| Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion C V., M Montermini L., P L., C m., C f., M E., F Rodius, D f., M A., Z F., C J., ... Science 271, 1423-1427, 1996 | 3246* | 1996 |
| Genome Sequence of the Nematode C. elegans: A Platform for Investigating Biology THECES CONSORTIUM* Science 282 (5396), 2012-2018, 1998 | 1909* | 1998 |
| Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study E Nelis, C Van Broeckhoven, P De Jonghe, A Löfgren, A Vandenberghe, ... European Journal of Human Genetics 4 (1), 25-33, 1996 | 517 | 1996 |
| The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease A Cuesta, L Pedrola, T Sevilla, J García-Planells, MJ Chumillas, ... Nature genetics 30 (1), 22-25, 2002 | 438 | 2002 |
| The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease M Olivares, A Neef, G Castillejo, G De Palma, V Varea, A Capilla, F Palau, ... Gut 64 (3), 406-417, 2015 | 328 | 2015 |
| Autosomal recessive cerebellar ataxias F Palau, C Espinós Orphanet journal of rare diseases 1, 1-19, 2006 | 244 | 2006 |
| GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria L Pedrola, A Espert, X Wu, R Claramunt, ME Shy, F Palau Human molecular genetics 14 (8), 1087-1094, 2005 | 232 | 2005 |
| Mutations in GDAP1 Autosomal recessive CMT with demyelination and axonopathy E Nelis, S Erdem, PYK Van den Bergh, MC Belpaire–Dethiou, ... Neurology 59 (12), 1865-1872, 2002 | 210 | 2002 |
| Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat E Monrós, MD Moltó, F Martínez, J Canizares, J Blanca, JJ Vílchez, ... The American Journal of Human Genetics 61 (1), 101-110, 1997 | 208 | 1997 |
| 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 |
| Frataxin interacts functionally with mitochondrial electron transport chain proteins P Gonzalez-Cabo, RP Vázquez-Manrique, MA García-Gimeno, P Sanz, ... Human molecular genetics 14 (15), 2091-2098, 2005 | 180 | 2005 |
| Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL study G De Palma, A Capilla, E Nova, G Castillejo, V Varea, T Pozo, JA Garrote, ... PloS one 7 (2), e30791, 2012 | 167 | 2012 |
| Origin of the de novo duplication in Charcot—Marie—Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis F Palau, A Löfgren, PD Jonghe, S Bort, E Nelis, T Sevilla, JJ Martin, ... Human molecular genetics 2 (12), 2031-2035, 1993 | 158 | 1993 |
| Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series R Sivera, T Sevilla, JJ Vílchez, D Martínez-Rubio, MJ Chumillas, ... Neurology 81 (18), 1617-1625, 2013 | 157 | 2013 |
| Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies S Bort, E Nelis, V Timmerman, T Sevilla, A Cruz-Martínez, F Martínez, ... Human genetics 99, 746-754, 1997 | 150 | 1997 |
| Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability F Zhang, P Seeman, P Liu, MAJ Weterman, C Gonzaga-Jauregui, ... The American Journal of Human Genetics 86 (6), 892-903, 2010 | 149 | 2010 |
| Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides species E Sánchez, G De Palma, A Capilla, E Nova, T Pozo, G Castillejo, V Varea, ... Applied and environmental microbiology 77 (15), 5316-5323, 2011 | 144 | 2011 |
| Clinical, electrophysiological and morphological findings of Charcot–Marie–Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene T Sevilla, A Cuesta, MJ Chumillas, F Mayordomo, L Pedrola, F Palau, ... Brain 126 (9), 2023-2033, 2003 | 144 | 2003 |
| Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes A Marco, A Cuesta, L Pedrola, F Palau, I Marín Molecular biology and evolution 21 (1), 176-187, 2004 | 129 | 2004 |
| Peroneal neuropathy after weight loss A Cruz‐Martinez, J Arpa, F Palau Journal of the Peripheral Nervous System 5 (2), 101-105, 2000 | 126 | 2000 |
Carmen EspinósCentro de Investigación Príncipe Felipe (CIPF), Valencia在 cipf.es 的电子邮件经过验证
