| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 197 | 2019 |
| Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study I Ferrer, J Armstrong, S Capellari, P Parchi, T Arzberger, J Bell, H Budka, ... Brain Pathology 17 (3), 297-303, 2007 | 167 | 2007 |
| Novel FOXG1 mutations associated with the congenital variant of Rett syndrome MA Mencarelli, A Spanhol-Rosseto, R Artuso, D Rondinella, R De Filippis, ... Journal of medical genetics 47 (1), 49-53, 2010 | 134 | 2010 |
| Rett syndrome in Spain: mutation analysis and clinical correlations E Monrós, J Armstrong, E Aibar, P Poo, I Canós, M Pineda Brain and Development 23, S251-S253, 2001 | 110 | 2001 |
| Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome ST Duarte, J Armstrong, A Roche, C Ortez, A Perez, MM O’Callaghan, ... PloS one 8 (7), e68851, 2013 | 94 | 2013 |
| The impact of MECP2 mutations in the expression patterns of Rett syndrome patients E Ballestar, S Ropero, M Alaminos, J Armstrong, F Setien, R Agrelo, ... Human genetics 116, 91-104, 2005 | 92 | 2005 |
| Clinical and myopathological evaluation of early-and late-onset subtypes of myofibrillar myopathy M Olivé, Z Odgerel, A Martínez, JJ Poza, FG Bragado, RJ Zabalza, I Jericó, ... Neuromuscular Disorders 21 (8), 533-542, 2011 | 89 | 2011 |
| Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype M Lucariello, E Vidal, S Vidal, M Saez, L Roa, D Huertas, M Pineda, ... Human Genetics 135, 1343-1354, 2016 | 80 | 2016 |
| Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation J Armstrong, P Póo, M Pineda, E Aibar, E Geán, V Català, E Monrós Annals of Neurology: Official Journal of the American Neurological …, 2001 | 74 | 2001 |
| l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy D Soto, M Olivella, C Grau, J Armstrong, C Alcon, X Gasull, ... Science signaling 12 (586), eaaw0936, 2019 | 70 | 2019 |
| CDKL5 variants: Improving our understanding of a rare neurologic disorder RD Hector, VM Kalscheuer, F Hennig, H Leonard, J Downs, A Clarke, ... Neurology: Genetics 3 (6), e200, 2017 | 69 | 2017 |
| Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene M Olivé, J Armstrong, F Miralles, A Pou, M Fardeau, L Gonzalez, ... Neuromuscular Disorders 17 (6), 443-450, 2007 | 68 | 2007 |
| Targeted next generation sequencing in patients with inborn errors of metabolism D Yubero, N Brandi, A Ormazabal, À Garcia-Cazorla, B Pérez-Dueñas, ... PloS one 11 (5), e0156359, 2016 | 65 | 2016 |
| Epilepsy in Rett syndrome—Lessons from the Rett networked database A Nissenkorn, RS Levy‐Drummer, O Bondi, A Renieri, L Villard, F Mari, ... Epilepsia 56 (4), 569-576, 2015 | 64 | 2015 |
| Familial Alzheimer disease associated with A713T mutation in APP J Armstrong, M Boada, MJ Rey, N Vidal, I Ferrer Neuroscience letters 370 (2-3), 241-243, 2004 | 62 | 2004 |
| Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders A Fernández-Marmiesse, M Morey, M Pineda, J Eiris, ML Couce, ... Orphanet journal of rare diseases 9, 1-16, 2014 | 57 | 2014 |
| Mutations in JMJD1C are involved in Rett syndrome and intellectual disability MA Sáez, J Fernández-Rodríguez, C Moutinho, JV Sanchez-Mut, ... Genetics in Medicine 18 (4), 378-385, 2016 | 55 | 2016 |
| InterRett, a model for international data collection in a rare genetic disorder S Louise, S Fyfe, A Bebbington, N Bahi-Buisson, A Anderson, M Pineda, ... Research in Autism Spectrum Disorders 3 (3), 639-659, 2009 | 55 | 2009 |
| Genetic landscape of Rett syndrome spectrum: improvements and challenges S Vidal, C Xiol, A Pascual-Alonso, M O’callaghan, M Pineda, J Armstrong International journal of molecular sciences 20 (16), 3925, 2019 | 49 | 2019 |
| Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas P Sarrión, A Sangorrin, R Urreizti, A Delgado, R Artuch, L Martorell, ... Scientific Reports 3 (1), 1346, 2013 | 49 | 2013 |
Francesc PalauHead of Dept. of Genetic and Molecular Medicine, Sant Joan de Déu Children's Hospital , Barcelona在 sjdhospitalbarcelona.org 的电子邮件经过验证
