Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996 | 3216 | 1996 |
Clinical and genetic abnormalities in patients with Friedreich's ataxia A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, JL Mandel, ... New England Journal of Medicine 335 (16), 1169-1175, 1996 | 1226 | 1996 |
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, ... Human molecular genetics 6 (11), 1771-1780, 1997 | 885 | 1997 |
Tumor induction by an endogenous K-ras oncogene is highly dependent on cellular context C Guerra, N Mijimolle, A Dhawahir, P Dubus, M Barradas, M Serrano, ... Cancer cell 4 (2), 111-120, 2003 | 655 | 2003 |
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin H Koutnikova, V Campuzano, F Foury, P Dollé, O Cazzalini, M Koenig Nature genetics 16 (4), 345-351, 1997 | 578 | 1997 |
Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: founder effect and premutations M Cossée, M Schmitt, V Campuzano, L Reutenauer, C Moutou, ... Proceedings of the National Academy of Sciences 94 (14), 7452-7457, 1997 | 377 | 1997 |
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase H Koutnikova, V Campuzano, M Koenig Human molecular genetics 7 (9), 1485-1489, 1998 | 147 | 1998 |
Protein farnesyltransferase in embryogenesis, adult homeostasis, and tumor development N Mijimolle, J Velasco, P Dubus, C Guerra, CA Weinbaum, PJ Casey, ... Cancer cell 7 (4), 313-324, 2005 | 122 | 2005 |
Frataxin fracas M Cossée, V Campuzano, H Koutnikova, K Fischbeck, JL Mandel, ... Nature genetics 15 (4), 337-338, 1997 | 106 | 1997 |
Copy number variation at the 7q11. 23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion I Cuscó, R Corominas, M Bayés, R Flores, N Rivera-Brugués, ... Genome research 18 (5), 683-694, 2008 | 102 | 2008 |
Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder M Segura-Puimedon, I Sahún, E Velot, P Dubus, C Borralleras, ... Human molecular genetics 23 (24), 6481-6494, 2014 | 84 | 2014 |
Cloning and sequence analysis of the Mucor circinelloides pyrG gene encoding orotidine-5′-monophosphate decar☐ ylase: use of pyrG for homologous transformation EP Benito, JM Díaz-Mínguez, EA Iturriaga, V Campuzano, AP Eslava Gene 116 (1), 59-67, 1992 | 82 | 1992 |
Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features ML McCormack, RP Guttmann, M Schumann, JM Farmer, CA Stolle, ... Journal of Neurology, Neurosurgery & Psychiatry 68 (5), 661-664, 2000 | 72 | 2000 |
Direct molecular diagnosis of Friedreich ataxia M Pandolfo, L Montermini, MD Molto, M Koenig, V Campuzano, M Cossee US Patent 6,150,091, 2000 | 67 | 2000 |
Isolation, characterization and transformation, by autonomous replication, ofMucor circinelloides OMPdecase-deficient mutants EP Benito, V Campuzano, MA Lôpez-Matas, JI De Vicente, AP Eslava Molecular and General Genetics MGG 248, 126-135, 1995 | 61 | 1995 |
Blue‐Light Receptor Requirement for Gravitropism, Autochemotropism and Ethylene Response in Phycomyces* V Campuzano, P Galland, MI Alvarez, AP Eslava Photochemistry and photobiology 63 (5), 686-694, 1996 | 57 | 1996 |
Essential role of the N-terminal region of TFII-I in viability and behavior J Lucena, S Pezzi, E Aso, MC Valero, C Carreiro, P Dubus, A Sampaio, ... BMC medical genetics 11, 1-10, 2010 | 56 | 2010 |
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 L Montermini, F Rodius, L Pianese, MD Moltò, M Cossée, V Campuzano, ... American journal of human genetics 57 (5), 1061, 1995 | 56 | 1995 |
Intracisternal Gtf2i gene therapy ameliorates deficits in cognition and synaptic plasticity of a mouse model of Williams–Beuren syndrome C Borralleras, I Sahun, LA Pérez-Jurado, V Campuzano Molecular Therapy 23 (11), 1691-1699, 2015 | 54 | 2015 |
Metabolic abnormalities in Williams–Beuren syndrome MG Palacios-Verdú, M Segura-Puimedon, C Borralleras, R Flores, ... Journal of medical genetics 52 (4), 248-255, 2015 | 47 | 2015 |