| Autosomal recessive cerebellar ataxias F Palau, C Espinós Orphanet journal of rare diseases 1, 1-19, 2006 | 248 | 2006 |
| USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses A Adato, S Vreugde, T Joensuu, N Avidan, R Hamalainen, O Belenkiy, ... European Journal of Human Genetics 10 (6), 339-350, 2002 | 199 | 2002 |
| Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect R Claramunt, L Pedrola, T Sevilla, AL De Munain, J Berciano, A Cuesta, ... Journal of medical genetics 42 (4), 358-365, 2005 | 198 | 2005 |
| Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series R Sivera, T Sevilla, JJ Vílchez, D Martinez-Rubio, MJ Chumillas, ... Neurology 81 (18), 1617-1625, 2013 | 159 | 2013 |
| Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy T Sevilla, T Jaijo, D Nauffal, D Collado, MJ Chumillas, JJ Vilchez, ... Brain 131 (11), 3051-3061, 2008 | 119 | 2008 |
| Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation R Artuch, G Brea-Calvo, P Briones, A Aracil, M Galván, C Espinós, ... Journal of the neurological sciences 246 (1-2), 153-158, 2006 | 116 | 2006 |
| Mutations in the MORC2 gene cause axonal Charcot–Marie–Tooth disease T Sevilla, V Lupo, D Martínez-Rubio, P Sancho, R Sivera, MJ Chumillas, ... Brain 139 (1), 62-72, 2016 | 99 | 2016 |
| Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot‐Marie‐Tooth disease R Sivera, C Espinós, JJ Vílchez, F Mas, D Martínez‐Rubio, MJ Chumillas, ... Journal of the Peripheral Nervous System 15 (4), 334-344, 2010 | 87 | 2010 |
| The USH2A c. 2299delG mutation: dating its common origin in a Southern European population E Aller, L Larrieu, T Jaijo, D Baux, C Espinós, F González-Candelas, ... European Journal of Human Genetics 18 (7), 788-793, 2010 | 77 | 2010 |
| The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor JCJ Eikenboom, G Castaman, PW Kamphuisen, FR Rosendaal, ... Thrombosis and haemostasis 87 (02), 252-257, 2002 | 64 | 2002 |
| Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up M Pineda, R Montero, A Aracil, MM O'Callaghan, A Mas, C Espinos, ... Movement disorders 25 (9), 1262-1268, 2010 | 62 | 2010 |
| Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway V Lupo, MI Galindo, D Martínez-Rubio, T Sevilla, JJ Vílchez, F Palau, ... Human molecular genetics 18 (23), 4603-4614, 2009 | 61 | 2009 |
| Mitochondrial dysfunction, oxidative stress and neuroinflammation in neurodegeneration with brain iron accumulation (NBIA) I Hinarejos, C Machuca, P Sancho, C Espinós Antioxidants 9 (10), 1020, 2020 | 60 | 2020 |
| Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth T Sevilla, D Martínez‐Rubio, C Márquez, C Paradas, J Colomer, T Jaijo, ... Clinical genetics 83 (6), 565-570, 2013 | 58 | 2013 |
| Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease D Pla-Martín, E Calpena, V Lupo, C Márquez, E Rivas, R Sivera, T Sevilla, ... Human molecular genetics 24 (1), 213-229, 2015 | 55 | 2015 |
| The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4 R Claramunt, T Sevilla, V Lupo, A Cuesta, JM Millán, JJ Vílchez, F Palau, ... Clinical genetics 71 (4), 343-349, 2007 | 55 | 2007 |
| Epidemiology of Usher syndrome in Valencia and Spain C Espinos, JM Millan, M Beneyto, C Najera Community genetics 1 (4), 223-228, 1999 | 53 | 1999 |
| Distal hereditary motor neuropathies: mutation spectrum and genotype–phenotype correlation M Frasquet, R Rojas‐García, H Argente‐Escrig, JF Vázquez‐Costa, ... European journal of neurology 28 (4), 1334-1343, 2021 | 49 | 2021 |
| Oxidative stress, a crossroad between rare diseases and neurodegeneration C Espinós, MI Galindo, MA García-Gimeno, JS Ibáñez-Cabellos, ... Antioxidants 9 (4), 313, 2020 | 48 | 2020 |
| Significant linkage and non‐linkage of type 1 von Willebrand disease to the von Willebrand factor gene P Casaña, F Martínez, S Haya, C Espinós, JA Aznar British journal of haematology 115 (3), 692-700, 2001 | 48 | 2001 |
