . 8(7): . Number of citations: 60
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Roche-Martinez A, Turón M, Callejón L, Elisenda Solé Heuberger, Armstrong-Moron J and Pineda M.
Treatment Response in Behaviour Disorders in Rett Syndrome
Journal of Behavioral and Brain Science . 3(2): 217-224.
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Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch-Iriberri R, Martorell-Sampol L, Armstrong-Moron J, Anton-Lopez J, Torner-Rubies F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S and Grinberg D.
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
SCIENTIFIC REPORTS . 3: 1346-1346. Number of citations: 49
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Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong-Moron J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A and Renieri A.
Rett networked database: An integrated clinical and genetic network of rett syndrome databases
HUMAN MUTATION . 33(7): 1031-1036. Number of citations: 14