| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 670 | 2019 |
| MYO-MRI diagnostic protocols in genetic myopathies JW Chardon, J Díaz-Manera, G Tasca, CG Bönnemann, D Gómez-Andrés, ... Neuromuscular Disorders 29 (11), 827-841, 2019 | 61 | 2019 |
| Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern K Hankiewicz, RY Carlier, L Lazaro, J Linzoain, C Barnerias, ... Muscle & nerve 52 (5), 728-735, 2015 | 60 | 2015 |
| Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes J Díaz-Manera, A Alejaldre, L González, M Olivé, D Gómez-Andrés, ... Neuromuscular Disorders 26 (1), 33-40, 2016 | 53 | 2016 |
| Abnormal motor phenotype at adult stages in mice lacking type 2 deiodinase S Bárez-López, D Bosch-García, D Gómez-Andrés, I Pulido-Valdeolivas, ... PloS one 9 (8), e103857, 2014 | 51 | 2014 |
| New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy J Alonso-Perez, L González-Quereda, L Bello, M Guglieri, V Straub, ... Brain 143 (9), 2696-2708, 2020 | 50 | 2020 |
| Desarrollo neurológico normal del niño D Gómez Andrés, I Pulido Valdeolivas, L Fiz Pérez Pediatr Integral 19 (9), 641-7, 2015 | 38 | 2015 |
| MCT8 Deficiency: The Road to Therapies for a Rare Disease C Grijota-Martínez, S Bárez-López, D Gómez-Andrés, A Guadaño-Ferraz Frontiers in Neuroscience 14, 380, 2020 | 35 | 2020 |
| COVID-19 in children with neuromuscular disorders D Natera-de Benito, S Aguilera-Albesa, L Costa-Comellas, ... Journal of neurology 268 (9), 3081-3085, 2021 | 34 | 2021 |
| Pediatric laminopathies: Whole‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy D Gómez‐Andrés, I Dabaj, D Mompoint, K Hankiewicz, V Azzi, C Ioos, ... Muscle & nerve 54 (2), 192-202, 2016 | 33 | 2016 |
| DLG4-related synaptopathy: a new rare brain disorder A Rodríguez-Palmero, MM Boerrigter, D Gómez-Andrés, KA Aldinger, ... Genetics in Medicine 23 (5), 888-899, 2021 | 27 | 2021 |
| Consumption of Goat Cheese Naturally Rich in Omega-3 and Conjugated Linoleic Acid Improves the Cardiovascular and Inflammatory Biomarkers of Overweight and Obese Subjects: A … C Santurino, B López-Plaza, J Fontecha, MV Calvo, LM Bermejo, ... Nutrients 12 (5), 1315, 2020 | 27 | 2020 |
| Retinal and brain damage during multiple sclerosis course: inflammatory activity is a key factor in the first 5 years I Pulido-Valdeolivas, M Andorrà, D Gómez-Andrés, K Nakamura, ... Scientific Reports 10 (1), 1-11, 2020 | 25 | 2020 |
| International retrospective natural history study of LMNA-related congenital muscular dystrophy R Ben Yaou, P Yun, I Dabaj, G Norato, S Donkervoort, H Xiong, ... Brain Communications, 2021 | 23 | 2021 |
| A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome A Atalaia, R Thompson, A Corvo, L Carmody, D Piscia, L Matalonga, ... Orphanet Journal of Rare Diseases 15 (1), 1-11, 2020 | 22 | 2020 |
| Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests I Pulido-Valdeolivas, D Gómez-Andrés, JA Martín-Gonzalo, ... PloS one 13 (3), e0192345, 2018 | 22 | 2018 |
| External evaluation of gait and functional changes after a single-session multiple myofibrotenotomy in school-aged children with spastic diplegia D Gomez-Andres, I Pulido-Valdeolivas, JA Martín-Gonzalo, ... Revista de neurologia 58 (6), 247-254, 2014 | 21* | 2014 |
| Characterizing Normal and Pathological Gait through Permutation Entropy M Zanin, D Gómez-Andrés, I Pulido-Valdeolivas, JA Martín-Gonzalo, ... Entropy 20 (1), 77, 2018 | 18 | 2018 |
| Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) IP Castellano, M Cabrera-Serrano, RC Medina, MG Cattinari, SE García, ... Neurología (English Edition), 2022 | 17* | 2022 |
| Permutation Entropy and Irreversibility in Gait Kinematic Time Series from Patients with Mild Cognitive Decline and Early Alzheimer’s Dementia JA Martín-Gonzalo, I Pulido-Valdeolivas, Y Wang, T Wang, ... Entropy 21 (9), 868, 2019 | 17 | 2019 |
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