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Victoria Campuzano
Victoria Campuzano
Serra Hunter Tenure Track, Universidad de BArcelona
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Year
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
32161996
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
12261996
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
8851997
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
6552003
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
5781997
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
3771997
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
1471998
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
1222005
Frataxin fracas
M Cossée, V Campuzano, H Koutnikova, K Fischbeck, JL Mandel, ...
Nature genetics 15 (4), 337-338, 1997
1061997
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
1022008
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
842014
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
821992
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
722000
Direct molecular diagnosis of Friedreich ataxia
M Pandolfo, L Montermini, MD Molto, M Koenig, V Campuzano, M Cossee
US Patent 6,150,091, 2000
672000
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
611995
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
571996
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
562010
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
561995
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
542015
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
472015
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